1 |
Molecular |
HLA B51 (HLA Analizi/ HLA Analysis) |
HLA-B51 |
Review |
2 |
Molecular |
JAK2 EKZON 14 |
JAK 2 |
Review |
3 |
Molecular |
Bilinen Mutasyon (2 bölge) |
|
Review |
4 |
Molecular |
Achalasia-addisonianism-alacrimia syndrome |
AAAS |
Review |
5 |
Molecular |
{Macular degeneration, age-related, 2} |
ABCA4 |
Review |
6 |
Molecular |
Fundus flavimaculatus |
ABCA4 |
Review |
7 |
Molecular |
Retinal dystrophy, early-onset severe |
ABCA4 |
Review |
8 |
Molecular |
Stargardt disease 1 |
ABCA4 |
Review |
9 |
Molecular |
Retinitis pigmentosa 19 |
ABCA4 |
Review |
10 |
Molecular |
Cone-rod dystrophy 3 |
ABCA4 |
Review |
11 |
Molecular |
Cholestasis, progressive familial intrahepatic 2 |
ABCB11 |
Review |
12 |
Molecular |
Cholestasis, benign recurrent intrahepatic, 2 |
ABCB11 |
Review |
13 |
Molecular |
Gallbladder disease 1 |
ABCB11 |
Review |
14 |
Molecular |
Cholestasis, progressive familial intrahepatic 3 |
ABCB4 |
Review |
15 |
Molecular |
Cholestasis, intrahepatic, of pregnancy, 3 |
ABCB4 |
Review |
16 |
Molecular |
Dubin-Johnson syndrome |
ABCC2 |
Review |
17 |
Molecular |
Dubin-Johnson syndrome |
ABCC2 |
Review |
18 |
Molecular |
Diabetes mellitus, noninsulin-dependent |
ABCC8 |
Review |
19 |
Molecular |
Hypoglycemia of infancy, leucine-sensitive |
ABCC8 |
Review |
20 |
Molecular |
Hyperinsulinemic hypoglycemia, familial, 1 |
ABCC8 |
Review |
21 |
Molecular |
Diabetes mellitus, permanent neonatal |
ABCC8 |
Review |
22 |
Molecular |
Diabetes mellitus, transient neonatal 2 |
ABCC8 |
Review |
23 |
Molecular |
Adrenoleukodystrophy |
ABCD1 |
Review |
24 |
Molecular |
Adrenomyeloneuropathy, adult |
ABCD1 |
Review |
25 |
Molecular |
Chanarin-Dorfman syndrome |
ABHD5 |
Review |
26 |
Molecular |
Acyl-CoA dehydrogenase, medium chain, deficiency of |
ACADM |
Review |
27 |
Molecular |
VLCAD deficiency |
ACADVL |
Review |
28 |
Molecular |
Alpha-methylacetoacetic aciduria |
ACAT1 |
Review |
29 |
Molecular |
Renal tubular dysgenesis |
ACE |
Review |
30 |
Molecular |
{Microvascular complications of diabetes 3} |
ACE |
Review |
31 |
Molecular |
{Stroke, hemorrhagic} |
ACE |
Review |
32 |
Molecular |
[Angiotensin I-converting enzyme, benign serum increase] |
ACE |
Review |
33 |
Molecular |
{Myocardial infarction, susceptibility to} |
ACE |
Review |
34 |
Molecular |
{SARS, progression of} |
ACE |
Review |
35 |
Molecular |
Developmental and epileptic encephalopathy 76 |
ACTL6B |
Review |
36 |
Molecular |
Intellectual developmental disorder with severe speech and ambulation defects |
ACTL6B |
Review |
37 |
Molecular |
Telangiectasia, hereditary hemorrhagic, type 2 |
ACVRL1 |
Review |
38 |
Molecular |
Sneddon syndrome |
ADA2 |
Review |
39 |
Molecular |
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome |
ADA2 |
Review |
40 |
Molecular |
Osteoartrit, romatoid artrit |
ADAMTS12 |
Review |
41 |
Molecular |
Thrombotic thrombocytopenic purpura, familial |
ADAMTS13 |
Review |
42 |
Molecular |
Alpha-fetoprotein deficiency |
AFP |
Review |
43 |
Molecular |
[Hereditary persistence of alpha-fetoprotein] |
AFP |
Review |
44 |
Molecular |
Glycogen storage disease IIIa |
AGL |
Review |
45 |
Molecular |
Glycogen storage disease IIIb |
AGL |
Review |
46 |
Molecular |
Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects |
AGRN |
Review |
47 |
Molecular |
Hyperoxaluria, primary, type 1 |
AGXT |
Review |
48 |
Molecular |
Pituitary adenoma 1, multiple types |
AIP |
Review |
49 |
Molecular |
Pituitary adenoma predisposition |
AIP |
Review |
50 |
Molecular |
Cone-rod dystrophy |
AIPL1 |
Review |
51 |
Molecular |
Leber congenital amaurosis 4 |
AIPL1 |
Review |
52 |
Molecular |
Retinitis pigmentosa, juvenile |
AIPL1 |
Review |
53 |
Molecular |
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia |
AIRE |
Review |
54 |
Molecular |
Breast cancer, somatic |
AKT1 |
Review |
55 |
Molecular |
Colorectal cancer, somatic |
AKT1 |
Review |
56 |
Molecular |
Ovarian cancer, somatic |
AKT1 |
Review |
57 |
Molecular |
Proteus syndrome, somatic |
AKT1 |
Review |
58 |
Molecular |
{Schizophrenia, susceptibility to} |
AKT1 |
Review |
59 |
Molecular |
Cowden syndrome 6 |
AKT1 |
Review |
60 |
Molecular |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
AKT3 |
Review |
61 |
Molecular |
Anemia, sideroblastic, 1 |
ALAS2 |
Review |
62 |
Molecular |
Protoporphyria, erythropoietic, X-linked |
ALAS2 |
Review |
63 |
Molecular |
Sjogren-Larsson syndrome |
ALDH3A2 |
Review |
64 |
Molecular |
Hyperprolinemia, type II |
ALDH4A1 |
Review |
65 |
Molecular |
Epilepsy, pyridoxine-dependent |
ALDH7A1 |
Review |
66 |
Molecular |
Fructose intolerance, hereditary |
ALDOB |
Review |
67 |
Molecular |
{Neuroblastoma, susceptibility to, 3} |
ALK |
Review |
68 |
Molecular |
Alstrom syndrome |
ALMS1 |
Review |
69 |
Molecular |
Hypophosphatasia, adult |
ALPL |
Review |
70 |
Molecular |
Odontohypophosphatasia |
ALPL |
Review |
71 |
Molecular |
Hypophosphatasia, infantile |
ALPL |
Review |
72 |
Molecular |
Hypophosphatasia, childhood |
ALPL |
Review |
73 |
Molecular |
Parietal foramina 2 |
ALX4 |
Review |
74 |
Molecular |
Frontonasal dysplasia 2 |
ALX4 |
Review |
75 |
Molecular |
{Craniosynostosis 5, susceptibility to} |
ALX4 |
Review |
76 |
Molecular |
Osteopathia striata with cranial sclerosis |
AMER1 |
Review |
77 |
Molecular |
Persistent Mullerian duct syndrome, type I |
AMH |
Review |
78 |
Molecular |
Imerslund-Grasbeck syndrome 2 |
AMN |
Review |
79 |
Molecular |
Glycine encephalopathy |
AMT |
Review |
80 |
Molecular |
Glycine encephalopathy |
AMT |
Review |
81 |
Molecular |
?Angioedema, hereditary, 5 |
ANGPT1 |
Review |
82 |
Molecular |
GAPO syndrome |
ANTXR1 |
Review |
83 |
Molecular |
{?Hemangioma, capillary infantile, susceptibility to} |
ANTXR1 |
Review |
84 |
Molecular |
Hypocalciuric hypercalcemia, type III |
AP2S1 |
Review |
85 |
Molecular |
Hyperchylomicronemia, late-onset |
APOA5 |
Review |
86 |
Molecular |
{Hypertriglyceridemia, susceptibility to} |
APOA5 |
Review |
87 |
Molecular |
Hypercholesterolemia, familial, 2 |
APOB |
Review |
88 |
Molecular |
Hypobetalipoproteinemia |
APOB |
Review |
89 |
Molecular |
Hyperlipoproteinemia, type Ib |
APOC2 |
Review |
90 |
Molecular |
Alzheimer disease-2 |
APOE |
Review |
91 |
Molecular |
Sea-blue histiocyte disease |
APOE |
Review |
92 |
Molecular |
{?Macular degeneration, age-related} |
APOE |
Review |
93 |
Molecular |
Lipoprotein glomerulopathy |
APOE |
Review |
94 |
Molecular |
{Coronary artery disease, severe, susceptibility to} |
APOE |
Review |
95 |
Molecular |
Hyperlipoproteinemia, type III |
APOE |
Review |
96 |
Molecular |
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
APTX |
Review |
97 |
Molecular |
Diabetes insipidus, nephrogenic, 2 |
AQP2 |
Review |
98 |
Molecular |
{Prostate cancer, susceptibility to} |
AR |
Review |
99 |
Molecular |
Androgen insensitivity |
AR |
Review |
100 |
Molecular |
Hypospadias 1, X-linked |
AR |
Review |
101 |
Molecular |
Androgen insensitivity, partial, with or without breast cancer |
AR |
Review |
102 |
Molecular |
Spinal and bulbar muscular atrophy of Kennedy |
AR |
Review |
103 |
Molecular |
Argininemia |
ARG1 |
Review |
104 |
Molecular |
Adams-Oliver syndrome 1 |
ARHGAP31 |
Review |
105 |
Molecular |
Nephrotic syndrome, type 8 |
ARHGDIA |
Review |
106 |
Molecular |
Coffin-Siris syndrome 1 |
ARID1B |
Review |
107 |
Molecular |
ACTH-independent macronodular adrenal hyperplasia 2 |
ARMC5 |
Review |
108 |
Molecular |
Proud syndrome |
ARX |
Review |
109 |
Molecular |
Hydranencephaly with abnormal genitalia |
ARX |
Review |
110 |
Molecular |
Lissencephaly, X-linked 2 |
ARX |
Review |
111 |
Molecular |
Mental retardation, X-linked 29 and others |
ARX |
Review |
112 |
Molecular |
Epileptic encephalopathy, early infantile, 1 |
ARX |
Review |
113 |
Molecular |
Partington syndrome |
ARX |
Review |
114 |
Molecular |
Spinal muscular atrophy with progressive myoclonic epilepsy |
ASAH1 |
Review |
115 |
Molecular |
Farber lipogranulomatosis |
ASAH1 |
Review |
116 |
Molecular |
Canavan disease |
ASPA |
Review |
117 |
Molecular |
Microcephaly 5, primary, autosomal recessive |
ASPM |
Review |
118 |
Molecular |
Citrullinemia |
ASS1 |
Review |
119 |
Molecular |
Bohring-Opitz syndrome |
ASXL1 |
Review |
120 |
Molecular |
Myelodysplastic syndrome, somatic |
ASXL1 |
Review |
121 |
Molecular |
Neuropathy, hereditary sensory, type IF |
ATL3 |
Review |
122 |
Molecular |
Kufor-Rakeb syndrome |
ATP13A2 |
Review |
123 |
Molecular |
Spastic paraplegia 78, autosomal recessive |
ATP13A2 |
Review |
124 |
Molecular |
Alternating hemiplegia of childhood 1 |
ATP1A2 |
Review |
125 |
Molecular |
Migraine, familial basilar |
ATP1A2 |
Review |
126 |
Molecular |
Migraine, familial hemiplegic, 2 |
ATP1A2 |
Review |
127 |
Molecular |
Renal tubular acidosis with deafness |
ATP6V1B1 |
Review |
128 |
Molecular |
Spinal muscular atrophy, distal, X-linked 3 |
ATP7A |
Review |
129 |
Molecular |
Occipital horn syndrome |
ATP7A |
Review |
130 |
Molecular |
Menkes disease |
ATP7A |
Review |
131 |
Molecular |
Cholestasis, intrahepatic, of pregnancy, 1 |
ATP8B1 |
Review |
132 |
Molecular |
Cholestasis, progressive familial intrahepatic 1 |
ATP8B1 |
Review |
133 |
Molecular |
Cholestasis, benign recurrent intrahepatic |
ATP8B1 |
Review |
134 |
Molecular |
Seckel syndrome 1 |
ATR |
Review |
135 |
Molecular |
?Cutaneous telangiectasia and cancer syndrome, familial |
ATR |
Review |
136 |
Molecular |
Alpha-thalassemia myelodysplasia syndrome, somatic |
ATRX |
Review |
137 |
Molecular |
Alpha-thalassemia/mental retardation syndrome |
ATRX |
Review |
138 |
Molecular |
Mental retardation-hypotonic facies syndrome, X-linked |
ATRX |
Review |
139 |
Molecular |
Spinocerebellar ataxia 1 |
ATXN1 |
Review |
140 |
Molecular |
{Parkinson disease, late-onset, susceptibility to} |
ATXN2 |
Review |
141 |
Molecular |
{Amyotrophic lateral sclerosis, susceptibility to, 13} |
ATXN2 |
Review |
142 |
Molecular |
Spinocerebellar ataxia 2 |
ATXN2 |
Review |
143 |
Molecular |
Machado-Joseph disease |
ATXN3 |
Review |
144 |
Molecular |
3-Methylglutaconic Aciduria, Type Viii, Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B |
AUP1 |
Review |
145 |
Molecular |
Nephrogenic syndrome of inappropriate antidiuresis |
AVPR2 |
Review |
146 |
Molecular |
Diabetes insipidus, nephrogenic |
AVPR2 |
Review |
147 |
Molecular |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 |
B3GALNT2 |
Review |
148 |
Molecular |
Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects |
B3GAT3 |
Review |
149 |
Molecular |
Tumor predisposition syndrome |
BAP1 |
Review |
150 |
Molecular |
Bardet-Biedl syndrome 10 |
BBS10 |
Review |
151 |
Molecular |
Maple syrup urine disease, type Ia |
BCKDHA |
Review |
152 |
Molecular |
Maple syrup urine disease, type Ib |
BCKDHB |
Review |
153 |
Molecular |
Branched-chain ketoacid dehydrogenase kinase deficiency |
BCKDK |
Review |
154 |
Molecular |
Maturity-onset diabetes of the young, type 11 |
BLK |
Review |
155 |
Molecular |
Bloom syndrome |
BLM |
Review |
156 |
Molecular |
Pulmonary hypertension, familial primary, 1, with or without HHT |
BMPR2 |
Review |
157 |
Molecular |
Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated |
BMPR2 |
Review |
158 |
Molecular |
Pulmonary venoocclusive disease 1 |
BMPR2 |
Review |
159 |
Molecular |
Cardiofaciocutaneous syndrome |
BRAF |
Review |
160 |
Molecular |
Adenocarcinoma of lung, somatic |
BRAF |
Review |
161 |
Molecular |
Noonan syndrome 7 |
BRAF |
Review |
162 |
Molecular |
LEOPARD syndrome 3 |
BRAF |
Review |
163 |
Molecular |
Colorectal cancer, somatic |
BRAF |
Review |
164 |
Molecular |
Melanoma, malignant, somatic |
BRAF |
Review |
165 |
Molecular |
Nonsmall cell lung cancer, somatic |
BRAF |
Review |
166 |
Molecular |
Bartter syndrome, type 4a |
BSND |
Review |
167 |
Molecular |
Sensorineural deafness with mild renal dysfunction |
BSND |
Review |
168 |
Molecular |
Agammaglobulinemia, X-linked 1 |
BTK |
Review |
169 |
Molecular |
Isolated growth hormone deficiency, type III, with agammaglobulinemia |
BTK |
Review |
170 |
Molecular |
Ehlers-Danlos syndrome, periodontal type, 1 |
C1R |
Review |
171 |
Molecular |
[Blood group, Rodgers] |
C4A |
Review |
172 |
Molecular |
C4a deficiency |
C4A |
Review |
173 |
Molecular |
C5 deficiency |
C5 |
Review |
174 |
Molecular |
[Eculizumab, poor response to] |
C5 |
Review |
175 |
Molecular |
Frontotemporal dementia and+or amyotrophic lateral sclerosis 1 |
C9ORF72 |
Review |
176 |
Molecular |
Episodic ataxia, type 2 |
CACNA1A |
Review |
177 |
Molecular |
Migraine, familial hemiplegic, 1 |
CACNA1A |
Review |
178 |
Molecular |
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia |
CACNA1A |
Review |
179 |
Molecular |
Spinocerebellar ataxia 6 |
CACNA1A |
Review |
180 |
Molecular |
Epileptic encephalopathy, early infantile, 42 |
CACNA1A |
Review |
181 |
Molecular |
Hypokalemic periodic paralysis, type 1 |
CACNA1S |
Review |
182 |
Molecular |
{Thyrotoxic periodic paralysis, susceptibility to, 1} |
CACNA1S |
Review |
183 |
Molecular |
{Malignant hyperthermia susceptibility 5} |
CACNA1S |
Review |
184 |
Molecular |
Autoimmune lymphoproliferative syndrome, type II |
CASP10 |
Review |
185 |
Molecular |
Lymphoma, non-Hodgkin, somatic |
CASP10 |
Review |
186 |
Molecular |
Gastric cancer, somatic |
CASP10 |
Review |
187 |
Molecular |
Hypocalciuric hypercalcemia, type I |
CASR |
Review |
188 |
Molecular |
Hyperparathyroidism, neonatal |
CASR |
Review |
189 |
Molecular |
Hypocalcemia, autosomal dominant |
CASR |
Review |
190 |
Molecular |
Hypocalcemia, autosomal dominant, with Bartter syndrome |
CASR |
Review |
191 |
Molecular |
{Epilepsy idiopathic generalized, susceptibility to, 8} |
CASR |
Review |
192 |
Molecular |
Spermatogenic failure 7 |
CATSPER1 |
Review |
193 |
Molecular |
Homocystinuria, B6-responsive and nonresponsive types |
CBS |
Review |
194 |
Molecular |
Thrombosis, hyperhomocysteinemic |
CBS |
Review |
195 |
Molecular |
3-M syndrome 3 |
CCDC8 |
Review |
196 |
Molecular |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 |
CCND2 |
Review |
197 |
Molecular |
Lymphoproliferative syndrome 2 |
CD27 |
Review |
198 |
Molecular |
Immunodeficiency, X-linked, with hyper-IgM |
CD40LG |
Review |
199 |
Molecular |
{Hemolytic uremic syndrome, atypical, susceptibility to, 2} |
CD46 |
Review |
200 |
Molecular |
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy |
CD55 |
Review |
201 |
Molecular |
[Blood group Cromer] |
CD55 |
Review |
202 |
Molecular |
Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy |
CD59 |
Review |
203 |
Molecular |
C syndrome |
CD96 |
Review |
204 |
Molecular |
Dyserythropoietic anemia, congenital, type Ia |
CDAN1 |
Review |
205 |
Molecular |
Hyperparathyroidism, familial primary |
CDC73 |
Review |
206 |
Molecular |
Hyperparathyroidism-jaw tumor syndrome |
CDC73 |
Review |
207 |
Molecular |
Parathyroid adenoma with cystic changes |
CDC73 |
Review |
208 |
Molecular |
Parathyroid carcinoma |
CDC73 |
Review |
209 |
Molecular |
{Breast cancer, lobular} |
CDH1 |
Review |
210 |
Molecular |
Blepharocheilodontic syndrome 1 |
CDH1 |
Review |
211 |
Molecular |
Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate |
CDH1 |
Review |
212 |
Molecular |
Ovarian cancer, somatic |
CDH1 |
Review |
213 |
Molecular |
{Prostate cancer, susceptibility to} |
CDH1 |
Review |
214 |
Molecular |
Endometrial carcinoma, somatic |
CDH1 |
Review |
215 |
Molecular |
Ectodermal dysplasia, ectrodactyly, and macular dystrophy |
CDH3 |
Review |
216 |
Molecular |
Hypotrichosis, congenital, with juvenile macular dystrophy |
CDH3 |
Review |
217 |
Molecular |
Epileptic encephalopathy, early infantile, 2 |
CDKL5 |
Review |
218 |
Molecular |
Beckwith-Wiedemann syndrome |
CDKN1C |
Review |
219 |
Molecular |
IMAGE syndrome |
CDKN1C |
Review |
220 |
Molecular |
{Melanoma, cutaneous malignant, 2} |
CDKN2A |
Review |
221 |
Molecular |
{Melanoma and neural system tumor syndrome} |
CDKN2A |
Review |
222 |
Molecular |
{Melanoma-pancreatic cancer syndrome} |
CDKN2A |
Review |
223 |
Molecular |
?Leukemia, acute myeloid |
CEBPA |
Review |
224 |
Molecular |
Leukemia, acute myeloid, somatic |
CEBPA |
Review |
225 |
Molecular |
Maturity-onset diabetes of the young, type VIII |
CEL |
Review |
226 |
Molecular |
CHARGE syndrome |
CHD7 |
Review |
227 |
Molecular |
Hypogonadotropic hypogonadism 5 with or without anosmia |
CHD7 |
Review |
228 |
Molecular |
{Autism, susceptibility to, 18} |
CHD8 |
Review |
229 |
Molecular |
{Schizophrenia, susceptibility to} |
CHI3L1 |
Review |
230 |
Molecular |
{Asthma-related traits, susceptibility to, 7} |
CHI3L1 |
Review |
231 |
Molecular |
?Prune belly syndrome |
CHRM3 |
Review |
232 |
Molecular |
Myasthenic syndrome, congenital, 4A, slow-channel |
CHRNE |
Review |
233 |
Molecular |
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency |
CHRNE |
Review |
234 |
Molecular |
Myasthenic syndrome, congenital, 4B, fast-channel |
CHRNE |
Review |
235 |
Molecular |
Escobar syndrome |
CHRNG |
Review |
236 |
Molecular |
Multiple pterygium syndrome, lethal type |
CHRNG |
Review |
237 |
Molecular |
Spondyloepiphyseal dysplasia with congenital joint dislocations |
CHST3 |
Review |
238 |
Molecular |
Filippi syndrome |
CKAP2L |
Review |
239 |
Molecular |
Dent disease |
CLCN5 |
Review |
240 |
Molecular |
Hypophosphatemic rickets |
CLCN5 |
Review |
241 |
Molecular |
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis |
CLCN5 |
Review |
242 |
Molecular |
Nephrolithiasis, type I |
CLCN5 |
Review |
243 |
Molecular |
Osteopetrosis, autosomal dominant 2 |
CLCN7 |
Review |
244 |
Molecular |
Osteopetrosis, autosomal recessive 4 |
CLCN7 |
Review |
245 |
Molecular |
Bartter syndrome, type 4b, digenic |
CLCNKA |
Review |
246 |
Molecular |
Bartter syndrome, type 3 |
CLCNKB |
Review |
247 |
Molecular |
Bartter syndrome, type 4b, digenic |
CLCNKB |
Review |
248 |
Molecular |
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis |
CLDN1 |
Review |
249 |
Molecular |
Hypomagnesemia 3, renal |
CLDN16 |
Review |
250 |
Molecular |
Ceroid lipofuscinosis, neuronal, 3 |
CLN3 |
Review |
251 |
Molecular |
Ceroid lipofuscinosis, neuronal, 8 |
CLN8 |
Review |
252 |
Molecular |
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant |
CLN8 |
Review |
253 |
Molecular |
Usher syndrome, type 3A |
CLRN1 |
Review |
254 |
Molecular |
Retinitis pigmentosa 61 |
CLRN1 |
Review |
255 |
Molecular |
Achromatopsia 3 |
CNGB3 |
Review |
256 |
Molecular |
Stickler syndrome, type I |
COL2A1 |
Review |
257 |
Molecular |
Epiphyseal dysplasia, multiple, with myopia and deafness |
COL2A1 |
Review |
258 |
Molecular |
Legg-Calve-Perthes disease |
COL2A1 |
Review |
259 |
Molecular |
Platyspondylic skeletal dysplasia, Torrance type |
COL2A1 |
Review |
260 |
Molecular |
Kniest dysplasia |
COL2A1 |
Review |
261 |
Molecular |
SED congenita |
COL2A1 |
Review |
262 |
Molecular |
SMED Strudwick type |
COL2A1 |
Review |
263 |
Molecular |
Achondrogenesis, type II or hypochondrogenesis |
COL2A1 |
Review |
264 |
Molecular |
Spondyloperipheral dysplasia |
COL2A1 |
Review |
265 |
Molecular |
Osteoarthritis with mild chondrodysplasia |
COL2A1 |
Review |
266 |
Molecular |
Avascular necrosis of the femoral head |
COL2A1 |
Review |
267 |
Molecular |
Czech dysplasia |
COL2A1 |
Review |
268 |
Molecular |
Stickler sydrome, type I, nonsyndromic ocular |
COL2A1 |
Review |
269 |
Molecular |
Spondyloepiphyseal dysplasia, Stanescu type |
COL2A1 |
Review |
270 |
Molecular |
Vitreoretinopathy with phalangeal epiphyseal dysplasia |
COL2A1 |
Review |
271 |
Molecular |
Ehlers-Danlos syndrome, vascular type |
COL3A1 |
Review |
272 |
Molecular |
Polymicrogyria with or without vascular-type EDS |
COL3A1 |
Review |
273 |
Molecular |
Ehlers-Danlos syndrome, classic type, 1 |
COL5A1 |
Review |
274 |
Molecular |
Ehlers-Danlos syndrome, classic type, 2 |
COL5A2 |
Review |
275 |
Molecular |
Bethlem myopathy 1 |
COL6A1 |
Review |
276 |
Molecular |
Ullrich congenital muscular dystrophy 1 |
COL6A1 |
Review |
277 |
Molecular |
Bethlem myopathy 1 |
COL6A2 |
Review |
278 |
Molecular |
Ullrich congenital muscular dystrophy 1 |
COL6A2 |
Review |
279 |
Molecular |
?Myosclerosis, congenital |
COL6A2 |
Review |
280 |
Molecular |
Bethlem myopathy 1 |
COL6A3 |
Review |
281 |
Molecular |
Ullrich congenital muscular dystrophy 1 |
COL6A3 |
Review |
282 |
Molecular |
Dystonia 27 |
COL6A3 |
Review |
283 |
Molecular |
Stickler syndrome, type IV |
COL9A1 |
Review |
284 |
Molecular |
?Epiphyseal dysplasia, multiple, 6 |
COL9A1 |
Review |
285 |
Molecular |
Myasthenic syndrome, congenital, 5 |
COLQ |
Review |
286 |
Molecular |
Epiphyseal dysplasia, multiple, 1 |
COMP |
Review |
287 |
Molecular |
Pseudoachondroplasia |
COMP |
Review |
288 |
Molecular |
Carpal tunnel syndrome 2 |
COMP |
Review |
289 |
Molecular |
{Multiple system atrophy, susceptibility to} |
COQ2 |
Review |
290 |
Molecular |
Coenzyme Q10 deficiency, primary, 1 |
COQ2 |
Review |
291 |
Molecular |
Coenzyme Q10 deficiency, primary, 6 |
COQ6 |
Review |
292 |
Molecular |
Carbamoylphosphate synthetase I deficiency |
CPS1 |
Review |
293 |
Molecular |
{Pulmonary hypertension, neonatal, susceptibility to} |
CPS1 |
Review |
294 |
Molecular |
CPT II deficiency, myopathic, stress-induced |
CPT2 |
Review |
295 |
Molecular |
CPT II deficiency, infantile |
CPT2 |
Review |
296 |
Molecular |
CPT II deficiency, lethal neonatal |
CPT2 |
Review |
297 |
Molecular |
{Encephalopathy, acute, infection-induced, 4, susceptibility to} |
CPT2 |
Review |
298 |
Molecular |
Rubinstein-Taybi syndrome 1 |
CREBBP |
Review |
299 |
Molecular |
Menke-Hennekam syndrome 1 |
CREBBP |
Review |
300 |
Molecular |
Short stature with microcephaly and distinctive facies |
CRIPT |
Review |
301 |
Molecular |
Cold-induced sweating syndrome 1 |
CRLF1 |
Review |
302 |
Molecular |
Osteogenesis imperfecta, type VII |
CRTAP |
Review |
303 |
Molecular |
Cone-rod retinal dystrophy-2 |
CRX |
Review |
304 |
Molecular |
Leber congenital amaurosis 7 |
CRX |
Review |
305 |
Molecular |
Neutropenia, severe congenital, 7, autosomal recessive |
CSF3R |
Review |
306 |
Molecular |
Colorectal cancer, somatic |
CTNNB1 |
Review |
307 |
Molecular |
Hepatocellular carcinoma, somatic |
CTNNB1 |
Review |
308 |
Molecular |
Pilomatricoma, somatic |
CTNNB1 |
Review |
309 |
Molecular |
Medulloblastoma, somatic |
CTNNB1 |
Review |
310 |
Molecular |
Ovarian cancer, somatic |
CTNNB1 |
Review |
311 |
Molecular |
Neurodevelopmental disorder with spastic diplegia and visual defects |
CTNNB1 |
Review |
312 |
Molecular |
Exudative vitreoretinopathy 7 |
CTNNB1 |
Review |
313 |
Molecular |
Cystinosis, ocular nonnephropathic |
CTNS |
Review |
314 |
Molecular |
Cystinosis, atypical nephropathic |
CTNS |
Review |
315 |
Molecular |
Cystinosis, nephropathic |
CTNS |
Review |
316 |
Molecular |
Cystinosis, late-onset juvenile or adolescent nephropathic |
CTNS |
Review |
317 |
Molecular |
{Pancreatitis, chronic, susceptibility to} |
CTRC |
Review |
318 |
Molecular |
Periodontitis 1, juvenile |
CTSC |
Review |
319 |
Molecular |
Papillon-Lefevre syndrome |
CTSC |
Review |
320 |
Molecular |
Haim-Munk syndrome |
CTSC |
Review |
321 |
Molecular |
Pycnodysostosis |
CTSK |
Review |
322 |
Molecular |
3-M syndrome 1 |
CUL7 |
Review |
323 |
Molecular |
Methemoglobinemia, type I |
CYB5R3 |
Review |
324 |
Molecular |
Methemoglobinemia, type II |
CYB5R3 |
Review |
325 |
Molecular |
Thrombocytopenia 4 |
CYCS |
Review |
326 |
Molecular |
Aldosteronism, glucocorticoid-remediable |
CYP11B1 |
Review |
327 |
Molecular |
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency |
CYP11B1 |
Review |
328 |
Molecular |
Hypoaldosteronism, congenital, due to CMO I deficiency |
CYP11B2 |
Review |
329 |
Molecular |
Hypoaldosteronism, congenital, due to CMO II deficiency |
CYP11B2 |
Review |
330 |
Molecular |
{Low renin hypertension, susceptibility to} |
CYP11B2 |
Review |
331 |
Molecular |
Aldosterone to renin ratio raised |
CYP11B2 |
Review |
332 |
Molecular |
17,20-lyase deficiency, isolated |
CYP17A1 |
Review |
333 |
Molecular |
17-alpha-hydroxylase+17,20-lyase deficiency |
CYP17A1 |
Review |
334 |
Molecular |
Aromatase excess syndrome |
CYP19A1 |
Review |
335 |
Molecular |
Aromatase deficiency |
CYP19A1 |
Review |
336 |
Molecular |
Hypercalcemia, infantile, 1 |
CYP24A1 |
Review |
337 |
Molecular |
Cerebrotendinous xanthomatosis |
CYP27A1 |
Review |
338 |
Molecular |
Vitamin D-dependent rickets, type I |
CYP27B1 |
Review |
339 |
Molecular |
Clopidogrel, impaired responsiveness to |
CYP2C19 |
Review |
340 |
Molecular |
Mephenytoin poor metabolizer |
CYP2C19 |
Review |
341 |
Molecular |
Omeprazole poor metabolizer |
CYP2C19 |
Review |
342 |
Molecular |
Proguanil poor metabolizer |
CYP2C19 |
Review |
343 |
Molecular |
Warfarin sensitivity |
CYP2C9 |
Review |
344 |
Molecular |
Tolbutamide poor metabolizer |
CYP2C9 |
Review |
345 |
Molecular |
Rickets due to defect in vitamin D 25-hydroxylation |
CYP2R1 |
Review |
346 |
Molecular |
|
CYP3A4 |
Review |
347 |
Molecular |
Maple syrup urine disease, type II |
DBT |
Review |
348 |
Molecular |
Severe combined immunodeficiency, Athabascan type |
DCLRE1C |
Review |
349 |
Molecular |
Omenn syndrome |
DCLRE1C |
Review |
350 |
Molecular |
{Hemolytic uremic syndrome, atypical, susceptibility to, 7} |
DGKE |
Review |
351 |
Molecular |
Nephrotic syndrome, type 7 |
DGKE |
Review |
352 |
Molecular |
Smith-Lemli-Opitz syndrome |
DHCR7 |
Review |
353 |
Molecular |
Dyskeratosis congenita, X-linked |
DKC1 |
Review |
354 |
Molecular |
Hypophosphatemic rickets, AR |
DMP1 |
Review |
355 |
Molecular |
Ciliary dyskinesia, primary, 3, with or without situs inversus |
DNAH5 |
Review |
356 |
Molecular |
Ciliary dyskinesia, primary, 1, with or without situs inversus |
DNAI1 |
Review |
357 |
Molecular |
Hyper-IgE recurrent infection syndrome, autosomal recessive |
DOCK8 |
Review |
358 |
Molecular |
Myasthenic syndrome, congenital, 10 |
DOK7 |
Review |
359 |
Molecular |
Fetal akinesia deformation sequence 3 |
DOK7 |
Review |
360 |
Molecular |
Microcephaly, short stature, and limb abnormalities |
DONSON |
Review |
361 |
Molecular |
Microcephaly-micromelia syndrome |
DONSON |
Review |
362 |
Molecular |
Dyggve-Melchior-Clausen disease |
DYM |
Review |
363 |
Molecular |
Smith-McCort dysplasia |
DYM |
Review |
364 |
Molecular |
Urbach-Wiethe disease |
ECM1 |
Review |
365 |
Molecular |
Ectodermal dysplasia 1, hypohidrotic, X-linked |
EDA |
Review |
366 |
Molecular |
Tooth agenesis, selective, X-linked 1 |
EDA |
Review |
367 |
Molecular |
Ectodermal dysplasia 10A, hypohidrotic+hair+nail type, autosomal dominant |
EDAR |
Review |
368 |
Molecular |
Ectodermal dysplasia 10B, hypohidrotic+hair+tooth type, autosomal recessive |
EDAR |
Review |
369 |
Molecular |
[Hair morphology 1, hair thickness] |
EDAR |
Review |
370 |
Molecular |
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant |
EDARADD |
Review |
371 |
Molecular |
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
EDARADD |
Review |
372 |
Molecular |
{Myoclonic epilepsy, juvenile, susceptibility to, 1} |
EFHC1 |
Review |
373 |
Molecular |
{Epilepsy, juvenile absence, susceptibility to, 1} |
EFHC1 |
Review |
374 |
Molecular |
Neutropenia, cyclic |
ELANE |
Review |
375 |
Molecular |
Neutropenia, severe congenital 1, autosomal dominant |
ELANE |
Review |
376 |
Molecular |
Emery-Dreifuss muscular dystrophy 1, X-linked |
EMD |
Review |
377 |
Molecular |
Autism 10 and Autism |
EN2 |
Review |
378 |
Molecular |
Telangiectasia, hereditary hemorrhagic, type 1 |
ENG |
Review |
379 |
Molecular |
{Diabetes mellitus, non-insulin-dependent, susceptibility to} |
ENPP1 |
Review |
380 |
Molecular |
Arterial calcification, generalized, of infancy, 1 |
ENPP1 |
Review |
381 |
Molecular |
{Obesity, susceptibility to} |
ENPP1 |
Review |
382 |
Molecular |
Hypophosphatemic rickets, autosomal recessive, 2 |
ENPP1 |
Review |
383 |
Molecular |
Cole disease |
ENPP1 |
Review |
384 |
Molecular |
Adams-Oliver syndrome 4 |
EOGT |
Review |
385 |
Molecular |
Diarrhea 5, with tufting enteropathy, congenital |
EPCAM |
Review |
386 |
Molecular |
Colorectal cancer, hereditary nonpolyposis, type 8 |
EPCAM |
Review |
387 |
Molecular |
Epilepsy, progressive myoclonic 2A (Lafora) |
EPM2A |
Review |
388 |
Molecular |
Cockayne syndrome, type B |
ERCC6 |
Review |
389 |
Molecular |
{Lung cancer, susceptibility to} |
ERCC6 |
Review |
390 |
Molecular |
Cerebrooculofacioskeletal syndrome 1 |
ERCC6 |
Review |
391 |
Molecular |
De Sanctis-Cacchione syndrome |
ERCC6 |
Review |
392 |
Molecular |
UV-sensitive syndrome 1 |
ERCC6 |
Review |
393 |
Molecular |
{Macular degeneration, age-related, susceptibility to, 5} |
ERCC6 |
Review |
394 |
Molecular |
Premature ovarian failure 11 |
ERCC6 |
Review |
395 |
Molecular |
Cockayne syndrome, type A |
ERCC8 |
Review |
396 |
Molecular |
UV-sensitive syndrome 2 |
ERCC8 |
Review |
397 |
Molecular |
Craniosynostosis 4 |
ERF |
Review |
398 |
Molecular |
Chitayat syndrome |
ERF |
Review |
399 |
Molecular |
?Arthrogryposis multiplex congenita, neurogenic type |
ERGIC1 |
Review |
400 |
Molecular |
Roberts syndrome |
ESCO2 |
Review |
401 |
Molecular |
SC phocomelia syndrome |
ESCO2 |
Review |
402 |
Molecular |
Glutaric acidemia IIA |
ETFA |
Review |
403 |
Molecular |
Glutaric acidemia IIB |
ETFB |
Review |
404 |
Molecular |
Glutaric acidemia IIC |
ETFDH |
Review |
405 |
Molecular |
?Weyers acrofacial dysostosis |
EVC |
Review |
406 |
Molecular |
Ellis-van Creveld syndrome |
EVC |
Review |
407 |
Molecular |
Weyers acrofacial dysostosis |
EVC2 |
Review |
408 |
Molecular |
Ellis-van Creveld syndrome |
EVC2 |
Review |
409 |
Molecular |
Exostoses, multiple, type 1 |
EXT1 |
Review |
410 |
Molecular |
Chondrosarcoma |
EXT1 |
Review |
411 |
Molecular |
Branchiootorenal syndrome 1, with or without cataracts |
EYA1 |
Review |
412 |
Molecular |
?Otofaciocervical syndrome |
EYA1 |
Review |
413 |
Molecular |
Anterior segment anomalies with or without cataract |
EYA1 |
Review |
414 |
Molecular |
Branchiootic syndrome 1 |
EYA1 |
Review |
415 |
Molecular |
Factor XII deficiency |
F12 |
Review |
416 |
Molecular |
Angioedema, hereditary, 3 |
F12 |
Review |
417 |
Molecular |
Factor VII deficiency |
F7 |
Review |
418 |
Molecular |
{Myocardial infarction, decreased susceptibility to} |
F7 |
Review |
419 |
Molecular |
Tyrosinemia, type I |
FAH |
Review |
420 |
Molecular |
Kenny-Caffey syndrome, type 2 |
FAM111A |
Review |
421 |
Molecular |
Gracile bone dysplasia |
FAM111A |
Review |
422 |
Molecular |
Fanconi anemia, complementation group A |
FANCA |
Review |
423 |
Molecular |
Fanconi anemia, complementation group C |
FANCC |
Review |
424 |
Molecular |
Fanconi anemia, complementation group G |
FANCG |
Review |
425 |
Molecular |
{Autoimmune lymphoproliferative syndrome} |
FAS |
Review |
426 |
Molecular |
Autoimmune lymphoproliferative syndrome, type IA |
FAS |
Review |
427 |
Molecular |
Squamous cell carcinoma, burn scar-related, somatic |
FAS |
Review |
428 |
Molecular |
{Lung cancer, susceptibility to} |
FASLG |
Review |
429 |
Molecular |
Autoimmune lymphoproliferative syndrome, type IB |
FASLG |
Review |
430 |
Molecular |
Fructose-1,6-bisphosphatase deficiency |
FBP1 |
Review |
431 |
Molecular |
Thrombocytopenic purpura, autoimmune |
FCGR2C |
Review |
432 |
Molecular |
Leukocyte adhesion deficiency, type III |
FERMT3 |
Review |
433 |
Molecular |
Amyloidosis, familial visceral |
FGA |
Review |
434 |
Molecular |
Afibrinogenemia, congenital |
FGA |
Review |
435 |
Molecular |
Dysfibrinogenemia, congenital |
FGA |
Review |
436 |
Molecular |
Hypodysfibrinogenemia, congenital |
FGA |
Review |
437 |
Molecular |
|
FGF1 |
Review |
438 |
Molecular |
Hypophosphatemic rickets, autosomal dominant |
FGF23 |
Review |
439 |
Molecular |
Tumoral calcinosis, hyperphosphatemic, familial, 2 |
FGF23 |
Review |
440 |
Molecular |
Pfeiffer syndrome |
FGFR1 |
Review |
441 |
Molecular |
Jackson-Weiss syndrome |
FGFR1 |
Review |
442 |
Molecular |
Hypogonadotropic hypogonadism 2 with or without anosmia |
FGFR1 |
Review |
443 |
Molecular |
Osteoglophonic dysplasia |
FGFR1 |
Review |
444 |
Molecular |
Trigonocephaly 1 |
FGFR1 |
Review |
445 |
Molecular |
Encephalocraniocutaneous lipomatosis |
FGFR1 |
Review |
446 |
Molecular |
Hartsfield syndrome |
FGFR1 |
Review |
447 |
Molecular |
Hemophagocytic lymphohistiocytosis, familial, 1 |
FHL1 |
Review |
448 |
Molecular |
Yunis-Varon syndrome |
FIG4 |
Review |
449 |
Molecular |
Amyotrophic lateral sclerosis 11 |
FIG4 |
Review |
450 |
Molecular |
?Polymicrogyria, bilateral temporooccipital |
FIG4 |
Review |
451 |
Molecular |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
FKTN |
Review |
452 |
Molecular |
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 |
FKTN |
Review |
453 |
Molecular |
Cardiomyopathy, dilated, 1X |
FKTN |
Review |
454 |
Molecular |
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 |
FKTN |
Review |
455 |
Molecular |
Colorectal cancer, somatic |
FLCN |
Review |
456 |
Molecular |
Birt-Hogg-Dube syndrome |
FLCN |
Review |
457 |
Molecular |
Renal carcinoma, chromophobe, somatic |
FLCN |
Review |
458 |
Molecular |
Pneumothorax, primary spontaneous |
FLCN |
Review |
459 |
Molecular |
Neurodegeneration due to cerebral folate transport deficiency |
FOLR1 |
Review |
460 |
Molecular |
Anterior segment dysgenesis 3, multiple subtypes |
FOXC1 |
Review |
461 |
Molecular |
Axenfeld-Rieger syndrome, type 3 |
FOXC1 |
Review |
462 |
Molecular |
Rett syndrome, congenital variant |
FOXG1 |
Review |
463 |
Molecular |
Blepharophimosis, epicanthus inversus, and ptosis, type 1 |
FOXL2 |
Review |
464 |
Molecular |
Blepharophimosis, epicanthus inversus, and ptosis, type 2 |
FOXL2 |
Review |
465 |
Molecular |
Premature ovarian failure 3 |
FOXL2 |
Review |
466 |
Molecular |
Fraser syndrome 1 |
FRAS1 |
Review |
467 |
Molecular |
Ovarian dysgenesis 1 |
FSHR |
Review |
468 |
Molecular |
Ovarian response to FSH stimulation |
FSHR |
Review |
469 |
Molecular |
Ovarian hyperstimulation syndrome |
FSHR |
Review |
470 |
Molecular |
Neurodegeneration with brain iron accumulation 3 |
FTL |
Review |
471 |
Molecular |
L-ferritin deficiency, dominant and recessive |
FTL |
Review |
472 |
Molecular |
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia |
FUS |
Review |
473 |
Molecular |
Essential tremor, hereditary, 4 |
FUS |
Review |
474 |
Molecular |
Exudative vitreoretinopathy 1 |
FZD4 |
Review |
475 |
Molecular |
Retinopathy of prematurity |
FZD4 |
Review |
476 |
Molecular |
Glycogen storage disease Ia |
G6PC |
Review |
477 |
Molecular |
Glycogen storage disease II |
GAA |
Review |
478 |
Molecular |
{Epilepsy, childhood absence, susceptibility to, 4} |
GABRA1 |
Review |
479 |
Molecular |
{Epilepsy, juvenile myoclonic, susceptibility to, 5} |
GABRA1 |
Review |
480 |
Molecular |
Epileptic encephalopathy, early infantile, 19 |
GABRA1 |
Review |
481 |
Molecular |
Epilepsy, generalized, with febrile seizures plus, type 3 |
GABRG2 |
Review |
482 |
Molecular |
Febrile seizures, familial, 8 |
GABRG2 |
Review |
483 |
Molecular |
Epileptic encephalopathy, early infantile, 74 |
GABRG2 |
Review |
484 |
Molecular |
Krabbe disease |
GALC |
Review |
485 |
Molecular |
Mucopolysaccharidosis IVA |
GALNS |
Review |
486 |
Molecular |
Galactosemia |
GALT |
Review |
487 |
Molecular |
Cerebral creatine deficiency syndrome 2 |
GAMT |
Review |
488 |
Molecular |
Giant axonal neuropathy-1 |
GAN |
Review |
489 |
Molecular |
Leukemia, megakaryoblastic, with or without Down syndrome, somatic |
GATA1 |
Review |
490 |
Molecular |
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia |
GATA1 |
Review |
491 |
Molecular |
Anemia, X-linked, with/without neutropenia and/or platelet abnormalities |
GATA1 |
Review |
492 |
Molecular |
Thrombocytopenia with beta-thalassemia, X-linked |
GATA1 |
Review |
493 |
Molecular |
Hypoparathyroidism, sensorineural deafness, and renal dysplasia |
GATA3 |
Review |
494 |
Molecular |
Tetralogy of Fallot |
GATA6 |
Review |
495 |
Molecular |
Persistent truncus arteriosus |
GATA6 |
Review |
496 |
Molecular |
Pancreatic agenesis and congenital heart defects |
GATA6 |
Review |
497 |
Molecular |
Atrioventricular septal defect 5 |
GATA6 |
Review |
498 |
Molecular |
Atrial septal defect 9 |
GATA6 |
Review |
499 |
Molecular |
Fanconi renotubular syndrome 1 |
GATM |
Review |
500 |
Molecular |
Cerebral creatine deficiency syndrome 3 |
GATM |
Review |
501 |
Molecular |
{Lewy body dementia, susceptibility to} |
GBA |
Review |
502 |
Molecular |
{Parkinson disease, late-onset, susceptibility to} |
GBA |
Review |
503 |
Molecular |
Gaucher disease, type I |
GBA |
Review |
504 |
Molecular |
Gaucher disease, type II |
GBA |
Review |
505 |
Molecular |
Gaucher disease, type III |
GBA |
Review |
506 |
Molecular |
Gaucher disease, type IIIC |
GBA |
Review |
507 |
Molecular |
Gaucher disease, perinatal lethal |
GBA |
Review |
508 |
Molecular |
Glycogen storage disease IV |
GBE1 |
Review |
509 |
Molecular |
Polyglucosan body disease, adult form |
GBE1 |
Review |
510 |
Molecular |
Glutaricaciduria, type I |
GCDH |
Review |
511 |
Molecular |
MODY, type II |
GCK |
Review |
512 |
Molecular |
Diabetes mellitus, noninsulin-dependent, late onset |
GCK |
Review |
513 |
Molecular |
Hyperinsulinemic hypoglycemia, familial, 3 |
GCK |
Review |
514 |
Molecular |
Diabetes mellitus, permanent neonatal |
GCK |
Review |
515 |
Molecular |
Hyperparathyroidism 4 |
GCM2 |
Review |
516 |
Molecular |
Hypoparathyroidism, familial isolated 2 |
GCM2 |
Review |
517 |
Molecular |
Glycine encephalopathy |
GCSH |
Review |
518 |
Molecular |
Right atrial isomerism (Ivemark) |
GDF1 |
Review |
519 |
Molecular |
Congenital heart defects, multiple types, 6 |
GDF1 |
Review |
520 |
Molecular |
Klippel-Feil syndrome 3, autosomal dominant |
GDF3 |
Review |
521 |
Molecular |
Microphthalmia with coloboma 6 |
GDF3 |
Review |
522 |
Molecular |
Microphthalmia, isolated 7 |
GDF3 |
Review |
523 |
Molecular |
Klippel-Feil syndrome 1, autosomal dominant |
GDF6 |
Review |
524 |
Molecular |
Microphthalmia, isolated 4 |
GDF6 |
Review |
525 |
Molecular |
Microphthalmia with coloboma 6, digenic |
GDF6 |
Review |
526 |
Molecular |
Leber congenital amaurosis 17 |
GDF6 |
Review |
527 |
Molecular |
Multiple synostoses syndrome 4 |
GDF6 |
Review |
528 |
Molecular |
Alexander disease |
GFAP |
Review |
529 |
Molecular |
?Neutropenia, nonimmune chronic idiopathic, of adults |
GFI |
Review |
530 |
Molecular |
Neutropenia, severe congenital 2, autosomal dominant |
GFI |
Review |
531 |
Molecular |
Growth hormone deficiency, isolated, type II |
GH1 |
Review |
532 |
Molecular |
Growth hormone deficiency, isolated, type IA |
GH1 |
Review |
533 |
Molecular |
Kowarski syndrome |
GH1 |
Review |
534 |
Molecular |
Growth hormone deficiency, isolated, type IB |
GH1 |
Review |
535 |
Molecular |
{Hypercholesterolemia, familial, modifier of} |
GHR |
Review |
536 |
Molecular |
Laron dwarfism |
GHR |
Review |
537 |
Molecular |
Growth hormone insensitivity, partial |
GHR |
Review |
538 |
Molecular |
Increased responsiveness to growth hormone |
GHR |
Review |
539 |
Molecular |
Vohwinkel syndrome |
GJB2 |
Review |
540 |
Molecular |
Keratitis-ichthyosis-deafness syndrome |
GJB2 |
Review |
541 |
Molecular |
Keratoderma, palmoplantar, with deafness |
GJB2 |
Review |
542 |
Molecular |
Bart-Pumphrey syndrome |
GJB2 |
Review |
543 |
Molecular |
Deafness, autosomal recessive 1A |
GJB2 |
Review |
544 |
Molecular |
Deafness, autosomal dominant 3A |
GJB2 |
Review |
545 |
Molecular |
Hystrix-like ichthyosis with deafness |
GJB2 |
Review |
546 |
Molecular |
Erythrokeratodermia variabilis et progressiva 1 |
GJB3 |
Review |
547 |
Molecular |
Deafness, digenic, GJB2+GJB3 |
GJB3 |
Review |
548 |
Molecular |
Deafness, autosomal dominant 2B |
GJB3 |
Review |
549 |
Molecular |
Deafness, autosomal dominant, with peripheral neuropathy |
GJB3 |
Review |
550 |
Molecular |
Deafness, autosomal recessive |
GJB3 |
Review |
551 |
Molecular |
Ectodermal dysplasia 2, Clouston type |
GJB6 |
Review |
552 |
Molecular |
Deafness, digenic GJB2+GJB6 |
GJB6 |
Review |
553 |
Molecular |
Deafness, autosomal dominant 3B |
GJB6 |
Review |
554 |
Molecular |
Deafness, autosomal recessive 1B |
GJB6 |
Review |
555 |
Molecular |
Leukodystrophy, hypomyelinating, 2 |
GJC2 |
Review |
556 |
Molecular |
Spastic paraplegia 44, autosomal recessive |
GJC2 |
Review |
557 |
Molecular |
Lymphatic malformation 3 |
GJC2 |
Review |
558 |
Molecular |
GM1-gangliosidosis, type I |
GLB1 |
Review |
559 |
Molecular |
GM1-gangliosidosis, type II |
GLB1 |
Review |
560 |
Molecular |
GM1-gangliosidosis, type III |
GLB1 |
Review |
561 |
Molecular |
Mucopolysaccharidosis type IVB (Morquio) |
GLB1 |
Review |
562 |
Molecular |
Glycine encephalopathy |
GLDC |
Review |
563 |
Molecular |
Holoprosencephaly 9 |
GLI2 |
Review |
564 |
Molecular |
Culler-Jones syndrome |
GLI2 |
Review |
565 |
Molecular |
Pallister-Hall syndrome |
GLI3 |
Review |
566 |
Molecular |
Polydactyly, postaxial, types A1 and B |
GLI3 |
Review |
567 |
Molecular |
Polydactyly, preaxial, type IV |
GLI3 |
Review |
568 |
Molecular |
Greig cephalopolysyndactyly syndrome |
GLI3 |
Review |
569 |
Molecular |
{Hypothalamic hamartomas, somatic} |
GLI3 |
Review |
570 |
Molecular |
Hyperekplexia 1 |
GLRA1 |
Review |
571 |
Molecular |
Hyperinsulinism-hyperammonemia syndrome |
GLUD1 |
Review |
572 |
Molecular |
Glutamine deficiency, congenital |
GLUL |
Review |
573 |
Molecular |
Hypocalciuric hypercalcemia, type II |
GNA11 |
Review |
574 |
Molecular |
Hypocalcemia, autosomal dominant 2 |
GNA11 |
Review |
575 |
Molecular |
Developmental and epileptic encephalopathy 17 |
GNAO1 |
Review |
576 |
Molecular |
Neurodevelopmental disorder with involuntary movements |
GNAO1 |
Review |
577 |
Molecular |
Capillary malformations, congenital, 1, somatic, mosaic |
GNAQ |
Review |
578 |
Molecular |
Sturge-Weber syndrome, somatic, mosaic |
GNAQ |
Review |
579 |
Molecular |
Pseudohypoparathyroidism Ia |
GNAS |
Review |
580 |
Molecular |
Osseous heteroplasia, progressive |
GNAS |
Review |
581 |
Molecular |
McCune-Albright syndrome, somatic, mosaic |
GNAS |
Review |
582 |
Molecular |
ACTH-independent macronodular adrenal hyperplasia |
GNAS |
Review |
583 |
Molecular |
Pseudohypoparathyroidism Ib |
GNAS |
Review |
584 |
Molecular |
Pseudohypoparathyroidism Ic |
GNAS |
Review |
585 |
Molecular |
Pseudopseudohypoparathyroidism |
GNAS |
Review |
586 |
Molecular |
Pituitary adenoma 3, multiple types, somatic |
GNAS |
Review |
587 |
Molecular |
Mucolipidosis II alpha/beta |
GNPTAB |
Review |
588 |
Molecular |
Mucolipidosis III alpha/beta |
GNPTAB |
Review |
589 |
Molecular |
Bernard-Soulier syndrome, type A2 (dominant) |
GP1BA |
Review |
590 |
Molecular |
von Willebrand disease, platelet-type |
GP1BA |
Review |
591 |
Molecular |
Bernard-Soulier syndrome, type A1 (recessive) |
GP1BA |
Review |
592 |
Molecular |
{Nonarteritic anterior ischemic optic neuropathy, susceptibility to} |
GP1BA |
Review |
593 |
Molecular |
Bernard-Soulier syndrome, type B |
GP1BB |
Review |
594 |
Molecular |
Giant platelet disorder, isolated |
GP1BB |
Review |
595 |
Molecular |
Wilms tumor, somatic |
GPC3 |
Review |
596 |
Molecular |
Simpson-Golabi-Behmel syndrome, type 1 |
GPC3 |
Review |
597 |
Molecular |
Ocular albinism, type I, Nettleship-Falls type |
GPR143 |
Review |
598 |
Molecular |
Nystagmus 6, congenital, X-linked |
GPR143 |
Review |
599 |
Molecular |
Hemolytic anemia due to glutathione synthetase deficiency |
GSS |
Review |
600 |
Molecular |
Glutathione synthetase deficiency |
GSS |
Review |
601 |
Molecular |
Leber congenital amaurosis 1 |
GUCY2D |
Review |
602 |
Molecular |
?Choroidal dystrophy, central areolar 1 |
GUCY2D |
Review |
603 |
Molecular |
Cone-rod dystrophy 6 |
GUCY2D |
Review |
604 |
Molecular |
Night blindness, congenital stationary, type 1I |
GUCY2D |
Review |
605 |
Molecular |
Glycogen storage disease 0, muscle |
GYS1 |
Review |
606 |
Molecular |
Glycogen storage disease 0, liver |
GYS2 |
Review |
607 |
Molecular |
Trifunctional protein deficiency |
HADHA |
Review |
608 |
Molecular |
Fatty liver, acute, of pregnancy |
HADHA |
Review |
609 |
Molecular |
HELLP syndrome, maternal, of pregnancy |
HADHA |
Review |
610 |
Molecular |
LCHAD deficiency |
HADHA |
Review |
611 |
Molecular |
Megalencephalic leukoencephalopathy with subcortical cysts 2A |
HEPACAM |
Review |
612 |
Molecular |
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation |
HEPACAM |
Review |
613 |
Molecular |
Growth hormone deficiency with pituitary anomalies |
HESX1 |
Review |
614 |
Molecular |
Pituitary hormone deficiency, combined, 5 |
HESX1 |
Review |
615 |
Molecular |
Septooptic dysplasia |
HESX1 |
Review |
616 |
Molecular |
Sandhoff disease, infantile, juvenile, and adult forms |
HEXB |
Review |
617 |
Molecular |
Holocarboxylase synthetase deficiency |
HLCS |
Review |
618 |
Molecular |
Porphyria, acute intermittent |
HMBS |
Review |
619 |
Molecular |
Porphyria, acute intermittent, nonerythroid variant |
HMBS |
Review |
620 |
Molecular |
HMG-CoA lyase deficiency |
HMGCL |
Review |
621 |
Molecular |
{Diabetes mellitus, noninsulin-dependent, 2} |
HNF1A |
Review |
622 |
Molecular |
Hepatic adenoma, somatic |
HNF1A |
Review |
623 |
Molecular |
Renal cell carcinoma |
HNF1A |
Review |
624 |
Molecular |
{Diabetes mellitus, insulin-dependent} |
HNF1A |
Review |
625 |
Molecular |
MODY, type III |
HNF1A |
Review |
626 |
Molecular |
Diabetes mellitus, insulin-dependent, 20 |
HNF1A |
Review |
627 |
Molecular |
Diabetes mellitus, noninsulin-dependent |
HNF1B |
Review |
628 |
Molecular |
Renal cysts and diabetes syndrome |
HNF1B |
Review |
629 |
Molecular |
{Renal cell carcinoma} |
HNF1B |
Review |
630 |
Molecular |
MODY, type I |
HNF4A |
Review |
631 |
Molecular |
{Diabetes mellitus, noninsulin-dependent} |
HNF4A |
Review |
632 |
Molecular |
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young |
HNF4A |
Review |
633 |
Molecular |
Brachydactyly, type D |
HOXD13 |
Review |
634 |
Molecular |
Brachydactyly, type E |
HOXD13 |
Review |
635 |
Molecular |
Synpolydactyly 1 |
HOXD13 |
Review |
636 |
Molecular |
Syndactyly, type V |
HOXD13 |
Review |
637 |
Molecular |
Brachydactyly-syndactyly syndrome |
HOXD13 |
Review |
638 |
Molecular |
Digital clubbing, isolated congenital |
HPGD |
Review |
639 |
Molecular |
Cranioosteoarthropathy |
HPGD |
Review |
640 |
Molecular |
Hypertrophic osteoarthropathy, primary, autosomal recessive 1 |
HPGD |
Review |
641 |
Molecular |
Lesch-Nyhan syndrome |
HPRT1 |
Review |
642 |
Molecular |
Hyperuricemia, HRPT-related |
HPRT1 |
Review |
643 |
Molecular |
Urofacial syndrome 1 |
HPSE2 |
Review |
644 |
Molecular |
Pseudohermaphroditism, male, with gynecomastia |
HSD17B3 |
Review |
645 |
Molecular |
Perrault syndrome 1 |
HSD17B4 |
Review |
646 |
Molecular |
D-bifunctional protein deficiency |
HSD17B4 |
Review |
647 |
Molecular |
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency |
HSD3B2 |
Review |
648 |
Molecular |
Hydrolethalus syndrome |
HYLS1 |
Review |
649 |
Molecular |
|
IFNAR1 |
Review |
650 |
Molecular |
Short-rib thoracic dysplasia 2 with or without polydactyly |
IFT80 |
Review |
651 |
Molecular |
Ectodermal dysplasia and immunodeficiency 1 |
IKBKG |
Review |
652 |
Molecular |
Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency |
IKBKG |
Review |
653 |
Molecular |
Immunodeficiency, isolated |
IKBKG |
Review |
654 |
Molecular |
Immunodeficiency 33 |
IKBKG |
Review |
655 |
Molecular |
Invasive pneumococcal disease, recurrent isolated, 2 |
IKBKG |
Review |
656 |
Molecular |
Incontinentia pigmenti |
IKBKG |
Review |
657 |
Molecular |
Inflammatory bowel disease 28, early onset, autosomal recessive |
IL10RA |
Review |
658 |
Molecular |
{Hepatitis B virus, susceptibility to} |
IL10RB |
Review |
659 |
Molecular |
Inflammatory bowel disease 25, early onset, autosomal recessive |
IL10RB |
Review |
660 |
Molecular |
Diabetes mellitus, insulin-dependent, 2 |
INS |
Review |
661 |
Molecular |
Diabetes mellitus, permanent neonatal |
INS |
Review |
662 |
Molecular |
Maturity-onset diabetes of the young, type 10 |
INS |
Review |
663 |
Molecular |
Hyperproinsulinemia |
INS |
Review |
664 |
Molecular |
Leprechaunism |
INSR |
Review |
665 |
Molecular |
Rabson-Mendenhall syndrome |
INSR |
Review |
666 |
Molecular |
Hyperinsulinemic hypoglycemia, familial, 5 |
INSR |
Review |
667 |
Molecular |
Diabetes mellitus, insulin-resistant, with acanthosis nigricans |
INSR |
Review |
668 |
Molecular |
van der Woude syndrome |
IRF6 |
Review |
669 |
Molecular |
Popliteal pterygium syndrome 1 |
IRF6 |
Review |
670 |
Molecular |
{Orofacial cleft 6} |
IRF6 |
Review |
671 |
Molecular |
Immunodeficiency 39 |
IRF7 |
Review |
672 |
Molecular |
Immunodeficiency 65, susceptibility to viral infections |
IRF9 |
Review |
673 |
Molecular |
Bleeding disorder, platelet-type, 16, autosomal dominant |
ITGA2B |
Review |
674 |
Molecular |
Glanzmann thrombasthenia |
ITGA2B |
Review |
675 |
Molecular |
Thrombocytopenia, neonatal alloimmune, BAK antigen related |
ITGA2B |
Review |
676 |
Molecular |
Leukocyte adhesion deficiency |
ITGB2 |
Review |
677 |
Molecular |
Isovaleric acidemia |
IVD |
Review |
678 |
Molecular |
Alagille syndrome 1 |
JAG1 |
Review |
679 |
Molecular |
Tetralogy of Fallot |
JAG1 |
Review |
680 |
Molecular |
?Deafness, congenital heart defects, and posterior embryotoxon |
JAG1 |
Review |
681 |
Molecular |
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) |
KAL1(ANOS1) |
Review |
682 |
Molecular |
Jervell and Lange-Nielsen syndrome 2 |
KCNE1 |
Review |
683 |
Molecular |
Long QT syndrome 5 |
KCNE1 |
Review |
684 |
Molecular |
Bartter syndrome, type 2 |
KCNJ1 |
Review |
685 |
Molecular |
Enlarged vestibular aqueduct, digenic |
KCNJ10 |
Review |
686 |
Molecular |
SESAME syndrome |
KCNJ10 |
Review |
687 |
Molecular |
{Diabetes mellitus, type 2, susceptibility to} |
KCNJ11 |
Review |
688 |
Molecular |
Hyperinsulinemic hypoglycemia, familial, 2 |
KCNJ11 |
Review |
689 |
Molecular |
Diabetes, permanent neonatal, with or without neurologic features |
KCNJ11 |
Review |
690 |
Molecular |
Diabetes mellitus, transient neonatal, 3 |
KCNJ11 |
Review |
691 |
Molecular |
Maturity-onset diabetes of the young, type 13 |
KCNJ11 |
Review |
692 |
Molecular |
{Long QT syndrome 1, acquired, susceptibility to} |
KCNQ1 |
Review |
693 |
Molecular |
Long QT syndrome 1 |
KCNQ1 |
Review |
694 |
Molecular |
Jervell and Lange-Nielsen syndrome |
KCNQ1 |
Review |
695 |
Molecular |
Atrial fibrillation, familial, 3 |
KCNQ1 |
Review |
696 |
Molecular |
Short QT syndrome 2 |
KCNQ1 |
Review |
697 |
Molecular |
Deafness, autosomal dominant 2A |
KCNQ4 |
Review |
698 |
Molecular |
Cornea plana 2, autosomal recessive |
KERA |
Review |
699 |
Molecular |
Pheochromocytoma |
KIF1B |
Review |
700 |
Molecular |
{Neuroblastoma, susceptibility to, 1} |
KIF1B |
Review |
701 |
Molecular |
Mastocytosis, cutaneous |
KIT |
Review |
702 |
Molecular |
Mastocytosis, systemic, somatic |
KIT |
Review |
703 |
Molecular |
Piebaldism |
KIT |
Review |
704 |
Molecular |
Germ cell tumors, somatic |
KIT |
Review |
705 |
Molecular |
Leukemia, acute myeloid, somatic |
KIT |
Review |
706 |
Molecular |
Gastrointestinal stromal tumor, familial |
KIT |
Review |
707 |
Molecular |
Maturity-onset diabetes of the young, type VII |
KLF11 |
Review |
708 |
Molecular |
Pseudohypoaldosteronism, type IID |
KLHL3 |
Review |
709 |
Molecular |
Kabuki syndrome 1 |
KMT2D |
Review |
710 |
Molecular |
Epidermolytic hyperkeratosis |
KRT1 |
Review |
711 |
Molecular |
Palmoplantar keratoderma, epidermolytic |
KRT1 |
Review |
712 |
Molecular |
Ichthyosis histrix, Curth-Macklin type |
KRT1 |
Review |
713 |
Molecular |
Palmoplantar keratoderma, nonepidermolytic |
KRT1 |
Review |
714 |
Molecular |
Ichthyosis, cyclic, with epidermolytic hyperkeratosis |
KRT1 |
Review |
715 |
Molecular |
Keratosis palmoplantaris striata III |
KRT1 |
Review |
716 |
Molecular |
Dermatopathia pigmentosa reticularis |
KRT14 |
Review |
717 |
Molecular |
Epidermolysis bullosa simplex, Dowling-Meara type |
KRT14 |
Review |
718 |
Molecular |
Epidermolysis bullosa simplex, Weber-Cockayne type |
KRT14 |
Review |
719 |
Molecular |
Epidermolysis bullosa simplex, Koebner type |
KRT14 |
Review |
720 |
Molecular |
Naegeli-Franceschetti-Jadassohn syndrome |
KRT14 |
Review |
721 |
Molecular |
Epidermolysis bullosa simplex, recessive 1 |
KRT14 |
Review |
722 |
Molecular |
Epidermolysis bullosa simplex, Dowling-Meara type |
KRT5 |
Review |
723 |
Molecular |
Epidermolysis bullosa simplex, Weber-Cockayne type |
KRT5 |
Review |
724 |
Molecular |
Epidermolysis bullosa simplex, Koebner type |
KRT5 |
Review |
725 |
Molecular |
Epidermolysis bullosa simplex-MP |
KRT5 |
Review |
726 |
Molecular |
Dowling-Degos disease 1 |
KRT5 |
Review |
727 |
Molecular |
Epidermolysis bullosa simplex, recessive 1 |
KRT5 |
Review |
728 |
Molecular |
Epidermolysis bullosa simplex-MCR |
KRT5 |
Review |
729 |
Molecular |
Palmoplantar keratoderma, epidermolytic |
KRT9 |
Review |
730 |
Molecular |
Coronary artery disease |
KSR2 |
Review |
731 |
Molecular |
CRASH syndrome |
L1CAM |
Review |
732 |
Molecular |
MASA syndrome |
L1CAM |
Review |
733 |
Molecular |
Corpus callosum, partial agenesis of |
L1CAM |
Review |
734 |
Molecular |
Hydrocephalus due to aqueductal stenosis |
L1CAM |
Review |
735 |
Molecular |
Hydrocephalus with congenital idiopathic intestinal pseudoobstruction |
L1CAM |
Review |
736 |
Molecular |
Hydrocephalus with Hirschsprung disease |
L1CAM |
Review |
737 |
Molecular |
L-2-hydroxyglutaric aciduria |
L2HGDH |
Review |
738 |
Molecular |
Pierson syndrome |
LAMB2 |
Review |
739 |
Molecular |
Nephrotic syndrome, type 5, with or without ocular abnormalities |
LAMB2 |
Review |
740 |
Molecular |
Amelogenesis imperfecta, type IA |
LAMB3 |
Review |
741 |
Molecular |
Epidermolysis bullosa, junctional, non-Herlitz type |
LAMB3 |
Review |
742 |
Molecular |
Epidermolysis bullosa, junctional, Herlitz type |
LAMB3 |
Review |
743 |
Molecular |
Wilson-Turner syndrome |
LAS1L |
Review |
744 |
Molecular |
Hypercholesterolemia, familial, 1 |
LDLR |
Review |
745 |
Molecular |
LDL cholesterol level QTL2 |
LDLR |
Review |
746 |
Molecular |
Buschke-Ollendorff syndrome |
LEMD3 |
Review |
747 |
Molecular |
Osteopoikilosis with or without melorheostosis |
LEMD3 |
Review |
748 |
Molecular |
Obesity, morbid, due to leptin deficiency |
LEP |
Review |
749 |
Molecular |
Obesity, morbid, due to leptin receptor deficiency |
LEPR |
Review |
750 |
Molecular |
Hypogonadotropic hypogonadism 23 with or without anosmia |
LHB |
Review |
751 |
Molecular |
Leydig cell adenoma, somatic, with precocious puberty |
LHCGR |
Review |
752 |
Molecular |
Precocious puberty, male |
LHCGR |
Review |
753 |
Molecular |
Leydig cell hypoplasia with hypergonadotropic hypogonadism |
LHCGR |
Review |
754 |
Molecular |
Leydig cell hypoplasia with pseudohermaphroditism |
LHCGR |
Review |
755 |
Molecular |
Luteinizing hormone resistance, female |
LHCGR |
Review |
756 |
Molecular |
Stuve-Wiedemann syndrome+Schwartz-Jampel type 2 syndrome |
LIFR |
Review |
757 |
Molecular |
Cholesteryl ester storage disease |
LIPA |
Review |
758 |
Molecular |
Wolman disease |
LIPA |
Review |
759 |
Molecular |
Hypertriglyceridemia, Familial and Hyperlipoproteinemia, Type Iv |
LIPI |
Review |
760 |
Molecular |
Laurin-Sandrow syndrome |
LMBR1 |
Review |
761 |
Molecular |
Polydactyly, preaxial type II |
LMBR1 |
Review |
762 |
Molecular |
Triphalangeal thumb, type I |
LMBR1 |
Review |
763 |
Molecular |
Triphalangeal thumb-polysyndactyly syndrome |
LMBR1 |
Review |
764 |
Molecular |
Syndactyly, type IV |
LMBR1 |
Review |
765 |
Molecular |
Hypoplastic or aplastic tibia with polydactyly |
LMBR1 |
Review |
766 |
Molecular |
Acheiropody |
LMBR1 |
Review |
767 |
Molecular |
Cardiomyopathy, dilated, 1A |
LMNA |
Review |
768 |
Molecular |
Lipodystrophy, familial partial, type 2 |
LMNA |
Review |
769 |
Molecular |
Hutchinson-Gilford progeria |
LMNA |
Review |
770 |
Molecular |
Emery-Dreifuss muscular dystrophy 2, autosomal dominant |
LMNA |
Review |
771 |
Molecular |
Malouf syndrome |
LMNA |
Review |
772 |
Molecular |
Mandibuloacral dysplasia |
LMNA |
Review |
773 |
Molecular |
Restrictive dermopathy, lethal |
LMNA |
Review |
774 |
Molecular |
Heart-hand syndrome, Slovenian type |
LMNA |
Review |
775 |
Molecular |
Muscular dystrophy, congenital |
LMNA |
Review |
776 |
Molecular |
Emery-Dreifuss muscular dystrophy 3, autosomal recessive |
LMNA |
Review |
777 |
Molecular |
Myoglobinuria, acute recurrent, autosomal recessive |
LPIN1 |
Review |
778 |
Molecular |
Majeed syndrome |
LPIN2 |
Review |
779 |
Molecular |
Urofacial syndrome 2 |
LRIG2 |
Review |
780 |
Molecular |
{Parkinson disease 8} |
LRRK2 |
Review |
781 |
Molecular |
Chediak-Higashi syndrome |
LYST |
Review |
782 |
Molecular |
Noonan syndrome 2 |
LZTR1 |
Review |
783 |
Molecular |
{Schwannomatosis-2, susceptibility to} |
LZTR1 |
Review |
784 |
Molecular |
Noonan syndrome 10 |
LZTR1 |
Review |
785 |
Molecular |
Mannosidosis, alpha-, types I and II |
MAN2B1 |
Review |
786 |
Molecular |
46XY sex reversal 6 |
MAP3K1 |
Review |
787 |
Molecular |
{Obesity, resistence to (BMIQ20)} |
MC4R |
Review |
788 |
Molecular |
Obesity (BMIQ20) |
MC4R |
Review |
789 |
Molecular |
3-Methylcrotonyl-CoA carboxylase 1 deficiency |
MCCC1 |
Review |
790 |
Molecular |
3-Methylcrotonyl-CoA carboxylase 2 deficiency |
MCCC2 |
Review |
791 |
Molecular |
Microcephaly 1, primary, autosomal recessive |
MCPH1 |
Review |
792 |
Molecular |
Waardenburg syndrome/ocular albinism, digenic |
MITF |
Review |
793 |
Molecular |
Tietz albinism-deafness syndrome |
MITF |
Review |
794 |
Molecular |
Waardenburg syndrome, type 2A |
MITF |
Review |
795 |
Molecular |
{Melanoma, cutaneous malignant, susceptibility to, 8} |
MITF |
Review |
796 |
Molecular |
COMMAD syndrome |
MITF |
Review |
797 |
Molecular |
Precocious puberty, central, 2 |
MKRN3 |
Review |
798 |
Molecular |
Meckel syndrome 1 |
MKS1 |
Review |
799 |
Molecular |
Bardet-Biedl syndrome 13 |
MKS1 |
Review |
800 |
Molecular |
Joubert syndrome 28 |
MKS1 |
Review |
801 |
Molecular |
Megalencephalic leukoencephalopathy with subcortical cysts |
MLC1 |
Review |
802 |
Molecular |
Muir-Torre syndrome |
MLH1 |
Review |
803 |
Molecular |
Mismatch repair cancer syndrome |
MLH1 |
Review |
804 |
Molecular |
Colorectal cancer, hereditary nonpolyposis, type 2 |
MLH1 |
Review |
805 |
Molecular |
Methylmalonic aciduria, vitamin B12-responsive, cblB type |
MMAB |
Review |
806 |
Molecular |
Methylmalonic aciduria, mut(0) type |
MMUT(MUT) |
Review |
807 |
Molecular |
Molybdenum cofactor deficiency A |
MOCS1 |
Review |
808 |
Molecular |
Molybdenum cofactor deficiency B |
MOCS2 |
Review |
809 |
Molecular |
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) |
MPV17 |
Review |
810 |
Molecular |
Dejerine-Sottas disease |
MPZ |
Review |
811 |
Molecular |
Roussy-Levy syndrome |
MPZ |
Review |
812 |
Molecular |
Hypomyelinating neuropathy, congenital, 2 |
MPZ |
Review |
813 |
Molecular |
Colorectal cancer, hereditary nonpolyposis, type 1 |
MSH2 |
Review |
814 |
Molecular |
Muir-Torre syndrome |
MSH2 |
Review |
815 |
Molecular |
Mismatch repair cancer syndrome |
MSH2 |
Review |
816 |
Molecular |
Mismatch repair cancer syndrome |
MSH6 |
Review |
817 |
Molecular |
{Endometrial cancer, familial} |
MSH6 |
Review |
818 |
Molecular |
Colorectal cancer, hereditary nonpolyposis, type 5 |
MSH6 |
Review |
819 |
Molecular |
Basilicata-Akhtar syndrome |
MSL3 |
Review |
820 |
Molecular |
Tooth agenesis, selective, 1, with or without orofacial cleft |
MSX1 |
Review |
821 |
Molecular |
Ectodermal dysplasia 3, Witkop type |
MSX1 |
Review |
822 |
Molecular |
Orofacial cleft 5 |
MSX1 |
Review |
823 |
Molecular |
Parietal foramina 1 |
MSX2 |
Review |
824 |
Molecular |
Parietal foramina with cleidocranial dysplasia |
MSX2 |
Review |
825 |
Molecular |
Craniosynostosis 2 |
MSX2 |
Review |
826 |
Molecular |
Homocystinuria-megaloblastic anemia, cblG complementation type |
MTR |
Review |
827 |
Molecular |
{Neural tube defects, folate-sensitive, susceptibility to} |
MTR |
Review |
828 |
Molecular |
Homocystinuria-megaloblastic anemia, cbl E type |
MTRR |
Review |
829 |
Molecular |
{Neural tube defects, folate-sensitive, susceptibility to} |
MTRR |
Review |
830 |
Molecular |
Abetalipoproteinemia |
MTTP |
Review |
831 |
Molecular |
{Metabolic syndrome, protection against} |
MTTP |
Review |
832 |
Molecular |
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas |
MUTYH |
Review |
833 |
Molecular |
Adenomas, multiple colorectal |
MUTYH |
Review |
834 |
Molecular |
Gastric cancer, somatic |
MUTYH |
Review |
835 |
Molecular |
Porokeratosis 3, multiple types |
MVK |
Review |
836 |
Molecular |
Hyper-IgD syndrome |
MVK |
Review |
837 |
Molecular |
Mevalonic aciduria |
MVK |
Review |
838 |
Molecular |
Feingold syndrome 1 |
MYCN |
Review |
839 |
Molecular |
Macroglobulinemia, Waldenstrom, somatic |
MYD88 |
Review |
840 |
Molecular |
Pyogenic bacterial infections, recurrent, due to MYD88 deficiency |
MYD88 |
Review |
841 |
Molecular |
Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A |
MYH3 |
Review |
842 |
Molecular |
Arthrogryposis, distal, type 2A (Freeman-Sheldon) |
MYH3 |
Review |
843 |
Molecular |
Arthrogryposis, distal, type 2B3 (Sheldon-Hall) |
MYH3 |
Review |
844 |
Molecular |
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B |
MYH3 |
Review |
845 |
Molecular |
Laing distal myopathy |
MYH7 |
Review |
846 |
Molecular |
Scapuloperoneal syndrome, myopathic type |
MYH7 |
Review |
847 |
Molecular |
Cardiomyopathy, hypertrophic, 1 |
MYH7 |
Review |
848 |
Molecular |
Myopathy, myosin storage, autosomal recessive |
MYH7 |
Review |
849 |
Molecular |
Myopathy, myosin storage, autosomal dominant |
MYH7 |
Review |
850 |
Molecular |
Cardiomyopathy, dilated, 1S |
MYH7 |
Review |
851 |
Molecular |
Left ventricular noncompaction 5 |
MYH7 |
Review |
852 |
Molecular |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
MYH9 |
Review |
853 |
Molecular |
Deafness, autosomal dominant 17 |
MYH9 |
Review |
854 |
Molecular |
Microvillus inclusion disease |
MYO5B |
Review |
855 |
Molecular |
Usher syndrome, type 1B |
MYO7A |
Review |
856 |
Molecular |
Deafness, autosomal recessive 2 |
MYO7A |
Review |
857 |
Molecular |
Deafness, autosomal dominant 11 |
MYO7A |
Review |
858 |
Molecular |
Mucopolysaccharidosis type IIIB (Sanfilippo B) |
NAGLU |
Review |
859 |
Molecular |
N-acetylglutamate synthase deficiency |
NAGS |
Review |
860 |
Molecular |
Nijmegen breakage syndrome |
NBN |
Review |
861 |
Molecular |
Aplastic anemia |
NBN |
Review |
862 |
Molecular |
Leukemia, acute lymphoblastic |
NBN |
Review |
863 |
Molecular |
Chronic granulomatous disease due to deficiency of NCF-1 |
NCF1 |
Review |
864 |
Molecular |
Mitochondrial complex I deficiency, nuclear type 4 |
NDUFV1 |
Review |
865 |
Molecular |
{Diabetes mellitus, noninsulin-dependent} |
NEUROD1 |
Review |
866 |
Molecular |
Maturity-onset diabetes of the young 6 |
NEUROD1 |
Review |
867 |
Molecular |
Epilepsy, progressive myoclonic 2B (Lafora) |
NHLRC1 |
Review |
868 |
Molecular |
Cataract 40, X-linked |
NHS |
Review |
869 |
Molecular |
Nance-Horan syndrome |
NHS |
Review |
870 |
Molecular |
Cornelia de Lange syndrome 1 |
NIPBL |
Review |
871 |
Molecular |
{Autism susceptibility, X-linked 1} |
NLGN3 |
Review |
872 |
Molecular |
{Asperger syndrome susceptibility, X-linked 1} |
NLGN3 |
Review |
873 |
Molecular |
{Autism susceptibility, X-linked 2} |
NLGN4X |
Review |
874 |
Molecular |
Mental retardation, X-linked |
NLGN4X |
Review |
875 |
Molecular |
{Asperger syndrome susceptibility, X-linked 2} |
NLGN4X |
Review |
876 |
Molecular |
{Vitiligo-associated multiple autoimmune disease susceptibility 1} |
NLRP1 |
Review |
877 |
Molecular |
Palmoplantar carcinoma, multiple self-healing |
NLRP1 |
Review |
878 |
Molecular |
Autoinflammation with arthritis and dyskeratosis |
NLRP1 |
Review |
879 |
Molecular |
?Respiratory papillomatosis, juvenile recurrent, congenital |
NLRP1 |
Review |
880 |
Molecular |
Familial cold inflammatory syndrome 1 |
NLRP3 |
Review |
881 |
Molecular |
Keratoendothelitis fugax hereditaria |
NLRP3 |
Review |
882 |
Molecular |
Muckle-Wells syndrome |
NLRP3 |
Review |
883 |
Molecular |
CINCA syndrome |
NLRP3 |
Review |
884 |
Molecular |
Deafness, autosomal dominant 34, with or without inflammation |
NLRP3 |
Review |
885 |
Molecular |
Blau syndrome |
NOD2 |
Review |
886 |
Molecular |
{Inflammatory bowel disease 1, Crohn disease} |
NOD2 |
Review |
887 |
Molecular |
{Psoriatic arthritis, susceptibility to} |
NOD2 |
Review |
888 |
Molecular |
{Yao syndrome} |
NOD2 |
Review |
889 |
Molecular |
Hajdu-Cheney syndrome |
NOTCH2 |
Review |
890 |
Molecular |
Alagille syndrome 2 |
NOTCH2 |
Review |
891 |
Molecular |
Niemann-Pick disease, type C1 |
NPC1 |
Review |
892 |
Molecular |
Niemann-Pick disease, type D |
NPC1 |
Review |
893 |
Molecular |
Niemann-pick disease, type C2 |
NPC2 |
Review |
894 |
Molecular |
Nephronophthisis 1, juvenile |
NPHP1 |
Review |
895 |
Molecular |
Senior-Loken syndrome-1 |
NPHP1 |
Review |
896 |
Molecular |
Joubert syndrome 4 |
NPHP1 |
Review |
897 |
Molecular |
Nephrotic syndrome, type 1 |
NPHS1 |
Review |
898 |
Molecular |
Nephrotic syndrome, type 2 |
NPHS2 |
Review |
899 |
Molecular |
46XY sex reversal 2, dosage-sensitive |
NR0B1 |
Review |
900 |
Molecular |
Adrenal hypoplasia, congenital |
NR0B1 |
Review |
901 |
Molecular |
Pseudohypoaldosteronism type I, autosomal dominant |
NR0B1 |
Review |
902 |
Molecular |
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy |
NR3C2 |
Review |
903 |
Molecular |
Sotos syndrome 1 |
NSD1 |
Review |
904 |
Molecular |
Leukemia, acute myeloid |
NSD1 |
Review |
905 |
Molecular |
Insensitivity to pain, congenital, with anhidrosis |
NTRK1 |
Review |
906 |
Molecular |
Gyrate atrophy of choroid and retina with or without ornithinemia |
OAT |
Review |
907 |
Molecular |
3-M syndrome 2 |
OBSL1 |
Review |
908 |
Molecular |
Albinism, brown oculocutaneous |
OCA2 |
Review |
909 |
Molecular |
Albinism, oculocutaneous, type II |
OCA2 |
Review |
910 |
Molecular |
[Skin+hair+eye pigmentation 1, blond+brown hair] |
OCA2 |
Review |
911 |
Molecular |
[Skin+hair+eye pigmentation 1, blue+nonblue eyes] |
OCA2 |
Review |
912 |
Molecular |
Optic atrophy plus syndrome |
OPA1 |
Review |
913 |
Molecular |
Optic atrophy 1 |
OPA1 |
Review |
914 |
Molecular |
Behr syndrome |
OPA1 |
Review |
915 |
Molecular |
{Glaucoma, normal tension, susceptibility to} |
OPA1 |
Review |
916 |
Molecular |
?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) |
OPA1 |
Review |
917 |
Molecular |
Ornithine transcarbamylase deficiency |
OTC |
Review |
918 |
Molecular |
Succinyl CoA:3-oxoacid CoA transferase deficiency |
OXCT1 |
Review |
919 |
Molecular |
Osteogenesis imperfecta, type VIII |
P3H1 |
Review |
920 |
Molecular |
Lissencephaly 1 |
PAFAH1B1 |
Review |
921 |
Molecular |
Subcortical laminar heterotopia |
PAFAH1B1 |
Review |
922 |
Molecular |
Neurodegeneration with brain iron accumulation 1 |
PANK2 |
Review |
923 |
Molecular |
HARP syndrome |
PANK2 |
Review |
924 |
Molecular |
Papillorenal syndrome |
PAX2 |
Review |
925 |
Molecular |
Glomerulosclerosis, focal segmental, 7 |
PAX2 |
Review |
926 |
Molecular |
Craniofacial-deafness-hand syndrome |
PAX3 |
Review |
927 |
Molecular |
Waardenburg syndrome, type 3 |
PAX3 |
Review |
928 |
Molecular |
Waardenburg syndrome, type 1 |
PAX3 |
Review |
929 |
Molecular |
Rhabdomyosarcoma 2, alveolar |
PAX3 |
Review |
930 |
Molecular |
Diabetes mellitus, type 2 |
PAX4 |
Review |
931 |
Molecular |
Maturity-onset diabetes of the young, type IX |
PAX4 |
Review |
932 |
Molecular |
{Diabetes mellitus, ketosis-prone, susceptibility to} |
PAX4 |
Review |
933 |
Molecular |
Aniridia |
PAX6 |
Review |
934 |
Molecular |
Cataract with late-onset corneal dystrophy |
PAX6 |
Review |
935 |
Molecular |
?Coloboma, ocular |
PAX6 |
Review |
936 |
Molecular |
?Coloboma of optic nerve |
PAX6 |
Review |
937 |
Molecular |
?Morning glory disc anomaly |
PAX6 |
Review |
938 |
Molecular |
Foveal hypoplasia 1 |
PAX6 |
Review |
939 |
Molecular |
Keratitis |
PAX6 |
Review |
940 |
Molecular |
Optic nerve hypoplasia |
PAX6 |
Review |
941 |
Molecular |
Anterior segment dysgenesis 5, multiple subtypes |
PAX6 |
Review |
942 |
Molecular |
Tooth agenesis, selective, 3 |
PAX9 |
Review |
943 |
Molecular |
Pyruvate carboxylase deficiency |
PC |
Review |
944 |
Molecular |
Propionicacidemia |
PCCA |
Review |
945 |
Molecular |
Propionicacidemia |
PCCB |
Review |
946 |
Molecular |
Epileptic encephalopathy, early infantile, 9 |
PCDH19 |
Review |
947 |
Molecular |
{Low density lipoprotein cholesterol level QTL 1} |
PCSK9 |
Review |
948 |
Molecular |
Hypercholesterolemia, familial, 3 |
PCSK9 |
Review |
949 |
Molecular |
Multiple sclerosis, disease progression, modifier of |
PDCD1 |
Review |
950 |
Molecular |
Systemic lupus erythematosus, susceptibility to, 2} |
PDCD1 |
Review |
951 |
Molecular |
Striatal degeneration, autosomal dominant |
PDE8B |
Review |
952 |
Molecular |
Pigmented nodular adrenocortical disease, primary, 3 |
PDE8B |
Review |
953 |
Molecular |
Gastrointestinal stromal tumor, somatic or familial |
PDGFRA |
Review |
954 |
Molecular |
Hypereosinophilic syndrome, idiopathic, resistant to imatinib |
PDGFRA |
Review |
955 |
Molecular |
Myeloproliferative disorder with eosinophilia |
PDGFRB |
Review |
956 |
Molecular |
Myofibromatosis, infantile, 1 |
PDGFRB |
Review |
957 |
Molecular |
Premature aging syndrome, Penttinen type |
PDGFRB |
Review |
958 |
Molecular |
Basal ganglia calcification, idiopathic, 4 |
PDGFRB |
Review |
959 |
Molecular |
Kosaki overgrowth syndrome |
PDGFRB |
Review |
960 |
Molecular |
{Diabetes mellitus, type II, susceptibility to} |
PDX1 |
Review |
961 |
Molecular |
{Diabetes mellitus, type II, susceptibility to} |
PDX1 |
Review |
962 |
Molecular |
Pancreatic agenesis 1 |
PDX1 |
Review |
963 |
Molecular |
Pancreatic agenesis 1 |
PDX1 |
Review |
964 |
Molecular |
MODY, type IV |
PDX1 |
Review |
965 |
Molecular |
MODY, type IV |
PDX1 |
Review |
966 |
Molecular |
Peroxisome biogenesis disorder 1A (Zellweger) |
PEX1 |
Review |
967 |
Molecular |
Heimler syndrome 1 |
PEX1 |
Review |
968 |
Molecular |
Peroxisome biogenesis disorder 1B (NALD+IRD) |
PEX1 |
Review |
969 |
Molecular |
Rhizomelic chondrodysplasia punctata, type 1 |
PEX7 |
Review |
970 |
Molecular |
Peroxisome biogenesis disorder 9B |
PEX7 |
Review |
971 |
Molecular |
Immunodeficiency 23 |
PGM3 |
Review |
972 |
Molecular |
Hypophosphatemic rickets, X-linked dominant |
PHEX |
Review |
973 |
Molecular |
Central hypoventilation syndrome, congenital, with or without Hirschsprung disease |
PHOX2B |
Review |
974 |
Molecular |
{Neuroblastoma, susceptibility to, 2} |
PHOX2B |
Review |
975 |
Molecular |
Neuroblastoma with Hirschsprung disease |
PHOX2B |
Review |
976 |
Molecular |
Arthrogryposis, distal, type 5 |
PIEZO2 |
Review |
977 |
Molecular |
Arthrogryposis, distal, type 3 |
PIEZO2 |
Review |
978 |
Molecular |
Marden-Walker syndrome |
PIEZO2 |
Review |
979 |
Molecular |
Arthrogryposis, distal, with impaired proprioception and touch |
PIEZO2 |
Review |
980 |
Molecular |
Epileptic encephalopathy, early infantile, 80 |
PIGB |
Review |
981 |
Molecular |
Hyperphosphatasia with mental retardation syndrome 1 |
PIGV |
Review |
982 |
Molecular |
Breast cancer, somatic |
PIK3CA |
Review |
983 |
Molecular |
Colorectal cancer, somatic |
PIK3CA |
Review |
984 |
Molecular |
Hepatocellular carcinoma, somatic |
PIK3CA |
Review |
985 |
Molecular |
Macrodactyly, somatic |
PIK3CA |
Review |
986 |
Molecular |
Nevus, epidermal, somatic |
PIK3CA |
Review |
987 |
Molecular |
Ovarian cancer, somatic |
PIK3CA |
Review |
988 |
Molecular |
Keratosis, seborrheic, somatic |
PIK3CA |
Review |
989 |
Molecular |
Nonsmall cell lung cancer, somatic |
PIK3CA |
Review |
990 |
Molecular |
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic |
PIK3CA |
Review |
991 |
Molecular |
CLOVE syndrome, somatic |
PIK3CA |
Review |
992 |
Molecular |
CLAPO syndrome, somatic |
PIK3CA |
Review |
993 |
Molecular |
Gastric cancer, somatic |
PIK3CA |
Review |
994 |
Molecular |
Cowden syndrome 5 |
PIK3CA |
Review |
995 |
Molecular |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
PIK3R2 |
Review |
996 |
Molecular |
Anterior segment dysgenesis 4 |
PITX2 |
Review |
997 |
Molecular |
Axenfeld-Rieger syndrome, type 1 |
PITX2 |
Review |
998 |
Molecular |
Ring dermoid of cornea |
PITX2 |
Review |
999 |
Molecular |
Polycystic kidney disease 2 |
PKD2 |
Review |
1000 |
Molecular |
Polycystic kidney disease 4, with or without hepatic disease |
PKHD1 |
Review |
1001 |
Molecular |
Infantile neuroaxonal dystrophy 1 |
PLA2G6 |
Review |
1002 |
Molecular |
Neurodegeneration with brain iron accumulation 2B |
PLA2G6 |
Review |
1003 |
Molecular |
Parkinson disease 14, autosomal recessive |
PLA2G6 |
Review |
1004 |
Molecular |
Epidermolysis bullosa simplex 5A, Ogna type |
PLEC |
Review |
1005 |
Molecular |
Epidermolysis bullosa simplex 5B, with muscular dystrophy |
PLEC |
Review |
1006 |
Molecular |
Epidermolysis bullosa simplex 5C, with pyloric atresia |
PLEC |
Review |
1007 |
Molecular |
Muscular dystrophy, limb-girdle, autosomal recessive 17 |
PLEC |
Review |
1008 |
Molecular |
?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive |
PLEC |
Review |
1009 |
Molecular |
Dysplasminogenemia |
PLG |
Review |
1010 |
Molecular |
Plasminogen deficiency, type I |
PLG |
Review |
1011 |
Molecular |
Pelizaeus-Merzbacher disease |
PLP1 |
Review |
1012 |
Molecular |
Spastic paraplegia 2, X-linked |
PLP1 |
Review |
1013 |
Molecular |
?Neuropathy, inflammatory demyelinating |
PMP22 |
Review |
1014 |
Molecular |
Dejerine-Sottas disease |
PMP22 |
Review |
1015 |
Molecular |
Neuropathy, recurrent, with pressure palsies |
PMP22 |
Review |
1016 |
Molecular |
Roussy-Levy syndrome |
PMP22 |
Review |
1017 |
Molecular |
Mismatch repair cancer syndrome |
PMS2 |
Review |
1018 |
Molecular |
Colorectal cancer, hereditary nonpolyposis, type 4 |
PMS2 |
Review |
1019 |
Molecular |
White-Sutton syndrome |
POGZ |
Review |
1020 |
Molecular |
Progressive external ophthalmoplegia, autosomal dominant 1 |
POLG |
Review |
1021 |
Molecular |
Mitochondrial DNA depletion syndrome 4A (Alpers type) |
POLG |
Review |
1022 |
Molecular |
Progressive external ophthalmoplegia, autosomal recessive 1 |
POLG |
Review |
1023 |
Molecular |
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) |
POLG |
Review |
1024 |
Molecular |
Mitochondrial DNA depletion syndrome 4B (MNGIE type) |
POLG |
Review |
1025 |
Molecular |
{Obesity, early-onset, susceptibility to} |
POMC |
Review |
1026 |
Molecular |
Obesity, adrenal insufficiency, and red hair due to POMC deficiency |
POMC |
Review |
1027 |
Molecular |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 |
POMGNT1 |
Review |
1028 |
Molecular |
Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 |
POMGNT1 |
Review |
1029 |
Molecular |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 |
POMT1 |
Review |
1030 |
Molecular |
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 |
POMT1 |
Review |
1031 |
Molecular |
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 |
POMT1 |
Review |
1032 |
Molecular |
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis |
POR |
Review |
1033 |
Molecular |
Disordered steroidogenesis due to cytochrome P450 oxidoreductase |
POR |
Review |
1034 |
Molecular |
Ceroid lipofuscinosis, neuronal, 1 |
PPT1 |
Review |
1035 |
Molecular |
Hemophagocytic lymphohistiocytosis, familial, 2 |
PRF1 |
Review |
1036 |
Molecular |
Lymphoma, non-Hodgkin |
PRF1 |
Review |
1037 |
Molecular |
Aplastic anemia |
PRF1 |
Review |
1038 |
Molecular |
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
PRG4 |
Review |
1039 |
Molecular |
Wolff-Parkinson-White syndrome |
PRKAG2 |
Review |
1040 |
Molecular |
Glycogen storage disease of heart, lethal congenital |
PRKAG2 |
Review |
1041 |
Molecular |
Cardiomyopathy, hypertrophic 6 |
PRKAG2 |
Review |
1042 |
Molecular |
Ovarian cancer, somatic |
PRKN |
Review |
1043 |
Molecular |
Adenocarcinoma of lung, somatic |
PRKN |
Review |
1044 |
Molecular |
Parkinson disease, juvenile, type 2 |
PRKN |
Review |
1045 |
Molecular |
Thrombophilia due to protein C deficiency, autosomal dominant |
PROC |
Review |
1046 |
Molecular |
Thrombophilia due to protein C deficiency, autosomal recessive |
PROC |
Review |
1047 |
Molecular |
Hyperprolinemia, type I |
PRODH |
Review |
1048 |
Molecular |
{Schizophrenia, susceptibility to, 4} |
PRODH |
Review |
1049 |
Molecular |
Hypogonadotropic hypogonadism 4 with or without anosmia |
PROK2 |
Review |
1050 |
Molecular |
Stargardt disease 4 |
PROM1 |
Review |
1051 |
Molecular |
Macular dystrophy, retinal, 2 |
PROM1 |
Review |
1052 |
Molecular |
Retinitis pigmentosa 41 |
PROM1 |
Review |
1053 |
Molecular |
Cone-rod dystrophy 12 |
PROM1 |
Review |
1054 |
Molecular |
Pituitary hormone deficiency, combined, 2 |
PROP1 |
Review |
1055 |
Molecular |
Pancreatitis, hereditary |
PRSS1 |
Review |
1056 |
Molecular |
Trypsinogen deficiency |
PRSS1 |
Review |
1057 |
Molecular |
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies |
PRUNE1 |
Review |
1058 |
Molecular |
Pick disease |
PSEN1 |
Review |
1059 |
Molecular |
Dementia, frontotemporal |
PSEN1 |
Review |
1060 |
Molecular |
Alzheimer disease, type 3 |
PSEN1 |
Review |
1061 |
Molecular |
Alzheimer disease, type 3, with spastic paraparesis and apraxia |
PSEN1 |
Review |
1062 |
Molecular |
Alzheimer disease, type 3, with spastic paraparesis and unusual plaques |
PSEN1 |
Review |
1063 |
Molecular |
Cardiomyopathy, dilated, 1U |
PSEN1 |
Review |
1064 |
Molecular |
?Acne inversa, familial, 3 |
PSEN1 |
Review |
1065 |
Molecular |
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne |
PSTPIP1 |
Review |
1066 |
Molecular |
Pancreatic agenesis 2 |
PTF1A |
Review |
1067 |
Molecular |
Hypoparathyroidism, familial isolated 1 |
PTH |
Review |
1068 |
Molecular |
Glycogen storage disease VI |
PYGL |
Review |
1069 |
Molecular |
McArdle disease |
PYGM |
Review |
1070 |
Molecular |
Warburg micro syndrome 3 |
RAB18 |
Review |
1071 |
Molecular |
Carpenter syndrome |
RAB23 |
Review |
1072 |
Molecular |
Griscelli syndrome, type 2 |
RAB27A |
Review |
1073 |
Molecular |
Warburg micro syndrome 1 |
RAB3GAP1 |
Review |
1074 |
Molecular |
Small cell cancer of the lung, somatic |
RB1 |
Review |
1075 |
Molecular |
Bladder cancer, somatic |
RB1 |
Review |
1076 |
Molecular |
Retinoblastoma |
RB1 |
Review |
1077 |
Molecular |
Retinoblastoma, trilateral |
RB1 |
Review |
1078 |
Molecular |
Osteosarcoma, somatic |
RB1 |
Review |
1079 |
Molecular |
Thrombocytopenia-absent radius syndrome |
RBM8A |
Review |
1080 |
Molecular |
Baller-Gerold syndrome |
RECQL4 |
Review |
1081 |
Molecular |
RAPADILINO syndrome |
RECQL4 |
Review |
1082 |
Molecular |
Rothmund-Thomson syndrome |
RECQL4 |
Review |
1083 |
Molecular |
?Deafness, autosomal dominant 27 |
REST |
Review |
1084 |
Molecular |
{Wilms tumor 6, susceptibility to} |
REST |
Review |
1085 |
Molecular |
Fibromatosis, gingival, 5 |
REST |
Review |
1086 |
Molecular |
Noonan syndrome 8 |
RIT1 |
Review |
1087 |
Molecular |
Tonne-Kalscheuer syndrome |
RLIM |
Review |
1088 |
Molecular |
Ataxia, sensory, 1, autosomal dominant |
RNF170 |
Review |
1089 |
Molecular |
Brachydactyly, type B1 |
ROR2 |
Review |
1090 |
Molecular |
Robinow syndrome, autosomal recessive |
ROR2 |
Review |
1091 |
Molecular |
|
ROS1 |
Review |
1092 |
Molecular |
Leber congenital amaurosis 2 |
RPE65 |
Review |
1093 |
Molecular |
Retinitis pigmentosa 20 |
RPE65 |
Review |
1094 |
Molecular |
{Autism, susceptibility to, X-linked 5} |
RPL10 |
Review |
1095 |
Molecular |
Mental retardation, X-linked, syndromic, 35 |
RPL10 |
Review |
1096 |
Molecular |
Diamond-Blackfan anemia 6 |
RPL5 |
Review |
1097 |
Molecular |
Diamond-blackfan anemia 3 |
RPS24 |
Review |
1098 |
Molecular |
Retinoschisis |
RS1 |
Review |
1099 |
Molecular |
Spastic paraplegia 12, autosomal dominant |
RTN2 |
Review |
1100 |
Molecular |
Townes-Brocks branchiootorenal-like syndrome |
SALL1 |
Review |
1101 |
Molecular |
Townes-Brocks syndrome 1 |
SALL1 |
Review |
1102 |
Molecular |
IVIC syndrome |
SALL4 |
Review |
1103 |
Molecular |
Duane-radial ray syndrome |
SALL4 |
Review |
1104 |
Molecular |
Shwachman-Diamond syndrome |
SBDS |
Review |
1105 |
Molecular |
{Aplastic anemia, susceptibility to} |
SBDS |
Review |
1106 |
Molecular |
Epilepsy, generalized, with febrile seizures plus, type 1 |
SCN1B |
Review |
1107 |
Molecular |
Brugada syndrome 5 |
SCN1B |
Review |
1108 |
Molecular |
Cardiac conduction defect, nonspecific |
SCN1B |
Review |
1109 |
Molecular |
Atrial fibrillation, familial, 13 |
SCN1B |
Review |
1110 |
Molecular |
Epileptic encephalopathy, early infantile, 52 |
SCN1B |
Review |
1111 |
Molecular |
Seizures, benign familial infantile, 3 |
SCN2A |
Review |
1112 |
Molecular |
Epileptic encephalopathy, early infantile, 11 |
SCN2A |
Review |
1113 |
Molecular |
Paramyotonia congenita |
SCN4A |
Review |
1114 |
Molecular |
Hyperkalemic periodic paralysis, type 2 |
SCN4A |
Review |
1115 |
Molecular |
Myotonia congenita, atypical, acetazolamide-responsive |
SCN4A |
Review |
1116 |
Molecular |
Hypokalemic periodic paralysis, type 2 |
SCN4A |
Review |
1117 |
Molecular |
Myasthenic syndrome, congenital, 16 |
SCN4A |
Review |
1118 |
Molecular |
Polycystic kidney disease 1 |
SCN9A |
Review |
1119 |
Molecular |
Pseudohypoaldosteronism, type I |
SCNN1A |
Review |
1120 |
Molecular |
Bronchiectasis with or without elevated sweat chloride 2 |
SCNN1A |
Review |
1121 |
Molecular |
?Liddle syndrome 3 |
SCNN1A |
Review |
1122 |
Molecular |
Liddle syndrome 1 |
SCNN1B |
Review |
1123 |
Molecular |
Bronchiectasis with or without elevated sweat chloride 1 |
SCNN1B |
Review |
1124 |
Molecular |
Pseudohypoaldosteronism, type I |
SCNN1B |
Review |
1125 |
Molecular |
Pseudohypoaldosteronism, type I |
SCNN1G |
Review |
1126 |
Molecular |
Bronchiectasis with or without elevated sweat chloride 3 |
SCNN1G |
Review |
1127 |
Molecular |
Liddle syndrome 2 |
SCNN1G |
Review |
1128 |
Molecular |
Mitochondrial complex IV deficiency, nuclear type 2 |
SCO2 |
Review |
1129 |
Molecular |
Myopia 6 |
SCO2 |
Review |
1130 |
Molecular |
Paragangliomas 1, with or without deafness |
SDHD |
Review |
1131 |
Molecular |
Pheochromocytoma |
SDHD |
Review |
1132 |
Molecular |
Mitochondrial complex II deficiency |
SDHD |
Review |
1133 |
Molecular |
Paraganglioma and gastric stromal sarcoma |
SDHD |
Review |
1134 |
Molecular |
Angioedema, hereditary, types I and II |
SERPING1 |
Review |
1135 |
Molecular |
Complement component 4, partial deficiency of |
SERPING1 |
Review |
1136 |
Molecular |
Schinzel-Giedion midface retraction syndrome |
SETBP1 |
Review |
1137 |
Molecular |
Mental retardation, autosomal dominant 29 |
SETBP1 |
Review |
1138 |
Molecular |
Amyotrophic lateral sclerosis 4, juvenile |
SETX |
Review |
1139 |
Molecular |
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
SETX |
Review |
1140 |
Molecular |
Myelodysplastic syndrome, somatic |
SF3B1 |
Review |
1141 |
Molecular |
Surfactant metabolism dysfunction, pulmonary, 1 |
SFTPB |
Review |
1142 |
Molecular |
Muscular dystrophy, limb-girdle, autosomal recessive 3 |
SGCA |
Review |
1143 |
Molecular |
Mucopolysaccharidosis type IIIA (Sanfilippo A) |
SGSH |
Review |
1144 |
Molecular |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2b1 Deficiency |
SH2B1 |
Review |
1145 |
Molecular |
Mononeuropathy of the median nerve, mild |
SH3TC2 |
Review |
1146 |
Molecular |
Leri-Weill dyschondrosteosis |
SHOX |
Review |
1147 |
Molecular |
Langer mesomelic dysplasia |
SHOX |
Review |
1148 |
Molecular |
Short stature, idiopathic familial |
SHOX |
Review |
1149 |
Molecular |
Obesity Due To Sim1 Deficiency and Prader-Willi-Like Syndrome Due To A Point Mutation |
SIM1 |
Review |
1150 |
Molecular |
|
SIRT1 |
Review |
1151 |
Molecular |
Bartter syndrome, type 1 |
SLC12A1 |
Review |
1152 |
Molecular |
Gitelman syndrome |
SLC12A3 |
Review |
1153 |
Molecular |
Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) |
SLC19A3 |
Review |
1154 |
Molecular |
Carnitine deficiency, systemic primary |
SLC22A5 |
Review |
1155 |
Molecular |
Citrullinemia, adult-onset type II |
SLC25A13 |
Review |
1156 |
Molecular |
Citrullinemia, type II, neonatal-onset |
SLC25A13 |
Review |
1157 |
Molecular |
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome |
SLC25A15 |
Review |
1158 |
Molecular |
Carnitine-acylcarnitine translocase deficiency |
SLC25A20 |
Review |
1159 |
Molecular |
Diarrhea 1, secretory chloride, congenital |
SLC26A3 |
Review |
1160 |
Molecular |
Pendred syndrome |
SLC26A4 |
Review |
1161 |
Molecular |
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct |
SLC26A4 |
Review |
1162 |
Molecular |
Ichthyosis Prematurity Syndrome and Melkersson-Rosenthal Syndrome |
SLC27A1 |
Review |
1163 |
Molecular |
Histiocytosis-lymphadenopathy plus syndrome |
SLC29A3 |
Review |
1164 |
Molecular |
{Diabetes mellitus, noninsulin-dependent} |
SLC2A2 |
Review |
1165 |
Molecular |
Fanconi-Bickel syndrome |
SLC2A2 |
Review |
1166 |
Molecular |
Glycogen storage disease Ib |
SLC37A4 |
Review |
1167 |
Molecular |
Glycogen storage disease Ic |
SLC37A4 |
Review |
1168 |
Molecular |
Cystinuria |
SLC3A1 |
Review |
1169 |
Molecular |
[Blood group, Diego] |
SLC4A1 |
Review |
1170 |
Molecular |
[Blood group, Waldner] |
SLC4A1 |
Review |
1171 |
Molecular |
[Blood group, Wright] |
SLC4A1 |
Review |
1172 |
Molecular |
Ovalocytosis, SA type |
SLC4A1 |
Review |
1173 |
Molecular |
Renal tubular acidosis, distal, AD |
SLC4A1 |
Review |
1174 |
Molecular |
Cryohydrocytosis |
SLC4A1 |
Review |
1175 |
Molecular |
[Blood group, Swann] |
SLC4A1 |
Review |
1176 |
Molecular |
[Blood group, Froese] |
SLC4A1 |
Review |
1177 |
Molecular |
[Malaria, resistance to] |
SLC4A1 |
Review |
1178 |
Molecular |
Renal tubular acidosis, distal, AR |
SLC4A1 |
Review |
1179 |
Molecular |
Spherocytosis, type 4 |
SLC4A1 |
Review |
1180 |
Molecular |
Glucose+galactose malabsorption |
SLC5A1 |
Review |
1181 |
Molecular |
Hyperekplexia 3 |
SLC6A5 |
Review |
1182 |
Molecular |
Lysinuric protein intolerance |
SLC7A7 |
Review |
1183 |
Molecular |
Cystinuria |
SLC7A9 |
Review |
1184 |
Molecular |
Diarrhea 8, secretory sodium, congenital |
SLC9A3 |
Review |
1185 |
Molecular |
Hypertrophic osteoarthropathy, primary, autosomal recessive 2 |
SLCO2A1 |
Review |
1186 |
Molecular |
Tourette syndrome |
SLITRK1 |
Review |
1187 |
Molecular |
?Trichotillomania |
SLITRK1 |
Review |
1188 |
Molecular |
|
SMARCA1 |
Review |
1189 |
Molecular |
Niemann-Pick disease, type A |
SMPD1 |
Review |
1190 |
Molecular |
Niemann-Pick disease, type B |
SMPD1 |
Review |
1191 |
Molecular |
Amyotrophic lateral sclerosis 1 |
SOD1 |
Review |
1192 |
Molecular |
Spastic tetraplegia and axial hypotonia, progressive |
SOD1 |
Review |
1193 |
Molecular |
?Fibromatosis, gingival, 1 |
SOS1 |
Review |
1194 |
Molecular |
Noonan syndrome 4 |
SOS1 |
Review |
1195 |
Molecular |
Mental retardation, X-linked, with isolated growth hormone deficiency |
SOX3 |
Review |
1196 |
Molecular |
Panhypopituitarism, X-linked |
SOX3 |
Review |
1197 |
Molecular |
Acampomelic campomelic dysplasia |
SOX9 |
Review |
1198 |
Molecular |
Campomelic dysplasia |
SOX9 |
Review |
1199 |
Molecular |
Campomelic dysplasia with autosomal sex reversal |
SOX9 |
Review |
1200 |
Molecular |
Spastic paraplegia 4, autosomal dominant |
SPAST |
Review |
1201 |
Molecular |
Amyotrophic lateral sclerosis 5, juvenile |
SPG11 |
Review |
1202 |
Molecular |
Spastic paraplegia 11, autosomal recessive |
SPG11 |
Review |
1203 |
Molecular |
Charcot-Marie-Tooth disease, axonal, type 2X |
SPG11 |
Review |
1204 |
Molecular |
Pancreatitis, hereditary |
SPINK1 |
Review |
1205 |
Molecular |
{Fibrocalculous pancreatic diabetes, susceptibility to} |
SPINK1 |
Review |
1206 |
Molecular |
Tropical calcific pancreatitis |
SPINK1 |
Review |
1207 |
Molecular |
?Spermatogenic failure 29 |
SPINK2 |
Review |
1208 |
Molecular |
Spinocerebellar ataxia 5 |
SPTBN2 |
Review |
1209 |
Molecular |
Spinocerebellar ataxia, autosomal recessive 14 |
SPTBN2 |
Review |
1210 |
Molecular |
Paget disease of bone 3 |
SQSTM1 |
Review |
1211 |
Molecular |
Frontotemporal dementia and+or amyotrophic lateral sclerosis 3 |
SQSTM1 |
Review |
1212 |
Molecular |
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset |
SQSTM1 |
Review |
1213 |
Molecular |
Myopathy, distal, with rimmed vacuoles |
SQSTM1 |
Review |
1214 |
Molecular |
Hyper-IgE recurrent infection syndrome |
STAT3 |
Review |
1215 |
Molecular |
Autoimmune disease, multisystem, infantile-onset, 1 |
STAT3 |
Review |
1216 |
Molecular |
Microphthalmia, isolated, with coloboma 8 |
STRA6 |
Review |
1217 |
Molecular |
Microphthalmia, syndromic 9 |
STRA6 |
Review |
1218 |
Molecular |
Hemophagocytic lymphohistiocytosis, familial, 4 |
STX11 |
Review |
1219 |
Molecular |
Pseudohypoparathyroidism, type IB |
STX16 |
Review |
1220 |
Molecular |
Diarrhea 12, with microvillus atrophy |
STX3 |
Review |
1221 |
Molecular |
Retinal dystrophy and microvillus inclusion disease |
STX3 |
Review |
1222 |
Molecular |
Epileptic encephalopathy, early infantile, 4 |
STXBP1 |
Review |
1223 |
Molecular |
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
SUCLA2 |
Review |
1224 |
Molecular |
Sulfite oxidase deficiency |
SUOX |
Review |
1225 |
Molecular |
Hypogonadotropic hypogonadism 10 with or without anosmia |
TAC3 |
Review |
1226 |
Molecular |
Warburg Micro Syndrome 1 |
TBC1D1 |
Review |
1227 |
Molecular |
Warburg micro syndrome 4 |
TBC1D20 |
Review |
1228 |
Molecular |
Hypoparathyroidism-retardation-dysmorphism syndrome |
TBCE |
Review |
1229 |
Molecular |
Kenny-Caffey syndrome, type 1 |
TBCE |
Review |
1230 |
Molecular |
Encephalopathy, progressive, with amyotrophy and optic atrophy |
TBCE |
Review |
1231 |
Molecular |
{Parkinson disease, susceptibility to} |
TBP |
Review |
1232 |
Molecular |
Spinocerebellar ataxia 17 |
TBP |
Review |
1233 |
Molecular |
Tetralogy of Fallot |
TBX1 |
Review |
1234 |
Molecular |
DiGeorge syndrome |
TBX1 |
Review |
1235 |
Molecular |
Velocardiofacial syndrome |
TBX1 |
Review |
1236 |
Molecular |
Conotruncal anomaly face syndrome |
TBX1 |
Review |
1237 |
Molecular |
Holt-Oram syndrome |
TBX5 |
Review |
1238 |
Molecular |
Treacher Collins syndrome 1 |
TCOF1 |
Review |
1239 |
Molecular |
{Leukemia, acute myeloid} |
TERT |
Review |
1240 |
Molecular |
{Dyskeratosis congenita, autosomal dominant 2} |
TERT |
Review |
1241 |
Molecular |
{Dyskeratosis congenita, autosomal recessive 4} |
TERT |
Review |
1242 |
Molecular |
{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1} |
TERT |
Review |
1243 |
Molecular |
{Melanoma, cutaneous malignant, 9} |
TERT |
Review |
1244 |
Molecular |
Esophageal cancer, somatic |
TGFBR2 |
Review |
1245 |
Molecular |
Loeys-Dietz syndrome 2 |
TGFBR2 |
Review |
1246 |
Molecular |
Colorectal cancer, hereditary nonpolyposis, type 6 |
TGFBR2 |
Review |
1247 |
Molecular |
Ichthyosis, congenital, autosomal recessive 1 |
TGM1 |
Review |
1248 |
Molecular |
Segawa syndrome, recessive |
TH |
Review |
1249 |
Molecular |
Thrombocythemia 1 |
THPO |
Review |
1250 |
Molecular |
Hypothyroidism, congenital, nongoitrous, 6 |
THRA |
Review |
1251 |
Molecular |
{HIV1 infection, resistance to} |
TLR3 |
Review |
1252 |
Molecular |
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2} |
TLR3 |
Review |
1253 |
Molecular |
Immunodeficiency 74, COVID19-related, X-linked |
TLR7 |
Review |
1254 |
Molecular |
|
TLR8 |
Review |
1255 |
Molecular |
Epidermodysplasia verruciformis |
TMC6 |
Review |
1256 |
Molecular |
{Pheochromocytoma, susceptibility to} |
TMEM127 |
Review |
1257 |
Molecular |
COACH syndrome 1 |
TMEM67 |
Review |
1258 |
Molecular |
?RHYNS syndrome |
TMEM67 |
Review |
1259 |
Molecular |
Meckel syndrome 3 |
TMEM67 |
Review |
1260 |
Molecular |
Joubert syndrome 6 |
TMEM67 |
Review |
1261 |
Molecular |
Nephronophthisis 11 |
TMEM67 |
Review |
1262 |
Molecular |
{Bardet-Biedl syndrome 14, modifier of} |
TMEM67 |
Review |
1263 |
Molecular |
Iron-refractory iron deficiency anemia |
TMPRSS6 |
Review |
1264 |
Molecular |
Autoinflammatory syndrome, familial, Behcet-like |
TNFAIP3 |
Review |
1265 |
Molecular |
Immunodeficiency, common variable, 2 |
TNFRSF13B |
Review |
1266 |
Molecular |
Immunoglobulin A deficiency 2 |
TNFRSF13B |
Review |
1267 |
Molecular |
Periodic fever, familial |
TNFRSF1A |
Review |
1268 |
Molecular |
CAP myopathy 1 |
TNFRSF1A |
Review |
1269 |
Molecular |
{Multiple sclerosis, susceptibility to, 5} |
TNFRSF1A |
Review |
1270 |
Molecular |
Dystonia-1, torsion |
TOR1A |
Review |
1271 |
Molecular |
{Dystonia-1, modifier of} |
TOR1A |
Review |
1272 |
Molecular |
ADULT syndrome |
TP63 |
Review |
1273 |
Molecular |
Hay-Wells syndrome |
TP63 |
Review |
1274 |
Molecular |
Rapp-Hodgkin syndrome |
TP63 |
Review |
1275 |
Molecular |
Limb-mammary syndrome |
TP63 |
Review |
1276 |
Molecular |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 |
TP63 |
Review |
1277 |
Molecular |
Split-hand/foot malformation 4 |
TP63 |
Review |
1278 |
Molecular |
Orofacial cleft 8 |
TP63 |
Review |
1279 |
Molecular |
Myopathy, congenital, with fiber-type disproportion |
TPM3 |
Review |
1280 |
Molecular |
Nemaline myopathy 1, autosomal dominant or recessive |
TPM3 |
Review |
1281 |
Molecular |
{Thiopurines, poor metabolism of, 1} |
TPMT |
Review |
1282 |
Molecular |
Ceroid lipofuscinosis, neuronal, 2 |
TPP1 |
Review |
1283 |
Molecular |
Spinocerebellar ataxia, autosomal recessive 7 |
TPP1 |
Review |
1284 |
Molecular |
Spondyloepiphyseal dysplasia tarda |
TRAPPC2 |
Review |
1285 |
Molecular |
Systemic lupus erythematosus, susceptibility to} |
TREX1 |
Review |
1286 |
Molecular |
Vasculopathy, retinal, with cerebral leukodystrophy |
TREX1 |
Review |
1287 |
Molecular |
Aicardi-Goutieres syndrome 1, dominant and recessive |
TREX1 |
Review |
1288 |
Molecular |
Chilblain lupus |
TREX1 |
Review |
1289 |
Molecular |
?Anencephaly 1 |
TRIM36 |
Review |
1290 |
Molecular |
{Deafness, mitochondrial, modifier of} |
TRMU |
Review |
1291 |
Molecular |
Liver failure, transient infantile |
TRMU |
Review |
1292 |
Molecular |
Trichorhinophalangeal syndrome, type I |
TRPS1 |
Review |
1293 |
Molecular |
Trichorhinophalangeal syndrome, type III |
TRPS1 |
Review |
1294 |
Molecular |
Pontocerebellar hypoplasia type 4 |
TSEN54 |
Review |
1295 |
Molecular |
Pontocerebellar hypoplasia type 2A |
TSEN54 |
Review |
1296 |
Molecular |
Pontocerebellar hypoplasia type 5 |
TSEN54 |
Review |
1297 |
Molecular |
Hypothyroidism, congenital, nongoitrous, 1 |
TSHR |
Review |
1298 |
Molecular |
Hyperthyroidism, familial gestational |
TSHR |
Review |
1299 |
Molecular |
Hyperthyroidism, nonautoimmune |
TSHR |
Review |
1300 |
Molecular |
Thyroid adenoma, hyperfunctioning, somatic |
TSHR |
Review |
1301 |
Molecular |
Thyroid carcinoma with thyrotoxicosis |
TSHR |
Review |
1302 |
Molecular |
Amyloidosis, hereditary, transthyretin-related |
TTR |
Review |
1303 |
Molecular |
Carpal tunnel syndrome, familial |
TTR |
Review |
1304 |
Molecular |
[Dystransthyretinemic hyperthyroxinemia] |
TTR |
Review |
1305 |
Molecular |
Cortical dysplasia, complex, with other brain malformations 7 |
TUBB2B |
Review |
1306 |
Molecular |
Fibrosis of extraocular muscles, congenital, 3A |
TUBB3 |
Review |
1307 |
Molecular |
Cortical dysplasia, complex, with other brain malformations 1 |
TUBB3 |
Review |
1308 |
Molecular |
Oocyte maturation defect 2 |
TUBB8 |
Review |
1309 |
Molecular |
Saethre-Chotzen syndrome with or without eyelid anomalies |
TWIST1 |
Review |
1310 |
Molecular |
Craniosynostosis 1 |
TWIST1 |
Review |
1311 |
Molecular |
Robinow-Sorauf syndrome |
TWIST1 |
Review |
1312 |
Molecular |
Sweeney-Cox syndrome |
TWIST1 |
Review |
1313 |
Molecular |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
TYMP |
Review |
1314 |
Molecular |
Angelman syndrome |
UBE3A |
Review |
1315 |
Molecular |
Kaufman oculocerebrofacial syndrome |
UBE3B |
Review |
1316 |
Molecular |
Corneal dystrophy, Schnyder type |
UBIAD1 |
Review |
1317 |
Molecular |
Johanson-Blizzard syndrome |
UBR1 |
Review |
1318 |
Molecular |
[Gilbert syndrome] |
UGT1A1 |
Review |
1319 |
Molecular |
Crigler-Najjar syndrome, type I |
UGT1A1 |
Review |
1320 |
Molecular |
Hyperbilirubinemia, familial transient neonatal |
UGT1A1 |
Review |
1321 |
Molecular |
[Bilirubin, serum level of, QTL1] |
UGT1A1 |
Review |
1322 |
Molecular |
Crigler-Najjar syndrome, type II |
UGT1A1 |
Review |
1323 |
Molecular |
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1} |
UNC93B1 |
Review |
1324 |
Molecular |
{Neural tube defects, susceptibility to} |
VANGL1 |
Review |
1325 |
Molecular |
Caudal regression syndrome |
VANGL1 |
Review |
1326 |
Molecular |
?Osteoporosis, involutional |
VDR |
Review |
1327 |
Molecular |
Rickets, vitamin D-resistant, type IIA |
VDR |
Review |
1328 |
Molecular |
Warfarin resistance |
VKORC1 |
Review |
1329 |
Molecular |
Vitamin K-dependent clotting factors, combined deficiency of, 2 |
VKORC1 |
Review |
1330 |
Molecular |
von Willebrand disease, type 1 |
VWF |
Review |
1331 |
Molecular |
von Willibrand disease, type 3 |
VWF |
Review |
1332 |
Molecular |
von Willebrand disease, types 2A, 2B, 2M, and 2N |
VWF |
Review |
1333 |
Molecular |
Neutropenia, severe congenital, X-linked |
WAS |
Review |
1334 |
Molecular |
Wiskott-Aldrich syndrome |
WAS |
Review |
1335 |
Molecular |
Thrombocytopenia, X-linked |
WAS |
Review |
1336 |
Molecular |
Thrombocytopenia, X-linked, intermittent |
WAS |
Review |
1337 |
Molecular |
Ritscher-Schinzel syndrome 1 |
WASHC5 |
Review |
1338 |
Molecular |
Spastic paraplegia 8, autosomal dominant |
WASHC5 |
Review |
1339 |
Molecular |
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations |
WDR62 |
Review |
1340 |
Molecular |
Galloway-Mowat syndrome 1 |
WDR73 |
Review |
1341 |
Molecular |
?Cataract 41 |
WFS1 |
Review |
1342 |
Molecular |
{Diabetes mellitus, noninsulin-dependent, association with} |
WFS1 |
Review |
1343 |
Molecular |
Wolfram syndrome 1 |
WFS1 |
Review |
1344 |
Molecular |
Deafness, autosomal dominant 6+14+38 |
WFS1 |
Review |
1345 |
Molecular |
Wolfram-like syndrome, autosomal dominant |
WFS1 |
Review |
1346 |
Molecular |
Arthropathy, progressive pseudorheumatoid, of childhood |
WISP3 |
Review |
1347 |
Molecular |
Spondyloepiphyseal dysplasia tarda with progressive arthropathy |
WISP3 |
Review |
1348 |
Molecular |
Tooth agenesis, selective, 4 |
WNT10A |
Review |
1349 |
Molecular |
Schopf-Schulz-Passarge syndrome |
WNT10A |
Review |
1350 |
Molecular |
Odontoonychodermal dysplasia |
WNT10A |
Review |
1351 |
Molecular |
?Tetra-amelia syndrome 1 |
WNT3 |
Review |
1352 |
Molecular |
Mullerian aplasia and hyperandrogenism |
WNT4 |
Review |
1353 |
Molecular |
?SERKAL syndrome |
WNT4 |
Review |
1354 |
Molecular |
Fuhrmann syndrome |
WNT7A |
Review |
1355 |
Molecular |
Ulna and fibula, absence of, with severe limb deficiency |
WNT7A |
Review |
1356 |
Molecular |
Werner syndrome |
WRN |
Review |
1357 |
Molecular |
Xanthinuria, type I |
XDH |
Review |
1358 |
Molecular |
Lymphoproliferative syndrome, X-linked, 2 |
XIAP |
Review |
1359 |
Molecular |
Xeroderma pigmentosum, group C |
XPC |
Review |
1360 |
Molecular |
Grange syndrome |
YY1AP1 |
Review |
1361 |
Molecular |
Mowat-Wilson syndrome |
ZEB2 |
Review |
1362 |
Molecular |
Klinik Ekzom Dizileme (CES) |
|
Review |
1363 |
Molecular |
Ekzom Sekanslama (WES) |
|
Review |
1364 |
Molecular |
Pseudovaginal perineoscrotal hypospadias |
SRD5A2 |
Review |
1365 |
Molecular |
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency |
CYP21A2 |
Review |
1366 |
Molecular |
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency |
CYP21A2 |
Review |
1367 |
Molecular |
Congenital heart defects and skeletal malformations syndrome |
ABL1 |
Review |
1368 |
Molecular |
Leukemia, Philadelphia chromosome-positive, resistant to imatinib |
ABL1 |
Review |
1369 |
Molecular |
Colorectal cancer, somatic |
APC |
Review |
1370 |
Molecular |
Hepatoblastoma, somatic |
APC |
Review |
1371 |
Molecular |
Desmoid disease, hereditary |
APC |
Review |
1372 |
Molecular |
Adenomatous polyposis coli |
APC |
Review |
1373 |
Molecular |
Brain tumor-polyposis syndrome 2 |
APC |
Review |
1374 |
Molecular |
Gardner syndrome |
APC |
Review |
1375 |
Molecular |
Hyperferritinemia-cataract syndrome |
APC |
Review |
1376 |
Molecular |
Gastric cancer, somatic |
APC |
Review |
1377 |
Molecular |
Adenoma, periampullary, somatic |
APC |
Review |
1378 |
Molecular |
{Breast cancer, male, susceptibility to} |
BRCA1-BRCA2 |
Review |
1379 |
Molecular |
{Medulloblastoma} |
BRCA1-BRCA2 |
Review |
1380 |
Molecular |
{Prostate cancer} |
BRCA1-BRCA2 |
Review |
1381 |
Molecular |
Wilms tumor |
BRCA1-BRCA2 |
Review |
1382 |
Molecular |
{Breast-ovarian cancer, familial, 1} |
BRCA1-BRCA2 |
Review |
1383 |
Molecular |
Fanconi anemia, complementation group D1 |
BRCA1-BRCA2 |
Review |
1384 |
Molecular |
{Breast-ovarian cancer, familial, 2} |
BRCA1-BRCA2 |
Review |
1385 |
Molecular |
{Glioblastoma 3} |
BRCA1-BRCA2 |
Review |
1386 |
Molecular |
{Pancreatic cancer 2} |
BRCA1-BRCA2 |
Review |
1387 |
Molecular |
{Pancreatic cancer, susceptibility to, 4} |
BRCA1-BRCA2 |
Review |
1388 |
Molecular |
Fanconi anemia, complementation group S |
BRCA1-BRCA2 |
Review |
1389 |
Molecular |
{Pulmonary disease, chronic obstructive, susceptibility to} |
SERPINA1 |
Review |
1390 |
Molecular |
Emphysema due to AAT deficiency |
SERPINA1 |
Review |
1391 |
Molecular |
Emphysema-cirrhosis, due to AAT deficiency |
SERPINA1 |
Review |
1392 |
Molecular |
Hemorrhagic diathesis due to antithrombin Pittsburgh |
SERPINA1 |
Review |
1393 |
Molecular |
ANKİLOZAN SPONDİLİT |
HLA B27 |
Review |
1394 |
Molecular |
Ataxia-telangiectasia |
ATM |
Review |
1395 |
Molecular |
{Breast cancer, susceptibility to} |
ATM |
Review |
1396 |
Molecular |
Lymphoma, B-cell non-Hodgkin, somatic |
ATM |
Review |
1397 |
Molecular |
Lymphoma, mantle cell, somatic |
ATM |
Review |
1398 |
Molecular |
T-cell prolymphocytic leukemia, somatic |
ATM |
Review |
1399 |
Molecular |
Heinz body anemia |
HBB |
Review |
1400 |
Molecular |
Delta-beta thalassemia |
HBB |
Review |
1401 |
Molecular |
Hereditary persistence of fetal hemoglobin |
HBB |
Review |
1402 |
Molecular |
Thalassemia-beta, dominant inclusion-body |
HBB |
Review |
1403 |
Molecular |
Sickle cell anemia |
HBB |
Review |
1404 |
Molecular |
{Malaria, resistance to} |
HBB |
Review |
1405 |
Molecular |
Thalassemia, beta |
HBB |
Review |
1406 |
Molecular |
Methmoglobinemia, beta type |
HBB |
Review |
1407 |
Molecular |
Erythrocytosis 6 |
HBB |
Review |
1408 |
Molecular |
Biotinidase deficiency |
BTD |
Review |
1409 |
Molecular |
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 |
NOTCH3 |
Review |
1410 |
Molecular |
Lateral meningocele syndrome |
NOTCH3 |
Review |
1411 |
Molecular |
?Myofibromatosis, infantile 2 |
NOTCH3 |
Review |
1412 |
Molecular |
CALR Mutasyonu (Ekzon 9) |
CALR (EKZON9) |
Review |
1413 |
Molecular |
CALR Mutasyonu (Ekzon 9) |
CALR (EKZON9) |
Review |
1414 |
Molecular |
Charcot-Marie-Tooth disease, type 2B1-2A1 |
LMNA - KIF1B |
Review |
1415 |
Molecular |
Charcot-Marie-Tooth disease, axonal, type 2EE-2V |
MPV17 - NAGLU |
Review |
1416 |
Molecular |
Charcot-Marie-Tooth disease, type 1A-1B-1E-2I-2J |
PMP22 - MPZ |
Review |
1417 |
Molecular |
Charcot-Marie-Tooth disease, type 4C-4J |
SH3TC2 - FIG4 |
Review |
1418 |
Molecular |
ÇÖLYAK |
HLADQ2, HLADQ8, HLADR4 |
Review |
1419 |
Molecular |
Diabetes insipidus, neurohypophyseal |
AVP |
Review |
1420 |
Molecular |
5-fluorouracil toxicity |
DPYD |
Review |
1421 |
Molecular |
Dihydropyrimidine dehydrogenase deficiency |
DPYD |
Review |
1422 |
Molecular |
Epilepsy, generalized, with febrile seizures plus, type 2 |
SCN1A |
Review |
1423 |
Molecular |
Febrile seizures, familial, 3A |
SCN1A |
Review |
1424 |
Molecular |
Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) |
SCN1A |
Review |
1425 |
Molecular |
Migraine, familial hemiplegic, 3 |
SCN1A |
Review |
1426 |
Molecular |
Becker muscular dystrophy |
DMD |
Review |
1427 |
Molecular |
Cardiomyopathy, dilated, 3B |
DMD |
Review |
1428 |
Molecular |
Duchenne muscular dystrophy |
DMD |
Review |
1429 |
Molecular |
Fabry disease |
GLA |
Review |
1430 |
Molecular |
Fabry disease, cardiac variant |
GLA |
Review |
1431 |
Molecular |
[Hyperphenylalaninemia, non-PKU mild] |
PAH |
Review |
1432 |
Molecular |
Phenylketonuria |
PAH |
Review |
1433 |
Molecular |
Apert syndrome |
FGFR2 |
Review |
1434 |
Molecular |
Saethre-Chotzen syndrome |
FGFR2 |
Review |
1435 |
Molecular |
Craniofacial-skeletal-dermatologic dysplasia |
FGFR2 |
Review |
1436 |
Molecular |
Pfeiffer syndrome |
FGFR2 |
Review |
1437 |
Molecular |
Jackson-Weiss syndrome |
FGFR2 |
Review |
1438 |
Molecular |
Crouzon syndrome |
FGFR2 |
Review |
1439 |
Molecular |
Beare-Stevenson cutis gyrata syndrome |
FGFR2 |
Review |
1440 |
Molecular |
LADD syndrome |
FGFR2 |
Review |
1441 |
Molecular |
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
FGFR2 |
Review |
1442 |
Molecular |
Scaphocephaly, maxillary retrusion, and mental retardation |
FGFR2 |
Review |
1443 |
Molecular |
Gastric cancer, somatic |
FGFR2 |
Review |
1444 |
Molecular |
Bent bone dysplasia syndrome |
FGFR2 |
Review |
1445 |
Molecular |
Craniosynostosis, nonspecific |
FGFR2 |
Review |
1446 |
Molecular |
Scaphocephaly and Axenfeld-Rieger anomaly |
FGFR2 |
Review |
1447 |
Molecular |
Achondroplasia |
FGFR3 |
Review |
1448 |
Molecular |
Bladder cancer, somatic |
FGFR3 |
Review |
1449 |
Molecular |
Colorectal cancer, somatic |
FGFR3 |
Review |
1450 |
Molecular |
Hypochondroplasia |
FGFR3 |
Review |
1451 |
Molecular |
LADD syndrome |
FGFR3 |
Review |
1452 |
Molecular |
Nevus, epidermal, somatic |
FGFR3 |
Review |
1453 |
Molecular |
Thanatophoric dysplasia, type I |
FGFR3 |
Review |
1454 |
Molecular |
Thanatophoric dysplasia, type II |
FGFR3 |
Review |
1455 |
Molecular |
Spermatocytic seminoma, somatic |
FGFR3 |
Review |
1456 |
Molecular |
Muenke syndrome |
FGFR3 |
Review |
1457 |
Molecular |
Cervical cancer, somatic |
FGFR3 |
Review |
1458 |
Molecular |
CATSHL syndrome |
FGFR3 |
Review |
1459 |
Molecular |
Crouzon syndrome with acanthosis nigricans |
FGFR3 |
Review |
1460 |
Molecular |
SADDAN |
FGFR3 |
Review |
1461 |
Molecular |
|
FLT3 d835/ITD (TKD/ITD) Mutasyon Analizi |
Review |
1462 |
Molecular |
|
FLT3 d835/ITD (TKD/ITD) Mutasyon Yükü Analizi |
Review |
1463 |
Molecular |
FMF (Ailesel Akdeniz Ateşi) Sık Görülen (5 Mutasyon) |
E148Q, M694V, M680I, V726A, R761H |
Review |
1464 |
Molecular |
*FMF Hastalığı (MEFV geni Dizi Analizi) |
MEFV |
Review |
1465 |
Molecular |
FRAJİL-X SENDROMU |
FMR1 GENİ CGG TEKRAR SAYISI |
Review |
1466 |
Molecular |
FRAJİL-X SENDROMU |
FMR1 GENİ CGG TEKRAR SAYISI |
Review |
1467 |
Molecular |
Friedreich ataxia |
FXN |
Review |
1468 |
Molecular |
Friedreich ataxia with retained reflexes |
FXN |
Review |
1469 |
Molecular |
Hemolytic anemia, G6PD deficient (favism) |
G6PD |
Review |
1470 |
Molecular |
{Resistance to malaria due to G6PD deficiency} |
G6PD |
Review |
1471 |
Molecular |
Dystonia 9 |
SLC2A1 |
Review |
1472 |
Molecular |
GLUT1 deficiency syndrome 1, infantile onset, severe |
SLC2A1 |
Review |
1473 |
Molecular |
Stomatin-deficient cryohydrocytosis with neurologic defects |
SLC2A1 |
Review |
1474 |
Molecular |
GLUT1 deficiency syndrome 2, childhood onset |
SLC2A1 |
Review |
1475 |
Molecular |
{Epilepsy, idiopathic generalized, susceptibility to, 12} |
SLC2A1 |
Review |
1476 |
Molecular |
{Alzheimer disease, susceptibility to} |
HFE |
Review |
1477 |
Molecular |
{Porphyria cutanea tarda, susceptibility to} |
HFE |
Review |
1478 |
Molecular |
{Porphyria variegata, susceptibility to} |
HFE |
Review |
1479 |
Molecular |
Hemochromatosis |
HFE |
Review |
1480 |
Molecular |
{Microvascular complications of diabetes 7} |
HFE |
Review |
1481 |
Molecular |
[Transferrin serum level QTL2] |
HFE |
Review |
1482 |
Molecular |
Hemophilia A |
F8 |
Review |
1483 |
Molecular |
Basal laminar drusen |
CFH |
Review |
1484 |
Molecular |
{Hemolytic uremic syndrome, atypical, susceptibility to, 1} |
CFH |
Review |
1485 |
Molecular |
Complement factor H deficiency |
CFH |
Review |
1486 |
Molecular |
{Macular degeneration, age-related, 4} |
CFH |
Review |
1487 |
Molecular |
Huntington Hastalığı (HTT geni CAG Üçlü Tekrar Sayısı Analizi) |
HTT |
Review |
1488 |
Molecular |
JAK2 Ekzon 12 |
JAK2 |
Review |
1489 |
Molecular |
JAK2 Mutasyonu (V617F) |
JAK2 |
Review |
1490 |
Molecular |
{Pancreatitis, hereditary} |
CFTR |
Review |
1491 |
Molecular |
{Bronchiectasis with or without elevated sweat chloride 1, modifier of} |
CFTR |
Review |
1492 |
Molecular |
Cystic fibrosis |
CFTR |
Review |
1493 |
Molecular |
Congenital bilateral absence of vas deferens |
CFTR |
Review |
1494 |
Molecular |
{Hypertrypsinemia, neonatal} |
CFTR |
Review |
1495 |
Molecular |
Sweat chloride elevation without CF |
CFTR |
Review |
1496 |
Molecular |
Myelofibrosis with myeloid metaplasia, somatic |
MPL |
Review |
1497 |
Molecular |
Thrombocythemia 2 |
MPL |
Review |
1498 |
Molecular |
Thrombocytopenia, congenital amegakaryocytic |
MPL |
Review |
1499 |
Molecular |
Breast cancer, somatic |
TP53 |
Review |
1500 |
Molecular |
{Colorectal cancer} |
TP53 |
Review |
1501 |
Molecular |
Hepatocellular carcinoma, somatic |
TP53 |
Review |
1502 |
Molecular |
{Glioma susceptibility 1} |
TP53 |
Review |
1503 |
Molecular |
Li-Fraumeni syndrome |
TP53 |
Review |
1504 |
Molecular |
{Adrenocortical carcinoma, pediatric} |
TP53 |
Review |
1505 |
Molecular |
{Osteosarcoma} |
TP53 |
Review |
1506 |
Molecular |
Pancreatic cancer, somatic |
TP53 |
Review |
1507 |
Molecular |
{Choroid plexus papilloma} |
TP53 |
Review |
1508 |
Molecular |
Nasopharyngeal carcinoma, somatic |
TP53 |
Review |
1509 |
Molecular |
{Basal cell carcinoma 7} |
TP53 |
Review |
1510 |
Molecular |
Bone marrow failure syndrome 5 |
TP53 |
Review |
1511 |
Molecular |
Acromicric dysplasia |
FBN1 |
Review |
1512 |
Molecular |
Ectopia lentis, familial |
FBN1 |
Review |
1513 |
Molecular |
Marfan syndrome |
FBN1 |
Review |
1514 |
Molecular |
Stiff skin syndrome |
FBN1 |
Review |
1515 |
Molecular |
MASS syndrome |
FBN1 |
Review |
1516 |
Molecular |
Weill-Marchesani syndrome 2, dominant |
FBN1 |
Review |
1517 |
Molecular |
Geleophysic dysplasia 2 |
FBN1 |
Review |
1518 |
Molecular |
Marfan lipodystrophy syndrome |
FBN1 |
Review |
1519 |
Molecular |
Maternal kontaminasyon Testi (STR Analizi) |
Maternal kontaminasyon Testi (STR Analizi) |
Review |
1520 |
Molecular |
Multiple endocrine neoplasia 1 |
MEN1 |
Review |
1521 |
Molecular |
Adrenal adenoma, somatic |
MEN1 |
Review |
1522 |
Molecular |
Angiofibroma, somatic |
MEN1 |
Review |
1523 |
Molecular |
Carcinoid tumor of lung |
MEN1 |
Review |
1524 |
Molecular |
Lipoma, somatic |
MEN1 |
Review |
1525 |
Molecular |
Parathyroid adenoma, somatic |
MEN1 |
Review |
1526 |
Molecular |
Metachromatic leukodystrophy |
ARSA |
Review |
1527 |
Molecular |
Mikroarray |
|
Review |
1528 |
Molecular |
t(9;22) (q34;q11.2) (Philadelphia krom.) p210 (PCR) |
|
Review |
1529 |
Molecular |
t(9;22) (q34;q11.2) (Philadelphia krom.) p190 (PCR) |
|
Review |
1530 |
Molecular |
t(15;17) (q22;q21) (PML/RARA) (PCR) |
|
Review |
1531 |
Molecular |
Mucopolysaccharidosis Ih |
IDUA |
Review |
1532 |
Molecular |
Mucopolysaccharidosis Ih/s |
IDUA |
Review |
1533 |
Molecular |
Mucopolysaccharidosis Is |
IDUA |
Review |
1534 |
Molecular |
Mucopolysaccharidosis type VI (Maroteaux-Lamy) |
ARSB |
Review |
1535 |
Molecular |
Myotonia congenita, recessive |
CLCN1 |
Review |
1536 |
Molecular |
Myotonia congenita, dominant |
CLCN1 |
Review |
1537 |
Molecular |
Myotonia levior, recessive |
CLCN1 |
Review |
1538 |
Molecular |
LEOPARD syndrome 1 |
PTPN11 |
Review |
1539 |
Molecular |
Metachondromatosis |
PTPN11 |
Review |
1540 |
Molecular |
Noonan syndrome 1 |
PTPN11 |
Review |
1541 |
Molecular |
Leukemia, juvenile myelomonocytic, somatic |
PTPN11 |
Review |
1542 |
Molecular |
Neurofibromatosis, type 1 |
NF1 |
Review |
1543 |
Molecular |
Neurofibromatosis, familial spinal |
NF1 |
Review |
1544 |
Molecular |
Watson syndrome |
NF1 |
Review |
1545 |
Molecular |
Neurofibromatosis-Noonan syndrome |
NF1 |
Review |
1546 |
Molecular |
Leukemia, juvenile myelomonocytic |
NF1 |
Review |
1547 |
Molecular |
Neurofibromatosis, type 2 |
NF2 |
Review |
1548 |
Molecular |
Schwannomatosis, somatic |
NF2 |
Review |
1549 |
Molecular |
Meningioma, NF2-related, somatic |
NF2 |
Review |
1550 |
Molecular |
Leukemia, acute myeloid, somatic |
NPM1 |
Review |
1551 |
Molecular |
Waardenburg syndrome+albinism, digenic |
TYR |
Review |
1552 |
Molecular |
Albinism, oculocutaneous, type IA |
TYR |
Review |
1553 |
Molecular |
[Skin+hair+eye pigmentation 3, blue+green eyes] |
TYR |
Review |
1554 |
Molecular |
[Skin+hair+eye pigmentation 3, light+dark+freckling skin] |
TYR |
Review |
1555 |
Molecular |
{Melanoma, cutaneous malignant, susceptibility to, 8} |
TYR |
Review |
1556 |
Molecular |
Albinism, oculocutaneous, type IB |
TYR |
Review |
1557 |
Molecular |
Caffey disease |
COL1A1-COL1A2 |
Review |
1558 |
Molecular |
Ehlers-Danlos syndrome, arthrochalasia type, 1 |
COL1A1-COL1A2 |
Review |
1559 |
Molecular |
Osteogenesis imperfecta, type I |
COL1A1-COL1A2 |
Review |
1560 |
Molecular |
Osteogenesis imperfecta, type II |
COL1A1-COL1A2 |
Review |
1561 |
Molecular |
Osteogenesis imperfecta, type II |
COL1A1-COL1A2 |
Review |
1562 |
Molecular |
Osteogenesis imperfecta, type IV |
COL1A1-COL1A2 |
Review |
1563 |
Molecular |
Osteogenesis imperfecta, type IV |
COL1A1-COL1A2 |
Review |
1564 |
Molecular |
{Bone mineral density variation QTL, osteoporosis} |
COL1A1-COL1A2 |
Review |
1565 |
Molecular |
{Osteoporosis, postmenopausal} |
COL1A1-COL1A2 |
Review |
1566 |
Molecular |
Ehlers-Danlos syndrome, cardiac valvular type |
COL1A1-COL1A2 |
Review |
1567 |
Molecular |
Osteogenesis imperfecta, type III |
COL1A1-COL1A2 |
Review |
1568 |
Molecular |
Osteogenesis imperfecta, type III |
COL1A1-COL1A2 |
Review |
1569 |
Molecular |
Ehlers-Danlos syndrome, arthrochalasia type, 2 |
COL1A1-COL1A2 |
Review |
1570 |
Molecular |
Neutropenia, severe congenital 3, autosomal recessive |
HAX1 |
Review |
1571 |
Molecular |
Melanoma, malignant, somatic |
STK11 |
Review |
1572 |
Molecular |
Peutz-Jeghers syndrome |
STK11 |
Review |
1573 |
Molecular |
Pancreatic cancer, somatic |
STK11 |
Review |
1574 |
Molecular |
Testicular tumor, somatic |
STK11 |
Review |
1575 |
Molecular |
Cowden syndrome 1 |
PTEN |
Review |
1576 |
Molecular |
Lhermitte-Duclos syndrome |
PTEN |
Review |
1577 |
Molecular |
Prostate cancer, somatic |
PTEN |
Review |
1578 |
Molecular |
Macrocephaly+autism syndrome |
PTEN |
Review |
1579 |
Molecular |
{Meningioma} |
PTEN |
Review |
1580 |
Molecular |
{Glioma susceptibility 2} |
PTEN |
Review |
1581 |
Molecular |
QF-PCR Anoploidi Taraması |
|
Review |
1582 |
Molecular |
{Hirschsprung disease, protection against} |
RET |
Review |
1583 |
Molecular |
{Hirschsprung disease, protection against} |
RET |
Review |
1584 |
Molecular |
{Hirschsprung disease, susceptibility to, 1} |
RET |
Review |
1585 |
Molecular |
{Hirschsprung disease, susceptibility to, 1} |
RET |
Review |
1586 |
Molecular |
Medullary thyroid carcinoma |
RET |
Review |
1587 |
Molecular |
Medullary thyroid carcinoma |
RET |
Review |
1588 |
Molecular |
Multiple endocrine neoplasia IIB |
RET |
Review |
1589 |
Molecular |
Multiple endocrine neoplasia IIB |
RET |
Review |
1590 |
Molecular |
Pheochromocytoma |
RET |
Review |
1591 |
Molecular |
Pheochromocytoma |
RET |
Review |
1592 |
Molecular |
Multiple endocrine neoplasia IIA |
RET |
Review |
1593 |
Molecular |
Multiple endocrine neoplasia IIA |
RET |
Review |
1594 |
Molecular |
Central hypoventilation syndrome, congenital |
RET |
Review |
1595 |
Molecular |
Mental retardation, X-linked, syndromic 13 |
MECP2 |
Review |
1596 |
Molecular |
Mental retardation, X-linked syndromic, Lubs type |
MECP2 |
Review |
1597 |
Molecular |
{Autism susceptibility, X-linked 3} |
MECP2 |
Review |
1598 |
Molecular |
Encephalopathy, neonatal severe |
MECP2 |
Review |
1599 |
Molecular |
Rett syndrome |
MECP2 |
Review |
1600 |
Molecular |
Rett syndrome, atypical |
MECP2 |
Review |
1601 |
Molecular |
Rett syndrome, preserved speech variant |
MECP2 |
Review |
1602 |
Molecular |
[Hex A pseudodeficiency] |
HEXA |
Review |
1603 |
Molecular |
GM2-gangliosidosis, several forms |
HEXA |
Review |
1604 |
Molecular |
Tay-Sachs disease |
HEXA |
Review |
1605 |
Molecular |
Thyroid hormone resistance, selective pituitary |
THRB |
Review |
1606 |
Molecular |
Thyroid hormone resistance |
THRB |
Review |
1607 |
Molecular |
Thyroid hormone resistance, autosomal recessive |
THRB |
Review |
1608 |
Molecular |
*Trombofili Paneli |
MTHFR C677, FAKTOR5 LEIDEN, FAKTOR2, FAKTOR13, PAI |
Review |
1609 |
Molecular |
Tuberous sclerosis-1 |
TSC1-TSC2 |
Review |
1610 |
Molecular |
Lymphangioleiomyomatosis |
TSC1-TSC2 |
Review |
1611 |
Molecular |
Lymphangioleiomyomatosis, somatic |
TSC1-TSC2 |
Review |
1612 |
Molecular |
?Focal cortical dysplasia, type II, somatic |
TSC1-TSC2 |
Review |
1613 |
Molecular |
Focal cortical dysplasia, type II, somatic |
TSC1-TSC2 |
Review |
1614 |
Molecular |
Tuberous sclerosis-2 |
TSC1-TSC2 |
Review |
1615 |
Molecular |
Renal cell carcinoma, somatic |
VHL |
Review |
1616 |
Molecular |
Pheochromocytoma |
VHL |
Review |
1617 |
Molecular |
von Hippel-Lindau syndrome |
VHL |
Review |
1618 |
Molecular |
Erythrocytosis, familial, 2 |
VHL |
Review |
1619 |
Molecular |
Hemangioblastoma, cerebellar, somatic |
VHL |
Review |
1620 |
Molecular |
Wilson Disease |
ATP7B |
Review |
1621 |
Molecular |
Frasier syndrome |
WT1 |
Review |
1622 |
Molecular |
Mesothelioma, somatic |
WT1 |
Review |
1623 |
Molecular |
Wilms tumor, type 1 |
WT1 |
Review |
1624 |
Molecular |
Denys-Drash syndrome |
WT1 |
Review |
1625 |
Molecular |
Nephrotic syndrome, type 4 |
WT1 |
Review |
1626 |
Molecular |
Meacham syndrome |
WT1 |
Review |
1627 |
Molecular |
Y MİKRODELESYON |
AZFa, AZFb, AZFc, AZFd |
Review |
1628 |
FISH |
11q22.3 (ATM) Delesyonu FISH |
|
Review |
1629 |
FISH |
11q23 FISH |
|
Review |
1630 |
FISH |
13/21 FISH |
|
Review |
1631 |
FISH |
14 q Breakapart |
|
Review |
1632 |
FISH |
17p13.1 Delesyonu FISH |
|
Review |
1633 |
FISH |
20q12 Delesyonu FISH |
|
Review |
1634 |
FISH |
4q12 Deletion/Fusion |
|
Review |
1635 |
FISH |
5q31 Delesyonu FISH |
|
Review |
1636 |
FISH |
5q32 Breakapart |
|
Review |
1637 |
FISH |
7q11 Mikrodelesyon FISH |
|
Review |
1638 |
FISH |
7q31 Delesyonu FISH |
|
Review |
1639 |
FISH |
Digeorge 22q13.3 Deletion |
|
Review |
1640 |
FISH |
inv(16)(q22;p13) FISH |
|
Review |
1641 |
FISH |
t(11;14)(q13;q32) FISH |
|
Review |
1642 |
FISH |
t(12;21)(p13;q22) FISH |
|
Review |
1643 |
FISH |
t(15;17)(q24;q21) FISH |
|
Review |
1644 |
FISH |
t(4;14)(p16;q32) FISH |
|
Review |
1645 |
FISH |
t(8;21)(q21;q22) FISH |
|
Review |
1646 |
FISH |
t(9;22)(q34;11.2) FISH |
|
Review |
1647 |
FISH |
Trizomi / Monozomi 8 FISH |
|
Review |
1648 |
FISH |
Trizomi 12 FISH |
|
Review |
1649 |
FISH |
Xp22.3 Mikrodelesyon FISH |
|
Review |
1650 |
FISH |
Xp22.3/Xp22.31 Mikrodelesyon FISH |
|
Review |
1651 |
FISH |
Yp11.31 Mikrodelesyon FISH |
|
Review |
1652 |
FISH |
FISH, Trizomi/Monozomi 4 (CEP 4) (SE 4) (Sentromer 4) |
|
Review |
1653 |
FISH |
FISH, Trizomi/Monozomi 10 (CEP 10) (SE 10) (Sentromer 10) |
|
Review |
1654 |
FISH |
FISH, Trizomi/Monozomi 7 (CEP 7) (SE 7) (Sentromer 7) |
|
Review |
1655 |
FISH |
13q14.3 Delesyonu FISH |
|
Review |
1656 |
FISH |
15q11.2 Mikrodelesyon FISH |
|
Review |
1657 |
FISH |
17p11.2 Mikrodelesyon FISH |
|
Review |
1658 |
FISH |
17p13 Mikrodelesyon FISH |
|
Review |
1659 |
FISH |
1q21.3 Delesyon FISH |
|
Review |
1660 |
FISH |
5p15 Mikrodelesyon FISH |
|
Review |
1661 |
FISH |
8q24 FISH |
|
Review |
1662 |
FISH |
9p21 Delesyon FISH |
|
Review |
1663 |
FISH |
Digeorge 22q13.3 Deletion |
|
Review |
1664 |
FISH |
Digeorge 22q13.3 Deletion |
|
Review |
1665 |
FISH |
t(1;19)(q23;p13) FISH |
|
Review |
1666 |
FISH |
t(11;19)(q23;p13) FISH |
|
Review |
1667 |
FISH |
t(14;16)(q32;q23) Translokasyon FISH |
|
Review |
1668 |
FISH |
t(14;18)(q32;q21) FISH |
|
Review |
1669 |
FISH |
t(14;20)(q32;q12) Translokasyon FISH |
|
Review |
1670 |
FISH |
t(4;11) (q21;q23) FISH |
|
Review |
1671 |
FISH |
t(8;14)(q24;q32) FISH |
|
Review |
1672 |
FISH |
t(9;11)(p21;q23) FISH |
|
Review |
1673 |
FISH |
FISH, X / Y / 18 |
|
Review |
1674 |
FISH |
FISH, 1p.36.32/1q25 ve 19q13.2/19q.13.33 Delesyon Analizi |
|
Review |
1675 |
FISH |
17q12 FISH |
|
Review |
1676 |
FISH |
2p23.2-p23.1 FISH |
|
Review |
1677 |
FISH |
6q22.1 FISH |
|
Review |
1678 |
FISH |
1q22-q23.1 FISH |
|
Review |
1679 |
FISH |
9q21.32/q21.33 FISH |
|
Review |
1680 |
FISH |
15q25.3-q26.1 FISH |
|
Review |
1681 |
FISH |
t(11;22)(q24.3;q12.1-q12.2) FISH |
|
Review |
1682 |
FISH |
2p24.3/2q11.2 FISH |
|
Review |
1683 |
FISH |
17p13.1 FISH |
|
Review |
1684 |
FISH |
13q14 FISH |
|
Review |
1685 |
Cytogenetics |
*Kemik iliğinden kromozom analizi |
|
Review |
1686 |
Cytogenetics |
*Periferik kandan kromozom analizi |
|
Review |
1687 |
Cytogenetics |
*Fetal kandan kromozom analizi |
|
Review |
1688 |
Cytogenetics |
*Amnion sıvısından kromozom analizi |
|
Review |
1689 |
Cytogenetics |
Koryonik villusdan kromozom analizi |
|
Review |
1690 |
Cytogenetics |
*Düşük materyalinden kromozom analizi |
|
Review |
1691 |
Cytogenetics |
Diğer dokulardan kromozom analizi |
|
Review |
1692 |
MLPA Deletion-Duplication |
21-HİDROKSİLAZ YETMEZLİĞİ DELESYON-DUPLİKASYON ANALİZİ |
CYP21A2-CYP21A1P |
Review |
1693 |
MLPA Deletion-Duplication |
ALFA TALASEMİ DELESYON-DUPLİKASYON ANALİZİ |
HBA1-HBA2-HBZ |
Review |
1694 |
MLPA Deletion-Duplication |
BRCA1 GENİ DELESYON DUPLİKASYON ANALİZİ |
BRCA1 |
Review |
1695 |
MLPA Deletion-Duplication |
BRCA2 GENİ DELESYON DUPLİKASYON ANALİZİ |
BRCA2 |
Review |
1696 |
MLPA Deletion-Duplication |
CHARCOT-MARİE-TOOTH HASTALIĞI TİP1 DELESYON-DUPLİKASYON ANALİZİ |
PMP22-TEKT3-KIF1b-COX10 |
Review |
1697 |
MLPA Deletion-Duplication |
DUCHENNE/BECKER MUSKÜLER DİSTROFİ DELESYON-DUPLİKASYON ANALİZİ 2 PROP |
DMD |
Review |
1698 |
MLPA Deletion-Duplication |
KİSTİK FİBROZİS DELESYON-DUPLİKASYON ANALİZİ |
CFTR |
Review |
1699 |
MLPA Deletion-Duplication |
SPİNAL MUSKÜLER ATROFİ DELESYON DUPLİKASYON ANALİZİ |
SMN1-SMN2 |
Review |
1700 |
MLPA Deletion-Duplication |
BECKWİTH-WİEDEMANN SENDROMU DELESYON-DUPLİKASYON ANALİZİ |
CDKN1C-NSD1-H19-IGF2-KCNQ1-KCNQ1OT1 |
Review |
1701 |
MLPA Deletion-Duplication |
BETA TALASEMİ DELESYON-DUPLİKASYON ANALİZİ |
HBB |
Review |
1702 |
MLPA Deletion-Duplication |
CDKL5 GENİ DELESYON-DUPLİKASYON ANALİZİ |
MECP2-CDKL5-ARX-NTNG1 |
Review |
1703 |
MLPA Deletion-Duplication |
COL7A1 GENİ DELESYON-DUPLİKASYON ANALİZİ |
COL7A1-KRT5 |
Review |
1704 |
MLPA Deletion-Duplication |
DİGEORGE SENDROMU DELESYON-DUPLİKASYON ANALİZİ |
PPIL2-SLC25A18-DGCR8-HIRA-SNRPD3-TBX1-MICAL3-CLTCL1-CLDN5-ZNF74-GP1BB-GNAZ-SMARCB1-USP18-TXNRD2-RSPH14-KLHL22-TOP3B-HIC2-MED15-IL17RA-RAB36-BID-SNAP29-LZTR1-CDC45 |
Review |
1705 |
MLPA Deletion-Duplication |
FANCA GENİ DELESYON DUPLİKASYON ANALİZİ 2 PROP |
FANCA |
Review |
1706 |
MLPA Deletion-Duplication |
HOLOPROZENSEFALİ DELESYON-DUPLİKASYON ANALİZİ |
GLI2-ZIC2-SHH-TGIF1-SIX2-SIX3-PTCH1-TRAPPC10-FBXW11 |
Review |
1707 |
MLPA Deletion-Duplication |
HPRT1 GENİ DELESYON-DUPLİKASYON ANALİZİ |
HPRT1-PLAC1 |
Review |
1708 |
MLPA Deletion-Duplication |
İŞİTME KAYBI DELESYON-DUPLİKASYON ANALİZİ |
GJB2-GJB3-GJB6-WFS1-POU3F4 |
Review |
1709 |
MLPA Deletion-Duplication |
KRT5 GENİ DELESYON-DUPLİKASYON ANALİZİ |
COL7A1-KRT5 |
Review |
1710 |
MLPA Deletion-Duplication |
MARFAN SENDROMU DELESYON-DUPLİKASYON ANALİZİ 2 PROP |
FBN1-TGFBR2 |
Review |
1711 |
MLPA Deletion-Duplication |
MİTOKONDRİAL DNA DELESYON DUPLİKASYON ANALİZİ |
MT-DNA |
Review |
1712 |
MLPA Deletion-Duplication |
NÖROFİBROMATOZİS TİP1 DELESYON-DUPLİKASYON ANALİZİ2 PROP |
NF1 |
Review |
1713 |
MLPA Deletion-Duplication |
NÖROFİBROMATOZİS TİP2 DELESYON-DUPLİKASYON ANALİZİ |
NF2 |
Review |
1714 |
MLPA Deletion-Duplication |
PAX6 GENİ DELESYON-DUPLİKASYON ANALİZİ |
PAX6-WT1-SOX2-DCDC1-ELP4-FSHB-LMO2-HIPK3-BDNF-RCN1-CD44 |
Review |
1715 |
MLPA Deletion-Duplication |
PKD1-PKD2 GENLERİ DELESYON-DUPLİKASYON ANALİZİ |
PKD1-PKD2 |
Review |
1716 |
MLPA Deletion-Duplication |
PLP1 GENİ DELESYON-DUPLİKASYON ANALİZİ |
PLP1-ESX1-NXF3-BEX4-RAB40AL-RAB9B-FAM199X-NGFRAP1-TMSB15B-MORF4L2-BEX2-BHLHB9-ARMCX5-TCEAL1-IL1RAPL2-RAB40A-GLRA4-TMSB15A-MCART6-SERPINA7-TMEM31 |
Review |
1717 |
MLPA Deletion-Duplication |
POR GENİ DELESYON-DUPLİKASYON ANALİZİ |
POR-HSPB1 |
Review |
1718 |
MLPA Deletion-Duplication |
PRADER-WİLLİ / ANGELMAN SENDROMU DELESYON-DUPLİKASYON ANALİZİ |
UBE3A-SNRPN-OCA2-TUBGCP5-MKRN3-APBA2-GABRB3-ATP10A-MAGEL2-NDN-NIPA1 |
Review |
1719 |
MLPA Deletion-Duplication |
RESESİF ATAKSİ DELESYON-DUPLİKASYON ANALİZİ |
APTX-SETX-FXN |
Review |
1720 |
MLPA Deletion-Duplication |
RETT SENDROMU DELESYON-DUPLİKASYON ANALİZİ |
MECP2-CDKL5-ARX-NTNG1 |
Review |
1721 |
MLPA Deletion-Duplication |
RUSSELL-SİLVER SENDROMU DELESYON-DUPLİKASYON ANALİZİ |
CDKN1C-NSD1-H19-IGF2-KCNQ1-KCNQ1OT1 |
Review |
1722 |
MLPA Deletion-Duplication |
TSC2 GENİ DELESYON-DUPLİKASYON ANALİZİ |
TSC2 |
Review |
1723 |
MLPA Deletion-Duplication |
NÖROMETABOLİK DELESYON-DUPLİKASYON ANALİZİ |
MLC1-MLYCD-D2HGDH-L2HGDH |
Review |
1724 |
MLPA Deletion-Duplication |
FOXL2-TWIST1 GENLERİ DELESYON-DUPLİKASYON ANALİZİ |
FOXL2-TWIST1-GPR143-PITX2-ATR-PISRT1-FOXC1-FOXC2 |
Review |
1725 |
MLPA Deletion-Duplication |
AR GENİ DELESYON-DUPLİKASYON ANALİZİ |
AR |
Review |
1726 |
MLPA Deletion-Duplication |
TSC1 GENİ DELESYON-DUPLİKASYON ANALİZİ |
TSC1 |
Review |
1727 |
MLPA Deletion-Duplication |
NPC1-NPC2-SMPD1 GENLERİ DELESYON-DUPLİKASYON ANALİZİ |
NPC1-NPC2-SMPD1 |
Review |
1728 |
MLPA Deletion-Duplication |
NPHP1 GENİ DELESYON-DUPLİKASYON ANALİZİ |
NPHP1 |
Review |
1729 |
MLPA Deletion-Duplication |
BTK GENİ DELESYON-DUPLİKASYON ANALİZİ |
BTK |
Review |