Genetik Testler - Özel Deta-Gen Genetik Hastalıklar Değerlendirme Merkezi - Kayseri

Genetik Testler

Genetik test ile ilgili kelimeleri aşağıdaki form alanına yazarak aramış olduğunuz test ile ilgili bilgilere ulaşabilirsiniz.

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