Genetic Tests

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