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3571
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DnaJ heat shock protein family (Hsp40) member C13 |
PARK21, RME8 |
Akinesia, Cerebral cortical atrophy, Dementia, Dyskinetic syndrome, Dysphagia, Dyssomnia, Hereditary parkinson`s disease, Mental depression, Parkinson disease, Schizophrenia, Sleep disorders, Tremor |
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3572
|
|
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Fragile X messenger ribonucleoprotein 1 |
FMRP, FRAXA, POF, POF1 |
Anxiety disorder, Attention deficit hyperactivity disorder, Autism, Bowel incontinence, Cerebellar atrophy, Cerebral cortical atrophy, Cognitive disorder, Congenital macroorchidism, Congenital pectus excavatum, Cryptorchidism, Dementia, Developmental delay, Dwarfism, Dysarthria, Dysautonomia, Dysphagia, Erectile dysfunction, Fragile x syndrome, Frontal bossing, Gastroesophageal reflux disease, Gonadal agenesis, Gonadal dysgenesis, Gonadotropin-resistant ovary syndrome, Gynecomastia, Hypertension, Hypogonadism, Hypothyroidism, Mental retardation, Macrocephaly, Macrotia, Malocclusion, Mental depression, Mitral valve prolapse, Mixed anxiety and depressive disorder, Nystagmus, Obsessive-compulsive disorder, Otitis media, Ovarian failure, Parkinson disease, Periventricular nodular heterotopia, Premature menopause, Premature ovarian failure, Schizophrenia, Scoliosis, Sinusitis, Speech disorders, Strabismus, Xq27.3q28 duplication syndromeView all (33 more) |
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3573
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Tripartite motif containing 2 |
CMT2R, RNF86 |
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3574
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RPGRIP1 like |
COACH3, CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134 |
Agenesis of corpus callosum, Anencephaly, Cataract, Cerebellar diseases, Cerebellar vermis agenesis, Ciliary dyskinesia, Ciliopathies, Cirrhosis, Coloboma of optic disc, Asplenia, Congenital cerebral hernia, Congenital coloboma of iris, Congenital hepatic fibrosis, Congenital ocular coloboma, Cryptorchidism, Cystic liver disease, Dandy-walker syndrome, Developmental delay, Diabetes mellitus, Disorder of eye, Double ureter, Fibrosis of pancreas, Foot polydactyly, Fundus coloboma, Hirschsprung disease, Hydrocephalus, Hypertension, Joubert syndrome, Joubert syndrome with congenital hepatic fibrosis, Joubert syndrome with hepatic defect, Joubert syndrome with renal defect, Kidney disease, Liver neoplasms, Liver failure, Liver fibrosis, Lobar holoprosencephaly, Macrocephaly, Macrostomia, Male pseudohermaphroditism, Malformation of cortical development, Meckel syndrome, Meckel-gruber syndrome, Mental retardation, Microcephaly, Microcornea, Micrognathism, Microphthalmos, Multicystic renal dysplasia, Multiple small medullary renal cysts, Nephronophthisis, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oculovestibuloauditory syndrome, Optic atrophy, Oral cleft, Pancreatic cyst, Polycystic liver disease, Polydactyly, Polymicrogyria, Portal hypertension, Ptosis, Renal cyst, Renal insufficiency, Retinal coloboma, Retinal dystrophy, Sclerocornea, Scoliosis, Situs inversus, Sleep apnea, Strabismus, Syndromic microphthalmia, Talipes, True hermaphroditism, Postaxial hand polydactyly, Urethral atresia, VitiligoView all (62 more) |
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3575
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|
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WASH complex subunit 4 |
KIAA1033, MRT43, SWIP |
Absence of septum pellucidum, Autism, Central visual impairment, Cerebral atrophy, Cortical dysplasia, Developmental delay, Dwarfism, Dyskinetic syndrome, Dyssomnia, Hypoplasia of corpus callosum, Mental retardation, Mental depression, Microcephaly, Motor delay, Non-syndromic intellectual disability, Polymicrogyria, Salaam seizures, Seizure, Sleep disorders, Stereotyped behaviorView all (5 more) |
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3576
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NEDD4 like E3 ubiquitin protein ligase |
NEDD4-2, NEDD4.2, PVNH7, RSP5, hNEDD4-2 |
Aortic aneurysm, Aortic valve insufficiency, Asthma, Cryptorchidism, Developmental delay, Endometrioma, Endometriosis, Epileptic encephalopathy, Gastroesophageal reflux disease, Hypertension, Leukemia, Mental retardation, Micrognathism, Migraine, Migraine with aura, Patent ductus arteriosus, Periventricular heterotopia, x-linked, Periventricular nodular heterotopia, Polysyndactyly, Periventricular heterotopia, Scoliosis, Strabismus, Syndactyly, Syndactyly of the toesView all (9 more) |
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3577
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|
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SAM and SH3 domain containing 1 |
CAPOK, DUH, DUH1, SH3D6A, dJ323M4.1 |
Alopecia, Carcinoma, Diabetic nephropathy, Dyschromatosis, Dyschromatosis universalis hereditaria, Lentiginosis profusa, Leukemia, Multinodular goiter, Nail dystrophy, Palmoplantar keratoderma, Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome, Rotator cuff syndrome |
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3578
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Tetratricopeptide repeat domain 28 |
TPRBK |
|
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3579
|
|
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Cytoplasmic linker associated protein 1 |
MAST1 |
|
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3580
|
|
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SZT2 subunit of KICSTOR complex |
C1orf84, DEE18, EIEE18, KIAA0467, KICS1, SZT2A, SZT2B |
Alzheimer disease, Attention deficit hyperactivity disorder, Autism, Cerebral atrophy, Cryptorchidism, Developmental delay, Developmental regression, Dwarfism, Dyskinetic syndrome, Epilepsy, Epileptic encephalopathy, Gastroesophageal reflux disease, Hypodontia, Mental retardation, Microcephaly, Non-specifi epileptic encephalopathy, Nystagmus, Optic atrophy, Ptosis, Status epilepticusView all (5 more) |
