|
1211
|
|
|
C-C motif chemokine receptor 9 |
CC-CKR-9, CDw199, GPR-9-6, GPR28 |
|
|
1212
|
|
|
Gap junction protein beta 6 |
CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2 |
Alopecia, Aplasia cutis congenita, Arthritis, Cataract, Cerebellar hypoplasia, Conjunctivitis, Corneal erosion, Corneal neovascularization, Cryptorchidism, Deafness, Deafness, digenic, Dwarfism, Ectodermal dysplasia, Hearing loss, Hemiplegia/hemiparesis, Hidrotic ectodermal dysplasia, Hirschsprung disease, Hypohidrosis, Hypohidrotic ectodermal dysplasia, Hypotrichosis, Ichthyosis, Impaired cognition, Keratitis, Keratitis ichthyosis and deafness syndrome, Kid syndrome, Leukoplakia, Mental retardation, Nail diseases, Nail dysplasia, Nail dystrophy, Non-syndromic sensorineural deafness, Nonsyndromic deafness, Onychogryposis, Onycholysis, Palmoplantar keratoderma, Palmoplantar keratosis, Senter syndrome, Skin carcinoma, Strabismus, Syndactyly of fingers, UrticariaView all (26 more) |
|
1213
|
|
|
SHH signaling and ciliogenesis regulator SDCCAG8 |
BBS16, CCCAP, CCCAP SLSN7, HSPC085, NPHP10, NY-CO-8, SLSN7, hCCCAP |
Bardet-biedl syndrome, Bipolar disorder, Bronchiolitis, Cataract, Ciliopathies, Congenital hepatic fibrosis, Hypoplasia of the ovary, Congenital hypoplasia of penis, Cryptorchidism, Cystic kidney disease, Developmental delay, Disorder of eye, Dwarfism, Hypertension, Hypogonadism, Impaired cognition, Kidney disease, Kidney failure, Liver fibrosis, Mental retardation, Multicystic renal dysplasia, Nephronophthisis, Nephrotic syndrome, Nystagmus, Obesity, Otitis media, Premature menopause, Renal agenesis, Renal cyst, Renal dysplasia, Renal dysplasia and retinal aplasia, Renal insufficiency, Retinal diseases, Retinal dystrophy, Retinitis pigmentosa, Rod-cone dystrophy, Schizoaffective disorder, Schizophrenia, Senior-loken syndrome, Speech disorders, Syndactyly of fingers, Postaxial hand polydactylyView all (27 more) |
|
1214
|
|
|
Heat shock protein family H (Hsp110) member 1 |
HSP105, HSP105A, HSP105B, NY-CO-25 |
|
|
1215
|
|
|
StAR related lipid transfer domain containing 10 |
CGI-52, NY-CO-28, PCTP2, SDCCAG28 |
|
|
1216
|
|
|
Glycoprotein hormones, alpha polypeptide |
CG-ALPHA, FSHA, GPA1, GPHA1, GPHa, HCG, LHA, TSHA |
|
|
1217
|
|
|
WASP family member 3 |
Brush-1, SCAR3, WAVE3 |
|
|
1218
|
|
|
Complexin 2 |
921-L, CPX-2, CPX2, Hfb1 |
|
|
1219
|
|
|
Complexin 1 |
CPX-I, CPX1, DEE63, EIEE63 |
Absence of septum pellucidum, Attention deficit hyperactivity disorder, Axenfeld anomaly, Bipolar disorder, Congenital anomaly of eye, Congenital clubfoot, Congenital epicanthus, Rib fusion, Cryptorchidism, Developmental delay, Developmental regression, Dwarfism, Dysarthria, Epileptic encephalopathy, Febrile seizures, Gastroesophageal reflux disease, Hemangioma, Hereditary leber optic atrophy, Hypodontia, Hypospadias, Immunologic deficiency syndromes, Mental retardation, Language disorders, Manic disorder, Mental depression, Microcephaly, Micrognathism, Myoclonic epilepsy, Myoclonic seizures, Nystagmus, Photosensitive tonic-clonic seizures, Pitt-rogers-danks syndrome, Precocious puberty, Proptosis, Psychosis, Ptosis, Radioulnar synostosis, Rieger syndrome, Schizoaffective disorder, Schizophrenia, Schizophreniform disorders, Scoliosis, Stenosis of external auditory canal, Stereotyped behavior, Strabismus, Ventricular septal defect, Wolf-hirschhorn syndromeView all (32 more) |
|
1220
|
|
|
Fibroblast growth factor receptor substrate 2 |
FRS1A, FRS2A, FRS2alpha, SNT, SNT-1, SNT1 |
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