|
881
|
|
|
Cilia and flagella associated protein 92 (putative) |
FAP92, KIAA1257 |
|
|
882
|
|
|
Component of oligomeric golgi complex 6 |
CDG2L, COD2, SHNS |
Anemia, Arthritis, Asthma, Cerebral atrophy, Cholestasis, Congenital disorder of glycosylation, Congenital epicanthus, Dental enamel hypoplasia, Developmental delay, Hyperbilirubinemia, Hyperkeratosis, Hypohidrosis, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, Immunologic deficiency syndromes, Lupus erythematosus, Mental retardation, Microcephaly, Oligoarticular arthritis, Palmoplantar keratosis, Pancytopenia, Pauciarticular chronic arthritis, Seronegative polyarthritis, Psoriasis, Respiratory tract diseases, Rheumatoid arthritis, Shaheen syndrome, Still disease, Uterine fibroids, Plexiform leiomyomaView all (14 more) |
|
883
|
|
|
Coiled-coil and C2 domain containing 2A |
COACH2, JBTS9, MKS6, RP93 |
Anencephaly, Arima syndrome, Astigmatism, Autism, Cataract, Cerebellar vermis agenesis, Ciliopathies, Cirrhosis, Coloboma of optic disc, Asplenia, Congenital cerebral hernia, Congenital clubfoot, Congenital coloboma of iris, Congenital hepatic fibrosis, Pulmonary hypoplasia, Congenital ocular coloboma, Cryptorchidism, Cystic liver disease, Dandy-walker syndrome, Developmental delay, Disorder of eye, Double ureter, Encephalocele, Fibrosis of pancreas, Foot polydactyly, Fundus coloboma, Gastrointestinal stromal tumor, Hirschsprung disease, Hydrocephalus, Hypertension, Joubert syndrome, Joubert syndrome with congenital hepatic fibrosis, Joubert syndrome with hepatic defect, Joubert syndrome with oculorenal defect, Joubert syndrome, digenic, Kidney disease, Leukemia, 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 kidney disease, Polycystic liver disease, Polydactyly, Polydactyly of toes, Portal hypertension, Ptosis, Renal cyst, Renal insufficiency, Retinal coloboma, Retinal dystrophy, Rod-cone dystrophy, Sclerocornea, Scoliosis, Situs inversus, Strabismus, Syndromic microphthalmia, Talipes, True hermaphroditism, Postaxial hand polydactyly, Urethral atresiaView all (67 more) |
|
884
|
|
|
Centrosomal protein 126 |
KIAA1377 |
|
|
885
|
|
|
Cramped chromatin regulator 1 |
CRAMP1L, HN1L, TCE4 |
|
|
886
|
|
|
Calcium binding and coiled-coil domain 1 |
Cocoa, PP13275, calphoglin |
|
|
887
|
|
|
Chromodomain helicase DNA binding protein 8 |
AUTS18, HELSNF1, IDDAM |
Autism, Autism spectrum disorder, Dysmorphic features, Dyssomnia, Eczema, Functional gastrointestinal disorders, Gastrointestinal diseases, Mental retardation, Macrocephaly, Multiple congenital anomalies, Sleep disorders |
|
888
|
|
|
Cache domain containing 1 |
- |
|
|
889
|
|
|
Copine 5 |
COPN5, CPN5 |
|
|
890
|
|
|
CWC22 spliceosome associated protein |
EIF4GL, NCM, fSAPb |
|
