1202
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Transmembrane protein 63C |
C14orf171, CSC1, SPG87, hTMEM63C, hsCSC1 |
Curated: Spastic paraplegia, Bipolar disorder, Large artery stroke
Unreviewed: Glomerulosclerosis, Hereditary spastic paraplegia, Intellectual developmental disorder, Papillary thyroid cancer
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1205
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Transmembrane protein 67 |
JBTS6, MECKELIN, MKS3, NPHP11, TNEM67 |
Curated: Anhydramnios, Hemolytic uremic syndrome, Bardet-biedl syndrome, Boichis syndrome, Cerebellar malformation, Ciliopathy, Coach syndrome, Congenital neurologic anomalies, Congenital ocular coloboma, Cystic kidney disease, Desbuquois syndrome, Aplasia of the vermis, Global developmental delay, Insomnia, Intellectual developmental disorder, Joubert syndrome, Kidney disease, Liver cirrhosis, Meckel-gruber syndrome, Nephronophthisis, Nystagmus, Pancreatitis, Portal hypertension, Retinitis pigmentosa, Rhyns syndrome, Senior-boichis syndrome, Intellectual disability, Spastic ataxia
Unreviewed: Agenesis Of Corpus Callosum, Anemia, Anencephaly, Apraxia, Asplenia, Bardet-Biedl Syndrome, Brachydactyly, Cataract, Cerebellar vermis agenesis, Chronic obstructive pulmonary disease, Ciliopathies, Cirrhosis, Coloboma, Coloboma of optic disc, Congenital Cerebral Hernia, Congenital Coloboma Of Iris, Congenital Hepatic Fibrosis, Cryptorchidism, Cystic Kidney Disease, Cystic liver disease, Dandy-Walker Syndrome, Developmental Delay, Diastrophic Dysplasia, Disorder Of Eye, Double Ureter, Dwarfism, Dysmorphic Features, Encephalocele, Esophageal neoplasm, Exotropia, Fibrosis Of Pancreas, Foot Polydactyly, Fundus Coloboma, Hearing Loss, Hepatic fibrosis, Hirschsprung Disease, Hydrocephalus, Hypertension, Hypothyroidism, Isolated Somatotropin Deficiency, Jacobsen Syndrome, Johanson-Blizzard Syndrome, Joubert Syndrome, Joubert syndrome with congenital hepatic fibrosis, Joubert Syndrome With Hepatic Defect, Keratosis Follicularis, Kidney Disease, Liver Cirrhosis, Liver disease, Liver failure, Liver Fibrosis, Liver neoplasms, Lobar Holoprosencephaly, Lung neoplasms, Macrocephaly, Macrostomia, Male Pseudohermaphroditism, Malformation of cortical development, Meckel syndrome, Meckel-Gruber Syndrome, Mental retardation, Microcephaly, Microcornea, Micrognathism, Microphthalmos, MOHR-TRANEBJAERG SYNDROME, Movement Disorders, Multicystic renal dysplasia, Multiple Congenital Anomalies, Multiple small medullary renal cysts, Obesity, Occipital Encephalocele, Oculomotor apraxia, Oculovestibuloauditory Syndrome, Optic Atrophy, Oral cleft, Osteochondrodysplasia, Osteopenia, Pancreatic Cyst, Polycystic kidney disease, Polycystic liver disease, Polydactyly, Polydactyly Of Toes, Polymicrogyria, Portal Hypertension, Postaxial hand polydactyly, Prolactinoma, Ptosis, Renal corticomedullary cysts, Renal Insufficiency, Retinal coloboma, RHYNS Syndrome, Rod-cone dystrophy, Sclerocornea, Scoliosis, Senior-Boichis Syndrome, Situs Inversus, Skeletal Dysplasia, Somatotropin Deficiency, Spastic Paraplegia, Strabismus, Syndromic microphthalmia, Talipes, Trichohepatoenteric Syndrome, True Hermaphroditism, Urethral atresia, Urothelial Carcinoma
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