11641
|
|
|
Sodium voltage-gated channel alpha subunit 8 |
BFIS5, CERIII, CIAT, DEE13, EIEE13, MED, MYOCL2, NaCh6, Nav1.6, PN4 |
Alzheimer disease, Arthrogryposis multiplex congenita, Ataxia, Autism, Nonsyndromic intellectual disability, Benign infantile epilepsy, Bipolar disorder, Cerebellar ataxia, Choreoathetosis, Cognitive impairment with or without cerebellar ataxia, Neurodevelopmental disorder, Developmental and epileptic encephalopathy, Developmental disability, Developmental regression, Digestive system disease, Partial epilepsy, Epilepsy, Febrile convulsion, Focal onset epileptic seizure, Global developmental delay, Intellectual developmental disorder, Major depressive disorder, Mood disorder, Nervous system disease, Non-specific syndromic intellectual disability, Pena-shokeir syndrome , Seizures, Intellectual disability, Spastic ataxia, Status epilepticus, Tremor, West syndromeView all (17 more) |
11642
|
|
|
Sodium voltage-gated channel alpha subunit 9 |
ETHA, FEB3B, GEFSP7, HSAN2D, NE-NA, NENA, Nav1.7, PN1, SFNP |
Biliary atresia, Charcot-marie-tooth disease, Chronic pain, Congenital insensitivity to pain, Congenital pain insensitivity, Dental caries, Diverticular disease, Dravet syndrome, Epilepsy, Rolandic epilepsy, Primary erythromelalgia, Erythromelalgia, Febrile convulsion, Generalized epilepsy with febrile seizures plus, Global developmental delay, Hereditary sensory and autonomic neuropathy, Hypoglycemia, Paroxysmal extreme pain disorder, Pruritus, SchizophreniaView all (5 more) |
11643
|
|
|
Sodium channel modifier 1 |
OFD19 |
|
11644
|
|
|
Sodium channel epithelial 1 subunit alpha |
BESC2, ENaCa, ENaCalpha, LIDLS3, PHA1B1, SCNEA, SCNN1 |
Ankylosing spondylitis, Autism, Autoinflammatory syndrome, Bronchiectasis, Brugada syndrome, Crohn disease, Cystic fibrosis, Hypertension, Inflammatory bowel disease, Liddle syndrome, Lung disease, Obesity, Polycystic ovary syndrome, Preeclampsia, Biliary cholangitis, Proteinuria, Pseudohypoparathyroidism, Psoriasis, Ulcerative colitisView all (4 more) |
11645
|
|
|
Sodium channel epithelial 1 subunit beta |
BESC1, ENaCb, ENaCbeta, LIDLS1, PHA1B2, SCNEB, beta-ENaC, beta-NaCH |
Autism, Bronchiectasis, Cystic fibrosis, Diabetic ketoacidosis, Maturity-onset diabetes of the young (mody), Hypertension, Liddle syndrome, Lung disease, Nephrolithiasis, Pseudohypoparathyroidism, Schizophrenia, Diabetes mellitus type 1 |
11646
|
|
|
Sodium channel epithelial 1 subunit gamma |
BESC3, ENaCg, ENaCgamma, LDLS2, PHA1, PHA1B3, SCNEG |
|
11647
|
|
|
Synthesis of cytochrome C oxidase 1 |
MC4DN4, SCOD1 |
|
11648
|
|
|
Synthesis of cytochrome C oxidase 2 |
CEMCOX1, ECGF1, Gliostatin, MC4DN2, MYP6, PD-ECGF, SCO1L, TP, TYMP, TdRPase |
Charcot-marie-tooth disease, Brain disease, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Cardiomyopathy, Dilated cardiomyopathy, Cytochrome c oxidase deficiency, Hypertrophic cardiomyopathy, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial dna depletion syndrome, Mitochondrial encephalomyopathy, Myopia, Retinitis pigmentosa |
11649
|
|
|
Short coiled-coil protein |
HRIHFB2072, SCOCO, UNC-69 |
|
11650
|
|
|
Sterol carrier protein 2 |
NLTP, NSL-TP, SCOX, SCP-2, SCP-CHI, SCP-X, SCPX |
|
