551
|
|
|
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 |
SERCA3 |
|
552
|
|
|
ATPase plasma membrane Ca2+ transporting 1 |
MRD66, PMCA1, PMCA1kb |
Atrial fibrillation, Cardiovascular diseases, Cataract, Coronary arteriosclerosis, Coronary artery disease, Coronary heart disease, Diabetes, Diabetes mellitus, Heart failure, Hypertension, Malignant neoplasm, Myocardial infarction, Stroke |
553
|
|
|
ATPase plasma membrane Ca2+ transporting 2 |
DFNA82, PMCA2, PMCA2a, PMCA2i |
|
554
|
|
|
ATPase plasma membrane Ca2+ transporting 3 |
CFAP39, CLA2, OPCA, PMCA3, PMCA3a, SCAX1 |
Adenoma, Hyperaldosteronism, Aldosterone-producing adrenal cortex adenoma, Cerebellar ataxia, x-linked, Cerebellar atrophy, Cerebellar hypoplasia, Conn syndrome, Developmental delay, Dysarthria, Hypertension, Motor delay, Hypotonia, Nystagmus, Oropharyngeal dysphagia, Papillary adenoma, Spinocerebellar ataxia, x-linked, StrabismusView all (2 more) |
555
|
|
|
ATPase H+/K+ transporting subunit alpha |
ATP6A |
|
556
|
|
|
ATP synthase F1 subunit alpha |
ATP5A, ATP5A1, ATP5AL2, ATPM, COXPD22, HEL-S-123m, MC5DN4, MC5DN4A, MC5DN4B, MOM2, OMR, ORM, hATP1 |
Alzheimer disease, Cerebellar hypoplasia, Combined oxidative phosphorylation deficiency, Pulmonary hypoplasia, Congestive heart failure, Epileptic encephalopathy, Isolated atp synthase deficiency, Microcephaly, Mitochondrial complex deficiency, Nystagmus, Pulmonary arterial hypertension, Senile dementia |
557
|
|
|
Aconitase 2 |
ACONM, HEL-S-284, ICRD, OCA8, OPA9 |
Arachnoid cyst, Breast cancer, Breast carcinoma, Cerebellar atrophy, Cerebellar-retinal degeneration, Cerebral cortical atrophy, Color blindness, Crohn disease, Demyelinating neuropathy, Developmental delay, Frontal bossing, Hypoplasia of corpus callosum, Mental retardation, Liver carcinoma, Movement disorders, Nystagmus, Optic atrophy, Respiratory distress syndrome, Respiratory tract diseases, Retinal dystrophy, Sensorineural hearing loss, StrabismusView all (7 more) |
558
|
|
|
Aldehyde dehydrogenase 7 family member A1 |
ATQ1, EPD, EPEO4, PDE |
Bone disease, Congenital alveolar dysplasia, Cerebral cortical atrophy, Congenital ocular coloboma, Convulsions, Developmental delay, Diabetes mellitus, Dysmorphic features, Epilepsy, Gastric cancer, Mental retardation, Movement disorders, Myoclonic seizures, Osteoporosis, Pyridoxine-dependent epilepsy, Seizure, Speech disorders, Status epilepticus, Stomach neoplasms, Strabismus, Uveoretinal colobomaView all (6 more) |
559
|
|
|
ATP synthase F1 subunit beta |
ATP5B, ATPMB, ATPSB, HEL-S-271, HUMOP2 |
|
560
|
|
|
ATPase H+ transporting V0 subunit a4 |
A4, ATP6N1B, ATP6N2, DRTA3, RDRTA2, RTA1C, RTADR, STV1, VPH1, VPP2 |
|