|
591
|
|
|
ATPase H+ transporting V1 subunit B2 |
ATP6B1B2, ATP6B2, DOOD, HO57, VATB, VPP3, Vma2, ZLS2 |
Anonychia, Aplasia cutis congenita, Arthritis, Brachydactyly, Cataract, Deafness, Deafness-onychodystrophy syndrome, Dolichocephaly, Dwarfism, Hearing loss, Hidrotic ectodermal dysplasia, High palate, Hypodontia, Hypoplasia of thumb, Lymphoma, Macroglossia, Macrostomia, Mental depression, Mental retardation, Micrognathism, Nail dystrophy, Oligodontia, Osteoarthrosis deformans, Syndactyly of the toes, Synophrys, Zimmerman laband syndromeView all (11 more) |
|
592
|
|
|
ATPase H+ transporting V1 subunit E1 |
ARCL2C, ATP6E, ATP6E2, ATP6V1E, P31, Vma4 |
Acquired kyphoscoliosis, Aortic valve insufficiency, Atrial septal defect, Biventricular hypertrophy, Bundle branch block, Cerebellar hypoplasia, Colorectal cancer, Congenital clubfoot, Developmental dysplasia of the hip, Congenital kyphoscoliosis, Cryptorchidism, Cutis laxa, Dandy-walker syndrome, Dementia, Developmental delay, Dwarfism, Entropion, High palate, Laryngomalacia, Lipodystrophy, Mitral valve prolapse, Motor delay, Myopia, Nystagmus, Pachygyria, Polymicrogyria, Strabismus, Tricuspid valve insufficiencyView all (13 more) |
|
593
|
|
|
Acid phosphatase 2, lysosomal |
LAP |
|
|
594
|
|
|
ATPase H+ transporting V0 subunit b |
ATP6F, HATPL, VMA16 |
|
|
595
|
|
|
ATPase H+ transporting V1 subunit G2 |
ATP6G, ATP6G2, NG38, VMA10 |
|
|
596
|
|
|
ADAM metallopeptidase domain 22 |
ADAM 22, DEE61, EIEE61, MDC2 |
|
|
597
|
|
|
ATPase H+ transporting accessory protein 1 |
16A, ATP6IP1, ATP6S1, Ac45, CF2, VATPS1, XAP-3, XAP3 |
|
|
598
|
|
|
ATPase copper transporting alpha |
DSMAX, HMNX, MK, MNK, SMAX3 |
Anemia, Aortic aneurysm, Aortic rupture, Avascular necrosis of the capital femoral epiphysis, Bladder carcinoma, Bladder diverticulum, Brachycephaly, Brachydactyly, Chondrocalcinosis, Clonic seizures, Colonic neoplasms, Congenital exomphalos, Short clavicles, Congenital pectus carinatum, Congenital pectus excavatum, Cutis laxa, Cutis laxa, x-linked, Developmental delay, Developmental regression, Distal amyotrophy, Dwarfism, Dysphagia, Eosinophilia, Gastroesophageal reflux disease, Gastroparesis, Hematomas, Hernia, femoral, Hiatal hernia, High palate, Hydronephrosis, Hypoglycemia, Hypopigmentation disorder, Hypotonic seizures, Intravascular hemolysis, Jacksonian seizure, Legg-calve-perthes disease, Malabsorption syndrome, Menkes disease, Menkes kinky hair syndrome, Mental retardation, Microcephaly, Micrognathism, Moyamoya disease, Occipital horn syndrome, Osseous ankylosis, Osteomyelitis, Osteopenia, Osteoporosis, Pelvic bone exostoses, Rickets, Rubral tremor, Scoliosis, Seizure, Specific learning disorder, Spinal muscular atrophy, Spinal muscular atrophy, x-linked, Tarsal coalition, Venous insufficiencyView all (43 more) |
|
599
|
|
|
Alpha 1,4-galactosyltransferase (P1PK blood group) |
A14GALT, A4GALT1, Gb3S, P(k), P1, P1PK, PK |
|
|
600
|
|
|
Acid phosphatase 5, tartrate resistant |
HPAP, TRACP5a, TRACP5b, TRAP, TRAcP, TrATPase |
Acquired kyphoscoliosis, Arthritis, Autoinflammatory disease, Congenital kyphoscoliosis, Dwarfism, Hyperparathyroidism, Hypothyroidism, Immune thrombocytopenic purpura, Spastic diplegia, Micromelia, Obesity, Otitis media, Rhizomelia, Severe combined immunodeficiency disease, Sinusitis, Spondyloenchondrodysplasia, Spondyloenchondrodysplasia with immune dysregulation, Strudwick syndrome, VitiligoView all (4 more) |
