Índice de enfermedades genéticas ofrecidas por AC Gen Reading Life
|
Busca la enfermedad o gen a estudiar (Recomendable en inglés) |
|
A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z
| Enfermedad/Phenotype | Phenotype MIM number | Simbolo del Gen | Nombre del Gen |
| Heart block, nonprogressive | 113900 | SCN5A | sodium channel, voltage-gated, type V, alpha subunit |
| Heart block, progressive, type IA | 113900 | SCN5A | sodium channel, voltage-gated, type V, alpha subunit |
| Heart-hand syndrome, Slovenian type | 610140 | LMNA | lamin A/C |
| Heinz body | |||
| Heinz body anemia | 140700 | HBA2 | hemoglobin, alpha 2 |
| Heinz body anemias, beta- | 140700 | HBB | hemoglobin, beta |
| Hemangioblastoma, cerebellar, somatic | VHL | von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase | |
| Hemochromatosis | 235200 | HFE | hemochromatosis |
| Hemoglobin H disease, nondeletional | 613978 | HBA2 | hemoglobin, alpha 2 |
| Hemophilia | |||
| Hemophilia A | 306700 | F8 | coagulation factor VIII, procoagulant component |
| Hemophilia B | 306900 | F9 | coagulation factor IX |
| Hemorrhage, intracerebral, susceptibility to | 614519 | COL4A1 | collagen, type IV, alpha 1 |
| Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh | 613490 | SERPINA1 | serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 |
| Hepatoblastoma, somatic | 114550 | APC | adenomatous polyposis coli |
| Hepatocellular carcinoma | 114550 | TP53 | tumor protein p53 |
| Hereditary motor and sensory neuropathy VI | 601152 | MFN2 | mitofusin 2 |
| Hereditary persistence of fetal hemoglobin | 141749 | HBB | hemoglobin, beta |
| Hex A pseudodeficiency | 272800 | HEXA | hexosaminidase A (alpha polypeptide) |
| Hirschsprung disease, susceptibility to, 1 | 142623 | RET | ret proto-oncogene |
| Holoprosencephaly-7 | 610828 | PTCH1 | patched 1 |
| Holt-Oram syndrome | 142900 | TBX5 | T-box 5 |
| Hoyeraal-Hreidarsson syndrome | 300240 | DKC1 | dyskeratosis congenita 1, dyskerin |
| Hutchinson-Gilford progeria | 176670 | LMNA | lamin A/C |
| Hydrocephalus due to aqueductal stenosis | 307000 | L1CAM | L1 cell adhesion molecule |
| Hydrocephalus with congenital idiopathic intestinal pseudoobstruction | 307000 | L1CAM | L1 cell adhesion molecule |
| Hydrocephalus with Hirschsprung disease | 307000 | L1CAM | L1 cell adhesion molecule |
| Hyperphenylalaninemia, non-PKU mild | 261600 | PAH | phenylalanine hydroxylase |
| Hypertrichotic osteochondrodysplasia | 239850 | ABCC9 | ATP-binding cassette, sub-family C (CFTR/MRP), member 9 |
| Hypertrypsinemia, neonatal | CFTR | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) | |
| Hypochondroplasia | 146000 | FGFR3 | fibroblast growth factor receptor 3 |
| Hypochromic microcytic anemia | HBA2 | hemoglobin, alpha 2 | |
| Hypogonadotropic hypogonadism | |||
| Hypogonadotropic hypogonadism 2 with or without anosmia | 147950 | FGFR1 | fibroblast growth factor receptor 1 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 612370 | CHD7 | chromodomain helicase DNA binding protein 7 |
| Hypophosphatasia, adult | 146300 | ALPL | alkaline phosphatase, liver/bone/kidney |
| Hypophosphatasia, childhood | 241510 | ALPL | alkaline phosphatase, liver/bone/kidney |
| Hypophosphatasia, infantile | 241500 | ALPL | alkaline phosphatase, liver/bone/kidney |
| Hypoplastic left heart syndrome 2 | 614435 | NKX2-5 | NK2 homeobox 5 |
| Hypothyroidism, congenital nongoitrous, 5 | 225250 | NKX2-5 | NK2 homeobox 5 |
| Hypotrichosis, hereditary, Marie Unna type, 1 | 146550 | HR | hair growth associated |
| Hystrix-like ichthyosis with deafness | 602540 | GJB2 | gap junction protein, beta 2, 26kDa |
| Inclusion body myopathy, autosomal recessive | 600737 | GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
| Insensitivity to pain, channelopathy-associated | 243000 | SCN9A | sodium channel, voltage-gated, type IX, alpha subunit |
| IVIC syndrome | 147750 | SALL4 | sal-like 4 (Drosophila) |
