Índice de enfermedades genéticas ofrecidas por AC Gen Reading Life
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Busca la enfermedad o gen a estudiar (Recomendable en inglés) |
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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 |
| EBD inversa | 226600 | COL7A1 | collagen, type VII, alpha 1 |
| EBD, Bart type | 132000 | COL7A1 | collagen, type VII, alpha 1 |
| EBD, localisata variant | COL7A1 | collagen, type VII, alpha 1 | |
| Ectodermal dysplasia 2, Clouston type | 129500 | GJB6 | gap junction protein, beta 6, 30kDa |
| Ectopia lentis, familial | 129600 | FBN1 | fibrillin 1 |
| Ehlers-Danlos syndrome | |||
| Ehlers-Danlos syndrome, autosomal dominant, hypermobility type | 130020 | TNXB | tenascin XB |
| Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency | 606408 | TNXB | tenascin XB |
| Ehlers-Danlos syndrome, cardiac valvular form | 225320 | COL1A2 | collagen, type I, alpha 2 |
| Ehlers-Danlos syndrome, type I | 130000 | COL5A1 | collagen, type V, alpha 1 |
| Ehlers-Danlos syndrome, type I | 130000 | COL5A2 | collagen, type V, alpha 2 |
| Ehlers-Danlos syndrome, type I | 130000 | COL1A1 | collagen, type I, alpha 1 |
| Ehlers-Danlos syndrome, type II | 130010 | COL5A1 | collagen, type V, alpha 1 |
| Ehlers-Danlos syndrome, type III | 130020 | COL3A1 | collagen, type III, alpha 1 |
| Ehlers-Danlos syndrome, type IV | 130050 | COL3A1 | collagen, type III, alpha 1 |
| Ehlers-Danlos syndrome, type VI | 225400 | PLOD1 | procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
| Ehlers-Danlos syndrome, type VIIA | 130060 | COL1A1 | collagen, type I, alpha 1 |
| Ehlers-Danlos syndrome, type VIIB | 130060 | COL1A2 | collagen, type I, alpha 2 |
| Emery-Dreifuss muscular dystrophy | |||
| Emery-Dreifuss muscular dystrophy 1, X-linked | 310300 | EMD | emerin |
| Emery-Dreifuss muscular dystrophy 2, AD | 181350 | LMNA | lamin A/C |
| Emery-Dreifuss muscular dystrophy 3, AR | 181350 | LMNA | lamin A/C |
| Emery-Dreifuss muscular dystrophy 7, AD | 614302 | TMEM43 | transmembrane protein 43 |
| Emphysema due to AAT deficiency | 613490 | SERPINA1 | serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 |
| Emphysema-cirrhosis, due to AAT deficiency | 613490 | SERPINA1 | serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 |
| Encephalopathy, neonatal severe | 300673 | MECP2 | methyl CpG binding protein 2 (Rett syndrome) |
| Enhanced S-cone syndrome | 268100 | NR2E3 | nuclear receptor subfamily 2, group E, member 3 |
| Epidermal nevus, somatic | 162900 | NRAS | neuroblastoma RAS viral (v-ras) oncogene homolog |
| Epidermolysis bullosa | |||
| Epidermolysis bullosa dystrophica, AD | 131750 | COL7A1 | collagen, type VII, alpha 1 |
| Epidermolysis bullosa dystrophica, AR | 226600 | COL7A1 | collagen, type VII, alpha 1 |
| Epidermolysis bullosa of hands and feet | 131800 | ITGB4 | integrin, beta 4 |
| Epidermolysis bullosa pruriginosa | 604129 | COL7A1 | collagen, type VII, alpha 1 |
| Epidermolysis bullosa simplex with migratory circinate erythema | 609352 | KRT5 | keratin 5 |
| Epidermolysis bullosa simplex with mottled pigmentation | 131960 | KRT5 | keratin 5 |
| Epidermolysis bullosa simplex with pyloric atresia | 612138 | PLEC | plectin |
| Epidermolysis bullosa simplex, Dowling-Meara type | 131760 | KRT5 | keratin 5 |
| Epidermolysis bullosa simplex, Dowling-Meara type | 131760 | KRT14 | keratin 14 |
| Epidermolysis bullosa simplex, Koebner type | 131900 | KRT5 | keratin 5 |
| Epidermolysis bullosa simplex, Koebner type | 131900 | KRT14 | keratin 14 |
| Epidermolysis bullosa simplex, Ogna type | 131950 | PLEC | plectin |
| Epidermolysis bullosa simplex, recessive | 601001 | KRT14 | keratin 14 |
| Epidermolysis bullosa simplex, Weber-Cockayne type | 131800 | KRT5 | keratin 5 |
| Epidermolysis bullosa simplex, Weber-Cockayne type | 131800 | KRT14 | keratin 14 |
| Epidermolysis bullosa, junctional, Herlitz type | 226700 | LAMB3 | laminin, beta 3 |
| Epidermolysis bullosa, junctional, non-Herlitz type | 226650 | ITGB4 | integrin, beta 4 |
| Epidermolysis bullosa, junctional, non-Herlitz type | 226650 | LAMB3 | laminin, beta 3 |
| Epidermolysis bullosa, junctional, with pyloric atresia | 226730 | ITGB4 | integrin, beta 4 |
| Epidermolysis bullosa, lethal acantholytic | 609638 | DSP | desmoplakin |
| Epidermolysis bullosa, pretibial | 131850 | COL7A1 | collagen, type VII, alpha 1 |
| Epilepsy | |||
| Epilepsy, generalized, with febrile seizures plus, type 1 | 604233 | SCN1B | sodium channel, voltage-gated, type I, beta subunit |
| Epilepsy, generalized, with febrile seizures plus, type 7 | 613863 | SCN9A | sodium channel, voltage-gated, type IX, alpha subunit |
| Epiphyseal | |||
| Epiphyseal dysplasia, multiple, 6 | 614135 | COL9A1 | collagen, type IX, alpha 1 |
| Epiphyseal dysplasia, multiple, with myopia and deafness | 132450 | COL2A1 | collagen, type II, alpha 1 |
| Erebrotendinous xanthomatosis | 213700 | CYP27A1 | cytochrome P450, family 27, subfamily A, polypeptide 1 |
| Erythermalgia, primary | 133020 | SCN9A | sodium channel, voltage-gated, type IX, alpha subunit |
| Erythremias, beta- | HBB | hemoglobin, beta | |
| Erythrocytosis | HBA2 | hemoglobin, alpha 2 | |
| Erythrocytosis, familial, 2 | 263400 | VHL | von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase |
| Erythrokeratodermia variabilis et progressiva | 133200 | GJB3 | gap junction protein, beta 3, 31kDa |
| Exostoses, multiple, type 1 | 133700 | EXT1 | exostosin glycosyltransferase 1 |
