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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| Enfermedad/Phenotype | Phenotype MIM number | Simbolo del Gen | Nombre del Gen |
| Danon disease | 300257 | LAMP2 | lysosomal-associated membrane protein 2 |
| Darier disease | 124200 | ATP2A2 | ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 |
| Deafness | |||
| Deafness, autosomal dominant 11 | 601317 | MYO7A | myosin VIIA |
| Deafness, autosomal dominant 13 | 601868 | COL11A2 | collagen, type XI, alpha 2 |
| Deafness, autosomal dominant 23 | 605192 | SIX1 | SIX homeobox 1 |
| Deafness, autosomal dominant 2A | 600101 | KCNQ4 | potassium voltage-gated channel, KQT-like subfamily, member 4 |
| Deafness, autosomal dominant 2B | 612644 | GJB3 | gap junction protein, beta 3, 31kDa |
| Deafness, autosomal dominant 3A | 601544 | GJB2 | gap junction protein, beta 2, 26kDa |
| Deafness, autosomal dominant 3B | 612643 | GJB6 | gap junction protein, beta 6, 30kDa |
| Deafness, autosomal dominant, with peripheral neuropathy | GJB3 | gap junction protein, beta 3, 31kDa | |
| Deafness, autosomal recessive | GJB3 | gap junction protein, beta 3, 31kDa | |
| Deafness, autosomal recessive 12 | 601386 | CDH23 | cadherin-related 23 |
| Deafness, autosomal recessive 18A | 602092 | USH1C | Usher syndrome 1C (autosomal recessive, severe) |
| Deafness, autosomal recessive 1A | 220290 | GJB2 | gap junction protein, beta 2, 26kDa |
| Deafness, autosomal recessive 1B | 612645 | GJB6 | gap junction protein, beta 6, 30kDa |
| Deafness, autosomal recessive 2 | 600060 | MYO7A | myosin VIIA |
| Deafness, autosomal recessive 23 | 609533 | PCDH15 | protocadherin-related 15 |
| Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | 600791 | SLC26A4 | solute carrier family 26, member 4 |
| Deafness, autosomal recessive 53 | 609706 | COL11A2 | collagen, type XI, alpha 2 |
| Deafness, congenital heart defects, and posterior embryotoxon | JAG1 | jagged 1 | |
| Deafness, digenic GJB2/GJB6 | 220290 | GJB6 | gap junction protein, beta 6, 30kDa |
| Deafness, digenic, GJB2/GJB3 | 220290 | GJB3 | gap junction protein, beta 3, 31kDa |
| Deep venous thrombosis, protection against | 300807 | F9 | coagulation factor IX |
| Dejerine-Sottas disease | |||
| Dejerine-Sottas disease | 145900 | PMP22 | peripheral myelin protein 22 |
| Dejerine-Sottas disease | 145900 | MPZ | myelin protein zero |
| Delta-beta thalassemia | 141749 | HBB | hemoglobin, beta |
| Dementia | |||
| Dementia, frontotemporal | 600274 | PSEN1 | presenilin 1 |
| Dementia, frontotemporal, with or without parkinsonism | 600274 | MAPT | microtubule-associated protein tau |
| Dementia, Lewy body | 127750 | SNCA | synuclein, alpha (non A4 component of amyloid precursor) |
| Dent disease 2 | 300555 | OCRL | oculocerebrorenal syndrome of Lowe |
| Denys-Drash syndrome | 194080 | WT1 | Wilms tumor 1 |
| Dermatopathia pigmentosa reticularis | 125595 | KRT14 | keratin 14 |
| Desmoid disease, hereditary | 135290 | APC | adenomatous polyposis coli |
| Diamond-Blackfan | |||
| Diamond-Blackfan anemia 1 | 105650 | RPS19 | ribosomal protein S19 |
| Diamond-Blackfan anemia 10 | 613309 | RPS26 | ribosomal protein S26 |
| Diamond-blackfan anemia 3 | 610629 | RPS24 | ribosomal protein S24 |
| Diamond-Blackfan anemia 5 | 612528 | RPL35A | ribosomal protein L35a |
| Diamond-Blackfan anemia 7 | 612562 | RPL11 | ribosomal protein L11 |
| Diamond-Blackfan anemia 8 | 612563 | RPS7 | ribosomal protein S7 |
| Diamond-Blackfan anemia 9 | 613308 | RPS10 | ribosomal protein S10 |
| Dihydrolipoamide dehydrogenase deficiency | 246900 | DLD | dihydrolipoamide dehydrogenase |
| Dilated cardiomyopathy with woolly hair and keratoderma | 605676 | DSP | desmoplakin |
| Double Cortex Syndrome | DCX | doublecortin | |
| Dowling-Degos disease | 179850 | KRT5 | keratin 5 |
| Dravet syndrome, modifier of | 607208 | SCN9A | sodium channel, voltage-gated, type IX, alpha subunit |
| Du Pan syndrome | 228900 | GDF5 | growth differentiation factor 5 |
| Duane-radial ray syndrome | 607323 | SALL4 | sal-like 4 (Drosophila) |
| Duchenne muscular dystrophy | 310200 | DMD | dystrophin |
| Dysautonomia, familial | 223900 | IKBKAP | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein |
| Dyskeratosis congenita, X-linked | 305000 | DKC1 | dyskeratosis congenita 1, dyskerin |
| Dystonia-Parkinsonism, X-linked | 314250 | TAF1 | TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa |
| Dystransthyretinemic hyperthyroxinemia | 145680 | TTR | transthyretin |
