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 |
| LADD syndrome | 149730 | FGFR3 | fibroblast growth factor receptor 3 |
| Laing distal myopathy | 160500 | MYH7 | myosin, heavy chain 7, cardiac muscle, beta |
| Leber congenital amaurosis | |||
| Leber congenital amaurosis 1 | 204000 | GUCY2D | guanylate cyclase 2D, membrane (retina-specific) |
| Leber congenital amaurosis 10 | 611755 | CEP290 | centrosomal protein 290kDa |
| Leber congenital amaurosis 11 | 613837 | IMPDH1 | IMP (inosine 5'-monophosphate) dehydrogenase 1 |
| Leber congenital amaurosis 13 | 612712 | RDH12 | retinol dehydrogenase 12 (all-trans/9-cis/11-cis) |
| Leber congenital amaurosis 14 | 613341 | LRAT | lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) |
| Leber congenital amaurosis 15 | 613843 | TULP1 | tubby like protein 1 |
| Leber congenital amaurosis 2 | 204100 | RPE65 | retinal pigment epithelium-specific protein 65kDa |
| Leber congenital amaurosis 3 | 604232 | SPATA7 | spermatogenesis associated 7 |
| Leber congenital amaurosis 4 | 604393 | AIPL1 | aryl hydrocarbon receptor interacting protein-like 1 |
| Leber congenital amaurosis 6 | 613826 | RPGRIP1 | retinitis pigmentosa GTPase regulator interacting protein 1 |
| Leber congenital amaurosis 7 | 613829 | CRX | cone-rod homeobox |
| Leber congenital amaurosis 8 | 613835 | CRB1 | crumbs homolog 1 (Drosophila) |
| Left ventricular noncompaction | |||
| Left ventricular noncompaction 3, with or without dilated cardiomyopathy | 601493 | LDB3 | LIM domain binding 3 |
| Left ventricular noncompaction 4 | 613424 | ACTC1 | actin, alpha, cardiac muscle 1 |
| Left ventricular noncompaction 5 | 613426 | MYH7 | myosin, heavy chain 7, cardiac muscle, beta |
| Left ventricular noncompaction 6 | 601494 | TNNT2 | troponin T type 2 (cardiac) |
| Legg-Calve-Perthes disease | 150600 | COL2A1 | collagen, type II, alpha 1 |
| LEOPARD | |||
| LEOPARD syndrome 1 | 151100 | PTPN11 | protein tyrosine phosphatase, non-receptor type 11 |
| LEOPARD syndrome 2 | 611554 | RAF1 | v-raf-1 murine leukemia viral oncogene homolog 1 |
| Leukemia | |||
| Leukemia, acute myelogenous | KRAS | v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog | |
| Leukemia, acute myeloid | 601626 | NSD1 | nuclear receptor binding SET domain protein 1 |
| Leukemia, juvenile myelomonocytic | 607785 | NF1 | neurofibromin 1 |
| Leukemia, juvenile myelomonocytic | 607785 | PTPN11 | protein tyrosine phosphatase, non-receptor type 11 |
| Lewy body dementia, susceptibility to | 127750 | GBA | glucosidase, beta, acid |
| Li-Fraumeni syndrome | |||
| Li-Fraumeni syndrome | 609265 | CHEK2 | checkpoint kinase 2 |
| Li-Fraumeni syndrome | 151623 | TP53 | tumor protein p53 |
| Lipodystrophy, familial partial, 2 | 151660 | LMNA | lamin A/C |
| Lipoma, somatic | MEN1 | multiple endocrine neoplasia I | |
| Lissencephaly | |||
| Lissencephaly 1 | 607432 | PAFAH1B1 | platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) |
| Lissencephaly, X-linked | 300067 | DCX | doublecortin |
| Loeys-Dietz syndrome | |||
| Loeys-Dietz syndrome, type 1A | 609192 | TGFBR1 | transforming growth factor, beta receptor 1 |
| Loeys-Dietz syndrome, type 1B | 610168 | TGFBR2 | transforming growth factor, beta receptor II (70/80kDa) |
| Loeys-Dietz syndrome, type 2A | 608967 | TGFBR1 | transforming growth factor, beta receptor 1 |
| Loeys-Dietz syndrome, type 2B | 610380 | TGFBR2 | transforming growth factor, beta receptor II (70/80kDa) |
| Loeys-Dietz syndrome, type 3 | 613795 | SMAD3 | SMAD family member 3 |
| Long QT syndrome | |||
| Long QT syndrome 1, acquired, susceptibility to | 192500 | KCNQ1 | potassium voltage-gated channel, KQT-like subfamily, member 1 |
| Long QT syndrome 12 | 612955 | SNTA1 | syntrophin, alpha 1 |
| Long QT syndrome-1 | 192500 | KCNQ1 | potassium voltage-gated channel, KQT-like subfamily, member 1 |
| Long QT syndrome-10 | 611819 | SCN4B | sodium channel, voltage-gated, type IV, beta subunit |
| Long QT syndrome-11 | 611820 | AKAP9 | A kinase (PRKA) anchor protein (yotiao) 9 |
| Long QT syndrome-2 | 613688 | KCNH2 | potassium voltage-gated channel, subfamily H (eag-related), member 2 |
| Long QT syndrome-2, acquired, susceptibility to | 613688 | KCNH2 | potassium voltage-gated channel, subfamily H (eag-related), member 2 |
| Long QT syndrome-3 | 603830 | SCN5A | sodium channel, voltage-gated, type V, alpha subunit |
| Long QT syndrome-4 | 600919 | ANK2 | ankyrin 2, neuronal |
| Long QT syndrome-5 | 613695 | KCNE1 | potassium voltage-gated channel, Isk-related family, member 1 |
| Long QT syndrome-6 | 613693 | KCNE2 | potassium voltage-gated channel, Isk-related family, member 2 |
| Long QT syndrome-9 | 611818 | CAV3 | caveolin 3 |
| Lowe syndrome | 309000 | OCRL | oculocerebrorenal syndrome of Lowe |
| Lujan-Fryns syndrome | 309520 | MED12 | mediator complex subunit 12 |
| Lumbar disc herniation, susceptibility to | 603932 | COL11A1 | collagen, type XI, alpha 1 |
| Lymphangioleiomyomatosis | 606690 | TSC1 | tuberous sclerosis 1 |
