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 |
| Caffey disease | 114000 | COL1A1 | collagen, type I, alpha 1 |
| Campomelic dysplasia | 114290 | SOX9 | SRY (sex determining region Y)-box 9 |
| Campomelic dysplasia with autosomal sex reversal | 114290 | SOX9 | SRY (sex determining region Y)-box 9 |
| Canavan disease | 271900 | ASPA | aspartoacylase |
| Carcinoid tumor of lung | MEN1 | multiple endocrine neoplasia I | |
| Cardiac arrhythmia, ankyrin-B-related | 600919 | ANK2 | ankyrin 2, neuronal |
| Cardiac conduction defect, nonspecific | 612838 | SCN1B | sodium channel, voltage-gated, type I, beta subunit |
| Cardiofaciocutaneous syndrome | 115150 | KRAS | v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog |
| Cardiomyopathy (Dilated) | STARD3 | StAR-related lipid transfer (START) domain containing 3 | |
| Cardiomyopathy, dilated | 115200 | MYBPC3 | myosin binding protein C, cardiac |
| Cardiomyopathy, dilated 1C | 601493 | LDB3 | LIM domain binding 3 |
| Cardiomyopathy, dilated, 1A | 115200 | LMNA | lamin A/C |
| Cardiomyopathy, dilated, 1AA | 612158 | ACTN2 | actinin, alpha 2 |
| Cardiomyopathy, dilated, 1BB | 612877 | DSG2 | desmoglein 2 |
| Cardiomyopathy, dilated, 1D | 601494 | TNNT2 | troponin T type 2 (cardiac) |
| Cardiomyopathy, dilated, 1E | 601154 | SCN5A | sodium channel, voltage-gated, type V, alpha subunit |
| Cardiomyopathy, dilated, 1EE | 613252 | MYH6 | myosin, heavy chain 6, cardiac muscle, alpha |
| Cardiomyopathy, dilated, 1FF | 613286 | TNNI3 | troponin I type 3 (cardiac) |
| Cardiomyopathy, dilated, 1HH | 613881 | BAG3 | BCL2-associated athanogene 3 |
| Cardiomyopathy, dilated, 1I | 604765 | DES | desmin |
| Cardiomyopathy, dilated, 1L | 606685 | SGCD | sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) |
| Cardiomyopathy, dilated, 1O | 608569 | ABCC9 | ATP-binding cassette, sub-family C (CFTR/MRP), member 9 |
| Cardiomyopathy, dilated, 1P | 609909 | PLN | phospholamban |
| Cardiomyopathy, dilated, 1R | 613424 | ACTC1 | actin, alpha, cardiac muscle 1 |
| Cardiomyopathy, dilated, 1S | 613426 | MYH7 | myosin, heavy chain 7, cardiac muscle, beta |
| Cardiomyopathy, dilated, 1U | 613694 | PSEN1 | presenilin 1 |
| Cardiomyopathy, dilated, 1V | 613697 | PSEN2 | presenilin 2 (Alzheimer disease 4) |
| Cardiomyopathy, dilated, 1W | 611407 | VCL | vinculin |
| Cardiomyopathy, dilated, 1Y | 611878 | TPM1 | tropomyosin 1 (alpha) |
| Cardiomyopathy, dilated, 1Z | 611879 | TNNC1 | troponin C type 1 (slow) |
| Cardiomyopathy, dilated, 2A | 611880 | TNNI3 | troponin I type 3 (cardiac) |
| Cardiomyopathy, dilated, 3B | 302045 | DMD | dystrophin |
| Cardiomyopathy, familial | |||
| Cardiomyopathy, familial hypertrophic | 192600 | CAV3 | caveolin 3 |
| Cardiomyopathy, familial hypertrophic | 192600 | SLC25A4 | solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 |
| Cardiomyopathy, familial hypertrophic 6 | 600858 | PRKAG2 | protein kinase, AMP-activated, gamma 2 non-catalytic subunit |
| Cardiomyopathy, familial hypertrophic, 1 | 192600 | MYH7 | myosin, heavy chain 7, cardiac muscle, beta |
| Cardiomyopathy, familial hypertrophic, 10 | 608758 | MYL2 | myosin, light chain 2, regulatory, cardiac, slow |
| Cardiomyopathy, familial hypertrophic, 11 | 612098 | ACTC1 | actin, alpha, cardiac muscle 1 |
| Cardiomyopathy, familial hypertrophic, 13 | 613243 | TNNC1 | troponin C type 1 (slow) |
| Cardiomyopathy, familial hypertrophic, 14 | 613251 | MYH6 | myosin, heavy chain 6, cardiac muscle, alpha |
| Cardiomyopathy, familial hypertrophic, 15 | 613255 | VCL | vinculin |
| Cardiomyopathy, familial hypertrophic, 16 | 613838 | MYOZ2 | myozenin 2 |
| Cardiomyopathy, familial hypertrophic, 18 | 613874 | PLN | phospholamban |
| Cardiomyopathy, familial hypertrophic, 19 | 613875 | CALR3 | calreticulin 3 |
| Cardiomyopathy, familial hypertrophic, 2 | 115195 | TNNT2 | troponin T type 2 (cardiac) |
| Cardiomyopathy, familial hypertrophic, 3 | 115196 | TPM1 | tropomyosin 1 (alpha) |
| Cardiomyopathy, familial hypertrophic, 4 | 115197 | MYBPC3 | myosin binding protein C, cardiac |
| Cardiomyopathy, familial hypertrophic, 7 | 613690 | TNNI3 | troponin I type 3 (cardiac) |
| Cardiomyopathy, familial hypertrophic, 8 | 608751 | MYL3 | myosin, light chain 3, alkali; ventricular, skeletal, slow |
| Cardiomyopathy, familial restrictive | 115210 | TNNI3 | troponin I type 3 (cardiac) |
| Cardiomyopathy, familial restrictive, 3 | 612422 | TNNT2 | troponin T type 2 (cardiac) |
| Carpal tunnel syndrome, familial | 115430 | TTR | transthyretin |
| Cataract with late-onset corneal dystrophy | 106210 | PAX6 | paired box 6 |
| CATSHL syndrome | 610474 | FGFR3 | fibroblast growth factor receptor 3 |
| Central core disease | 117000 | RYR1 | ryanodine receptor 1 (skeletal) |
| Central hypoventilation syndrome, congenital | 209880 | RET | ret proto-oncogene |
| Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants | 605714 | APP | amyloid beta (A4) precursor protein |
| Ceroid lipofuscinosis, neuronal, 1 | 256730 | PPT1 | palmitoyl-protein thioesterase 1 |
| Charcot-Marie-Tooth | |||
| Charcot-Marie-Tooth disease, axonal, type 2M | 606482 | DNM2 | dynamin 2 |
| Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | DNM2 | dynamin 2 |
| Charcot-Marie-Tooth disease, dominant intermediate D | 607791 | MPZ | myelin protein zero |
| Charcot-Marie-Tooth disease, type 1A | 118220 | PMP22 | peripheral myelin protein 22 |
| Charcot-Marie-Tooth disease, type 1B | 118200 | MPZ | myelin protein zero |
| Charcot-Marie-Tooth disease, type 1E | 118300 | PMP22 | peripheral myelin protein 22 |
| Charcot-Marie-Tooth disease, type 2A2 | 609260 | MFN2 | mitofusin 2 |
| Charcot-Marie-Tooth disease, type 2B1 | 605588 | LMNA | lamin A/C |
| Charcot-Marie-Tooth disease, type 2I | 607677 | MPZ | myelin protein zero |
| Charcot-Marie-Tooth disease, type 2J | 607736 | MPZ | myelin protein zero |
| CHARGE syndrome | 214800 | CHD7 | chromodomain helicase DNA binding protein 7 |
| Cherubism | 118400 | SH3BP2 | SH3-domain binding protein 2 |
| Chondrodysplasia, Grebe type | 200700 | GDF5 | growth differentiation factor 5 |
| Chondrosarcoma | 215300 | EXT1 | exostosin glycosyltransferase 1 |
| Choriodal dystrophy, central areolar 2 | 613105 | PRPH2 | peripherin 2 (retinal degeneration, slow) |
| Choroid plexus papilloma | 260500 | TP53 | tumor protein p53 |
| Choroideremia | 303100 | CHM | choroideremia (Rab escort protein 1) |
| Ciliary dyskinesia | |||
| Ciliary dyskinesia, primary, 1, with or without situs inversus | 244400 | DNAI1 | dynein, axonemal, intermediate chain 1 |
| Ciliary dyskinesia, primary, 11 | 612649 | RSPH4A | radial spoke head 4 homolog A (Chlamydomonas) |
| Ciliary dyskinesia, primary, 12 | 612650 | RSPH9 | radial spoke head 9 homolog (Chlamydomonas) |
| Ciliary dyskinesia, primary, 14 | 613807 | CCDC39 | coiled-coil domain containing 39 |
| Ciliary dyskinesia, primary, 15 | 613808 | CCDC40 | coiled-coil domain containing 40 |
| Ciliary dyskinesia, primary, 3, with or without situs inversus | 608644 | DNAH5 | dynein, axonemal, heavy chain 5 |
| Ciliary dyskinesia, primary, 6 | 610852 | TXNDC3 | NME/NM23 family member 8 |
| Ciliary dyskinesia, primary, 7, with or without situs inversus | 611884 | DNAH11 | dynein, axonemal, heavy chain 11 |
| Ciliary dyskinesia, primary, 9, with or without situs inversus | 612444 | DNAI2 | dynein, axonemal, intermediate chain 2 |
| Ciliary Primary Dyskinesia | DNAH9 | dynein, axonemal, heavy chain 9 | |
| Citrullinemia, adult-onset type II | 603471 | SLC25A13 | solute carrier family 25 (aspartate/glutamate carrier), member 13 |
| Citrullinemia, type II, neonatal-onset | 605814 | SLC25A13 | solute carrier family 25 (aspartate/glutamate carrier), member 13 |
| Coffin-Lowry syndrome | 303600 | RPS6KA3 | ribosomal protein S6 kinase, 90kDa, polypeptide 3 |
| Coloboma of optic nerve | 120430 | PAX6 | paired box 6 |
| Coloboma, ocular | 120200 | PAX6 | paired box 6 |
| Colorectal cancer | 114500 | TP53 | tumor protein p53 |
| Colorectal cancer, hereditary nonpolyposis, type 1 | 120435 | MSH2 | mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 609310 | MLH1 | mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) |
| Colorectal cancer, hereditary nonpolyposis, type 6 | 614331 | TGFBR2 | transforming growth factor, beta receptor II (70/80kDa) |
| Combined cellular and humoral immune defects with granulomas | 233650 | RAG1 | recombination activating gene 1 |
| Combined cellular and humoral immune defects with granulomas | 233650 | RAG2 | recombination activating gene 2 |
| Combined immunodeficiency, X-linked, moderate | 312863 | IL2RG | interleukin 2 receptor, gamma |
| Complement component 4, partial deficiency of | 120790 | SERPING1 | serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 |
| Cone-rod dystrophy | |||
| Cone-rod dystrophy | 604393 | AIPL1 | aryl hydrocarbon receptor interacting protein-like 1 |
| Cone-rod dystrophy 10 | 610283 | SEMA4A | sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A |
| Cone-rod dystrophy 12 | 612657 | PROM1 | prominin 1 |
| Cone-rod dystrophy 13 | 608194 | RPGRIP1 | retinitis pigmentosa GTPase regulator interacting protein 1 |
| Cone-rod dystrophy 3 | 604116 | ABCA4 | ATP-binding cassette, sub-family A (ABC1), member 4 |
| Cone-rod dystrophy 6 | 601777 | GUCY2D | guanylate cyclase 2D, membrane (retina-specific) |
| Cone-rod dystrophy, X-linked, 1 | 304020 | RPGR | retinitis pigmentosa GTPase regulator |
| Cone-rod retinal dystrophy-2 | 120970 | CRX | cone-rod homeobox |
| Congenital bilateral absence of vas deferens | 277180 | CFTR | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
| Congenital cataracts, facial dysmorphism, and neuropathy | 604168 | CTDP1 | CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 |
| Congenital disorder of glycosylation, type Ia | 212065 | PMM2 | phosphomannomutase 2 |
| Conotruncal heart malformations, variable | 217095 | NKX2-5 | NK2 homeobox 5 |
| Cornelia de Lange syndrome 1 | 122470 | NIPBL | Nipped-B homolog (Drosophila) |
| Corpus callosum, partial agenesis of | 304100 | L1CAM | L1 cell adhesion molecule |
| Craniofacial-deafness-hand syndrome | 122880 | PAX3 | paired box 3 |
| Craniosynostosis, type 1 | 123100 | TWIST1 | twist basic helix-loop-helix transcription factor 1 |
| CRASH syndrome | 303350 | L1CAM | L1 cell adhesion molecule |
| Creatine phosphokinase, elevated serum | 123320 | CAV3 | caveolin 3 |
| Crouzon syndrome with acanthosis nigricans | 612247 | FGFR3 | fibroblast growth factor receptor 3 |
| Cutis laxa, AD | 123700 | ELN | elastin |
| Cystic fibrosis | 219700 | CFTR | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
| Cystinosis, atypical nephropathic | 219800 | CTNS | cystinosin, lysosomal cystine transporter |
| Cystinosis, late-onset juvenile or adolescent nephropathic | 219900 | CTNS | cystinosin, lysosomal cystine transporter |
| Cystinosis, nephropathic | 219800 | CTNS | cystinosin, lysosomal cystine transporter |
| Cystinosis, ocular nonnephropathic | 219750 | CTNS | cystinosin, lysosomal cystine transporter |
| Czech dysplasia | 609162 | COL2A1 | collagen, type II, alpha 1 |
