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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
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
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