AC-Gen Reading Life - Análisis Genéticos avanzados

  • Inicio
  • Profesionales
    • Enfermedades Mendelianas
    • Cáncer Hereditario
    • Microbiología
    • Proyectos de investigación
    • Solicitud Estudio
  • Usuarios
    • Conoce tu riesgo
  • FAQ
  • Nosotros
    • Equipo
    • Comité Científico
    • Alianzas y colaboraciones
    • I+D+i
    • Noticias
  • Contacto

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
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
Powered by Create your own unique website with customizable templates.