Índice de enfermedades genéticas ofrecidas por AC Gen Reading Life
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Enfermedad/Phenotype | Phenotype MIM number | Simbolo del Gen | Nombre del Gen |
Galactosemia | 230400 | GALT | galactose-1-phosphate uridylyltransferase |
Gardner syndrome | APC | adenomatous polyposis coli | |
Gaucher disease, perinatal lethal | 608013 | GBA | glucosidase, beta, acid |
Gaucher disease, type I | 230800 | GBA | glucosidase, beta, acid |
Gaucher disease, type II | 230900 | GBA | glucosidase, beta, acid |
Gaucher disease, type III | 231000 | GBA | glucosidase, beta, acid |
Gaucher disease, type IIIC | 231005 | GBA | glucosidase, beta, acid |
Geleophysic dysplasia 2 | 614185 | FBN1 | fibrillin 1 |
Gillespie syndrome | 206700 | PAX6 | paired box 6 |
Glioma susceptibility 1 | 137800 | TP53 | tumor protein p53 |
Glycine encephalopathy | |||
Glycine encephalopathy | 605899 | AMT | aminomethyltransferase |
Glycine encephalopathy | 605899 | GCSH | glycine cleavage system protein H (aminomethyl carrier) |
Glycine encephalopathy | 605899 | GLDC | glycine dehydrogenase (decarboxylating) |
Glycogen storage | |||
Glycogen storage disease IV | 232500 | GBE1 | glucan (1,4-alpha-), branching enzyme 1 |
Glycogen storage disease of heart, lethal congenital | 261740 | PRKAG2 | protein kinase, AMP-activated, gamma 2 non-catalytic subunit |
GM2-gangliosidosis, several forms | 272800 | HEXA | hexosaminidase A (alpha polypeptide) |