FMR1 — fragile X messenger ribonucleoprotein 1 | MEDLIB

gene with protein productOMIM: 3095504 заболевания

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Disease-causing germline mutation(s) (loss of function) in1

Fragile X syndromeORPHA:908

Роль в фенотипе1

Xq27.3q28 duplication syndromeORPHA:261483

Disease-causing germline mutation(s) (gain of function) in1

Fragile X-associated tremor/ataxia syndromeORPHA:93256

Герминативная мутация (причина)1

Fragile X-associated primary ovarian insufficiencyORPHA:642691

gene with protein productOMIM: 3095504 заболевания

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Disease-causing germline mutation(s) (loss of function) in1

Fragile X syndromeORPHA:908

Роль в фенотипе1

Xq27.3q28 duplication syndromeORPHA:261483

Disease-causing germline mutation(s) (gain of function) in1

Fragile X-associated tremor/ataxia syndromeORPHA:93256

Герминативная мутация (причина)1

Fragile X-associated primary ovarian insufficiencyORPHA:642691