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POMT2

protein O-mannosyltransferase 2

gene with protein productOMIM: 6074395 заболеваний
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)4
POMT2-related limb-girdle muscular dystrophy R14ORPHA:206559
→
Congenital muscular dystrophy with cerebellar involvementORPHA:370959
→
Congenital muscular dystrophy with intellectual disabilityORPHA:370968
→
Muscle-eye-brain diseaseORPHA:588
→
Disease-causing germline mutation(s) (loss of function) in1
Walker-Warburg syndromeORPHA:899
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Данные: Orphadata (CC-BY-4.0)