GBA2 — glucosylceramidase beta 2 | MEDLIB

gene with protein productOMIM: 6094712 заболевания

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Disease-causing germline mutation(s) (loss of function) in2

Autosomal recessive spastic paraplegia type 46ORPHA:320391

Autosomal recessive cerebellar ataxia with late-onset spasticityORPHA:352641

gene with protein productOMIM: 6094712 заболевания

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Disease-causing germline mutation(s) (loss of function) in2

Autosomal recessive spastic paraplegia type 46ORPHA:320391

Autosomal recessive cerebellar ataxia with late-onset spasticityORPHA:352641