ALDH18A1 — aldehyde dehydrogenase 18 family member A1 | MEDLIB

gene with protein productOMIM: 1382505 заболеваний

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Disease-causing germline mutation(s) (loss of function) in3

Autosomal dominant spastic paraplegia type 9BORPHA:447757

Autosomal dominant spastic paraplegia type 9AORPHA:447753

Autosomal recessive spastic paraplegia type 9BORPHA:447760

Герминативная мутация (причина)2

ALDH18A1-related De Barsy syndromeORPHA:35664

Autosomal dominant cutis laxaORPHA:90348

gene with protein productOMIM: 1382505 заболеваний

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Disease-causing germline mutation(s) (loss of function) in3

Autosomal dominant spastic paraplegia type 9BORPHA:447757

Autosomal dominant spastic paraplegia type 9AORPHA:447753

Autosomal recessive spastic paraplegia type 9BORPHA:447760

Герминативная мутация (причина)2

ALDH18A1-related De Barsy syndromeORPHA:35664

Autosomal dominant cutis laxaORPHA:90348