Congenital disorder of deglycosylation

Disease Term Disease ID Gene Symbol Classification References Source
CONGENITAL DISORDER OF DEGLYCOSYLATION 1
615273MONDO:0800044OMIM:615273
NGLY1 Causal
24651605
CTD ClinGen ClinVar GWAS catalog HPO
CONGENITAL DISORDER OF DEGLYCOSYLATION 2
619775C5676931MONDO:0030770
MAN2C1 Causal
35045343
ClinGen ClinVar Disgenet GWAS catalog HPO
NEIL1 Unknown — Disgenet