Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.520 GermlineCausalMutation ORPHANET In this work, we identify biallelic rare, predicted-deleterious ARMC9 variants (stop-gain, missense, splice-site, and single-exon deletion) in 11 individuals with JS from 8 families, accounting for approximately 1% of the disorder. 28625504

2017