Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5119
Gene Symbol: CHMP1A
CHMP1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. 23023333

2012
Entrez Id: 5119
Gene Symbol: CHMP1A
CHMP1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins. 11559748

2001
Entrez Id: 5119
Gene Symbol: CHMP1A
CHMP1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR CHMP1 is a novel nuclear matrix protein affecting chromatin structure and cell-cycle progression. 11559747

2001