rs397515415, HDAC8

N. diseases: 10
Disease: CORNELIA DE LANGE SYNDROME 5 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CORNELIA DE LANGE SYNDROME 5
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CORNELIA DE LANGE SYNDROME 5
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
0.700 CausalMutation CLINVAR HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. 22885700 2012