rs397515415, HDAC8

N. diseases: 10
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
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 CausalMutation CLINVAR
Accessory nipple
CUI: C0266011
Disease: Accessory nipple
0.700 CausalMutation CLINVAR
Anus, Imperforate
CUI: C0003466
Disease: Anus, Imperforate
0.700 CausalMutation CLINVAR
Acid reflux
CUI: C4317146
Disease: Acid reflux
0.700 CausalMutation CLINVAR
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
0.700 CausalMutation CLINVAR
Arachnoid Cysts
CUI: C0078981
Disease: Arachnoid Cysts
0.700 CausalMutation CLINVAR
Atrioventricular Septal Defect
CUI: C1389018
Disease: Atrioventricular Septal Defect
0.700 CausalMutation CLINVAR
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
0.700 CausalMutation CLINVAR