rs748379243, ERCC8

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cockayne Syndrome, Type I
CUI: C0751039
Disease: Cockayne Syndrome, Type I
0.700 CausalMutation CLINVAR
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
0.700 CausalMutation CLINVAR
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
0.700 CausalMutation CLINVAR
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
0.700 CausalMutation CLINVAR
Growth delay
CUI: C0456070
Disease: Growth delay
0.700 CausalMutation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 CausalMutation CLINVAR