rs786205172, ERCC6

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
De Sanctis-Cacchione syndrome
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
0.700 GeneticVariation CLINVAR Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879 1998
Cockayne Syndrome, Type II
CUI: C0751038
Disease: Cockayne Syndrome, Type II
0.700 GeneticVariation CLINVAR Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879 1998
Cerebrooculofacioskeletal Syndrome 1
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
0.700 GeneticVariation CLINVAR Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879 1998
Cockayne Syndrome, Type II
CUI: C0751038
Disease: Cockayne Syndrome, Type II
0.700 CausalMutation CLINVAR