rs121917904, ERCC6

N. diseases: 2
Disease: De Sanctis-Cacchione syndrome ×
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 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399 2016
De Sanctis-Cacchione syndrome
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
0.700 CausalMutation CLINVAR Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. 18628313 2008