Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
0.130 GeneticVariation disease BEFREE The frame shift mutation of ERCC6 found in this patient is a novel one, which caused postnatal growth failure and early death. 30113454 2018
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
0.130 GeneticVariation disease BEFREE Mutations in ERCC6 are associated with growth failure, intellectual disability, neurological dysfunction and deterioration, premature aging, and photosensitivity. 25251875 2014
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
0.130 GeneticVariation disease BEFREE CSB is very often found mutated in Cockayne syndrome, a segmental progeroid genetic disease characterized by organ degeneration and growth failure. 22383384 2012
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
0.130 Biomarker disease HPO