Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.120 GeneticVariation disease BEFREE The sun-sensitive form of the severe neurodevelopmental, brittle hair disorder trichothiodystrophy (TTD) is caused by point mutations in the essential XPB and XPD helicase subunits of the dual functional DNA repair/basal transcription factor TFIIH. 9651581 1998
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.120 GeneticVariation disease BEFREE Besides XP, mutations in XPD can cause another seemingly unrelated syndrome, trichothiodystrophy (TTD), characterized by sulfur-deficient brittle hair, ichthyosis, and physical and mental retardation. 7629061 1995
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.120 Biomarker disease HPO