Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086543
Disease: Cataract
Cataract
0.120 GeneticVariation disease BEFREE New mutation in the mouse Xpd/Ercc2 gene leads to recessive cataracts. 25951169 2015
CUI: C0086543
Disease: Cataract
Cataract
0.120 Biomarker disease BEFREE Various combinations of the keywords and MeSH terms were used to screen for potentially relevant studies, specifically "genetic polymorphisms" or "SNPs" or "variation" or "single nucleotide polymorphism" or "polymorphism" or "mutation" or "variant"; "X-ray repair cross complementing protein 1" or "Xeroderma Pigmentosum Group D Protein" or "X-ray repair cross complementing protein 1" or "Xeroderma Pigmentosum Group D Protein" or "XPD" or "Xeroderma Pigmentosum Complementation Group D Protein" or "ERCC2" or "XRCC1" or "XRCC1 DNA repair protein"; and "Cataract" or " Membranous Cataract" or " Pseudoaphakia." 25873778 2015
CUI: C0086543
Disease: Cataract
Cataract
0.120 Biomarker disease HPO