RHBDF2, rhomboid 5 homolog 2, 79651

N. diseases: 90; N. variants: 5
Disease: Leukoplakia, Oral ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023532
Disease: Leukoplakia, Oral
Leukoplakia, Oral 		0.300 Biomarker disease GENOMICS_ENGLAND RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. 22265016 2012
CUI: C0023532
Disease: Leukoplakia, Oral
Leukoplakia, Oral 		0.300 Biomarker disease GENOMICS_ENGLAND Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer. 22638770 2012