NCOR1, nuclear receptor corepressor 1, 9611

N. diseases: 94; N. variants: 9
Disease: Cleft palate, isolated ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.010 Biomarker disease BEFREE We further suggest that bifid uvula, a micro form of cleft palate, may well be causally related to de novo NCOR1 haploinsufficiency, in that a previously reported deletion mapping study of atypical Smith-Magenis syndrome patients with large deletions and cleft palate identified that NCOR1, the only loss-of-function-intolerant gene within the region, is located in the smallest region of overlap. 30289594 2018