UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		0.010 Biomarker disease BEFREE These results demonstrate that UBE3A plays a role in MC1R transcriptional regulation which can contribute to the development of hypopigmentation in AS patients. 21733131 2011