UBE2A, ubiquitin conjugating enzyme E2 A, 7319

N. diseases: 96; N. variants: 5
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		0.110 Biomarker disease BEFREE UBE2A deficiency is a syndromic condition of X-linked intellectual disability (ID) characterized by typical dysmorphic features that include synophrys, prominent supraorbital ridges, almond-shaped, and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, micropenis, and onychodystrophy. 29283210 2018
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		0.110 Biomarker disease HPO