SOX3, SRY-box transcription factor 3, 6658

N. diseases: 151; N. variants: 5
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		0.300 GermlineCausalMutation disease ORPHANET X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3. 21636067 2011