Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.550 GermlineCausalMutation ORPHANET This study reports SOX10 loss-of-function mutations in approximately one-third of KS individuals with deafness, indicating a substantial involvement in this clinical condition. 23643381

2013