SIX3, SIX homeobox 3, 6496

N. diseases: 117; N. variants: 14
Disease: Spindle cell hemangioma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1304508
Disease: Spindle cell hemangioma
Spindle cell hemangioma 		0.010 GeneticVariation disease BEFREE We therefore considered holoprosencephaly (HPE)-associated genes as potential SCH candidates and report for the first time heterozygous mutations in SIX3 and SHH in a total of three unrelated patients and one fetus with SCH; one of them without obvious associated malformations of midline forebrain structures. 20157829 2010