SIX3, SIX homeobox 3, 6496

N. diseases: 117; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266484
Disease: Schizencephaly
Schizencephaly
0.610 GeneticVariation disease UNIPROT 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
CUI: C0266484
Disease: Schizencephaly
Schizencephaly
0.610 GeneticVariation disease BEFREE Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. 20157829 2010
CUI: C0266484
Disease: Schizencephaly
Schizencephaly
0.610 Biomarker disease GENOMICS_ENGLAND Mutations in the human SIX3 gene in holoprosencephaly are loss of function. 18791198 2008
CUI: C0266484
Disease: Schizencephaly
Schizencephaly
0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C0266484
Disease: Schizencephaly
Schizencephaly
0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C0266484
Disease: Schizencephaly
Schizencephaly
0.610 Biomarker disease HPO
CUI: C0266484
Disease: Schizencephaly
Schizencephaly
0.610 CausalMutation disease CLINVAR