SIX3, SIX homeobox 3, 6496

N. diseases: 117; N. variants: 14
Disease: Holoprosencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Mutations in SIX3 result in more severe HPE than in other cases of non-chromosomal, non-syndromic HPE. 19346217 2009
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 Biomarker disease CTD_human Mutational analysis has identified four different mutations in the homeodomain of SIX3 that are predicted to interfere with transcriptional activation and are associated with HPE. 10369266 1999
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 Biomarker disease LHGDN These data suggest a direct link between Six3 and Shh regulation during normal forebrain development and in the pathogenesis of HPE. 18836447 2008
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease LHGDN First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations. 15635066 2005
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease LHGDN Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. 15221788 2004
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 Biomarker disease HPO
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 Biomarker disease GENOMICS_ENGLAND