SIX3, SIX homeobox 3, 6496

N. diseases: 117; N. variants: 14
Disease: HOLOPROSENCEPHALY 2 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		0.920 Biomarker disease GENOMICS_ENGLAND A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum. 21976454 2011
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		0.920 GeneticVariation disease UNIPROT The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. 20531442 2010
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		0.920 GeneticVariation disease UNIPROT Mutations in the human SIX3 gene in holoprosencephaly are loss of function. 18791198 2008
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		0.920 Biomarker disease GENOMICS_ENGLAND Mutations in the human SIX3 gene in holoprosencephaly are loss of function. 18791198 2008
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		0.920 Biomarker disease MGD Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly. 18694563 2008
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		0.920 GeneticVariation disease UNIPROT SIX3 mutations with holoprosencephaly. 17001667 2006
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		0.920 GeneticVariation disease UNIPROT Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1. 15523651 2004
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		0.920 GeneticVariation disease UNIPROT 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: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		0.920 Biomarker disease MGD Six3 repression of Wnt signaling in the anterior neuroectoderm is essential for vertebrate forebrain development. 12569128 2003
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		0.920 Biomarker disease BEFREE Large heterozygous deletions associated with human holoprosencephaly type 2 have been previously mapped to 2p21, opening the possibility that SIX3 could be involved in the development of midline structures of the head. 10415461 1999
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		0.920 Biomarker disease GENOMICS_ENGLAND Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. 10369266 1999
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		0.920 GeneticVariation disease UNIPROT Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. 10369266 1999
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		0.920 AlteredExpression disease BEFREE However, embryonic SIX3 expression is not limited to the eye field, and SIX3 has been found to be mutated in some patients with holoprosencephaly type 2 (HPE2), suggesting that SIX3 has wide implications in head development. 10512683 1999
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		0.920 Biomarker disease CTD_human
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		0.920 Biomarker disease GENOMICS_ENGLAND
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		0.920 Biomarker disease GENOMICS_ENGLAND
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		0.920 CausalMutation disease CLINVAR