Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
0.920 Biomarker disease GENOMICS_ENGLAND A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum. 21976454 2011
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
0.920 GeneticVariation disease UNIPROT The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. 20531442 2010
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
0.920 GeneticVariation disease UNIPROT Mutations in the human SIX3 gene in holoprosencephaly are loss of function. 18791198 2008
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
0.920 Biomarker disease GENOMICS_ENGLAND Mutations in the human SIX3 gene in holoprosencephaly are loss of function. 18791198 2008
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
0.920 Biomarker disease MGD Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly. 18694563 2008
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
0.920 GeneticVariation disease UNIPROT SIX3 mutations with holoprosencephaly. 17001667 2006
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
0.920 GeneticVariation disease UNIPROT Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1. 15523651 2004
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
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
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
0.920 Biomarker disease MGD Six3 repression of Wnt signaling in the anterior neuroectoderm is essential for vertebrate forebrain development. 12569128 2003
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
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
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
0.920 Biomarker disease GENOMICS_ENGLAND Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. 10369266 1999
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
0.920 GeneticVariation disease UNIPROT Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. 10369266 1999
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
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
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
0.920 Biomarker disease CTD_human
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
0.920 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
0.920 CausalMutation disease CLINVAR
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
0.100 CausalMutation disease CLINVAR