×
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