SIX3, SIX homeobox 3, 6496

N. diseases: 117; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917878
rs121917878
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
G 0.800 CausalMutation CLINVAR
dbSNP: rs121917879
rs121917879
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
C 0.800 CausalMutation CLINVAR
dbSNP: rs121917880
rs121917880
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
C 0.800 CausalMutation CLINVAR
dbSNP: rs137853021
rs137853021
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
T 0.800 CausalMutation CLINVAR
dbSNP: rs387906868
rs387906868
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C0266484
Disease:
Schizencephaly
T 0.800 CausalMutation CLINVAR
dbSNP: rs121917878
rs121917878
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1840528
Disease:
HOLOPROSENCEPHALY 4 (disorder)
G 0.700 CausalMutation CLINVAR
dbSNP: rs121917879
rs121917879
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1840529
Disease:
HOLOPROSENCEPHALY 3
C 0.700 CausalMutation CLINVAR
dbSNP: rs121917880
rs121917880
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1840529
Disease:
HOLOPROSENCEPHALY 3
C 0.700 CausalMutation CLINVAR
dbSNP: rs1553337688
rs1553337688
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
G 0.700 CausalMutation CLINVAR
dbSNP: rs1558420022
rs1558420022
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs387906867
rs387906867
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C0266484
Disease:
Schizencephaly
T 0.700 CausalMutation CLINVAR
dbSNP: rs387906867
rs387906867
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs397515502
rs397515502
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs62131236
rs62131236
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
CUI: C0021704
Disease:
Intelligence
0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
dbSNP: rs62131236
rs62131236
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
CUI: C0021704
Disease:
Intelligence
T 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
dbSNP: rs741813
rs741813
Entrez Id: 6496;100506108;107985879
Gene Symbol: SIX3;SIX3-AS1;LINC01833
SIX3;SIX3-AS1;LINC01833
CUI: C0596887
Disease:
mathematical ability
A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs121917878
rs121917878
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
0.800 GeneticVariation UNIPROT The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. 20531442 2010
dbSNP: rs121917878
rs121917878
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
0.800 GeneticVariation 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
dbSNP: rs121917878
rs121917878
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
0.800 GeneticVariation UNIPROT Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1. 15523651 2004
dbSNP: rs121917878
rs121917878
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
0.800 GeneticVariation UNIPROT Mutations in the human SIX3 gene in holoprosencephaly are loss of function. 18791198 2008
dbSNP: rs121917878
rs121917878
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
0.800 GeneticVariation UNIPROT Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. 10369266 1999
dbSNP: rs121917878
rs121917878
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
0.800 GeneticVariation UNIPROT SIX3 mutations with holoprosencephaly. 17001667 2006
dbSNP: rs121917879
rs121917879
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
0.800 GeneticVariation UNIPROT Mutations in the human SIX3 gene in holoprosencephaly are loss of function. 18791198 2008
dbSNP: rs121917879
rs121917879
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
0.800 GeneticVariation UNIPROT SIX3 mutations with holoprosencephaly. 17001667 2006
dbSNP: rs121917879
rs121917879
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
0.800 GeneticVariation UNIPROT The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. 20531442 2010