DisGeNET - a database of gene-disease associations

HOLOPROSENCEPHALY 2 (disorder), C1834877

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121917878

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

20531442

2010

dbSNP:

rs121917879

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

20531442

2010

dbSNP:

rs121917880

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

20531442

2010

dbSNP:

rs137853021

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

20531442

2010

dbSNP:

rs121917878

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

Mutations in the human SIX3 gene in holoprosencephaly are loss of function.

18791198

2008

dbSNP:

rs121917879

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

Mutations in the human SIX3 gene in holoprosencephaly are loss of function.

18791198

2008

dbSNP:

rs121917880

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

Mutations in the human SIX3 gene in holoprosencephaly are loss of function.

18791198

2008

dbSNP:

rs137853021

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

Mutations in the human SIX3 gene in holoprosencephaly are loss of function.

18791198

2008

dbSNP:

rs121917878

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

SIX3 mutations with holoprosencephaly.

17001667

2006

dbSNP:

rs121917879

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

SIX3 mutations with holoprosencephaly.

17001667

2006

dbSNP:

rs121917880

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

SIX3 mutations with holoprosencephaly.

17001667

2006

dbSNP:

rs137853021

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

SIX3 mutations with holoprosencephaly.

17001667

2006

dbSNP:

rs121917878

SIX3 ; SIX3-AS1

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

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1.

15523651

2004

dbSNP:

rs121917879

SIX3 ; SIX3-AS1

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:

rs121917879

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1.

15523651

2004

dbSNP:

rs121917880

SIX3 ; SIX3-AS1

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:

rs121917880

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1.

15523651

2004

dbSNP:

rs137853021

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1.

15523651

2004

dbSNP:

rs137853021

SIX3 ; SIX3-AS1

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

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.

10369266

1999

dbSNP:

rs121917879

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.

10369266

1999

dbSNP:

rs121917880

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.

10369266

1999

dbSNP:

rs137853021

SIX3 ; SIX3-AS1

0.800

GeneticVariation

UNIPROT

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.

10369266

1999

dbSNP:

rs121917878

SIX3 ; SIX3-AS1

0.800

CausalMutation

CLINVAR