×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
CausalMutation
disease
CLINVAR
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
Biomarker
disease
CTD_human
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
GeneticVariation
disease
CLINVAR
×
Entrez Id:
6496
Gene Symbol:
SIX3
SIX3
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
Biomarker
disease
GENOMICS_ENGLAND
A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.
7550324
1995
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
Biomarker
disease
MGD
Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function.
8837770
1996
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
GeneticVariation
disease
UNIPROT
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
8896572
1996
×
Entrez Id:
7434
Gene Symbol:
VIPR2
VIPR2
0.010
GeneticVariation
disease
BEFREE
Our results suggest that deletion of the VIPR2 gene is not the sole factor responsible for the HPE3 phenotype.
8938447
1996
×
Entrez Id:
7432
Gene Symbol:
VIP
VIP
0.010
GeneticVariation
disease
BEFREE
Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype.
8938447
1996
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
GeneticVariation
disease
UNIPROT
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.
9302262
1997
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
GeneticVariation
disease
UNIPROT
Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.
10441331
1999
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
GeneticVariation
disease
UNIPROT
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
10556296
1999
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
GeneticVariation
disease
UNIPROT
Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.
11479728
2001
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
Biomarker
disease
MGD
Gli1 can rescue the in vivo function of Gli2.
11748151
2001
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
Biomarker
disease
GENOMICS_ENGLAND
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.
12503095
2003
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
Biomarker
disease
MGD
FKBP8 is a negative regulator of mouse sonic hedgehog signaling in neural tissues.
15105374
2004
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
GeneticVariation
disease
UNIPROT
Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.
15107988
2004
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
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:
6469
Gene Symbol:
SHH
SHH
0.900
GeneticVariation
disease
UNIPROT
SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor.
15942952
2005
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
GeneticVariation
disease
UNIPROT
Single median maxillary central incisor, hypophyseal tumor, and SHH mutation.
15942953
2005
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
GeneticVariation
disease
UNIPROT
Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly.
16282375
2005
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
GeneticVariation
disease
UNIPROT
Holoprosencephaly-like phenotype: clinical and genetic perspectives.
17001669
2006
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
Biomarker
disease
MGD
Phosphorylation of Gli2 by protein kinase A is required for Gli2 processing and degradation and the Sonic Hedgehog-regulated mouse development.
19056373
2009
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
GeneticVariation
disease
UNIPROT
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
19603532
2009
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.900
Biomarker
disease
MGD
Distinct roles of Hand2 in initiating polarity and posterior Shh expression during the onset of mouse limb bud development.
20386744
2010