SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 303; N. variants: 44
Disease: HOLOPROSENCEPHALY 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853341
rs137853341
Entrez Id: 6469
Gene Symbol: SHH
SHH
CUI: C1840529
Disease:
HOLOPROSENCEPHALY 3 		0.700 GeneticVariation 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
dbSNP: rs137853341
rs137853341
Entrez Id: 6469
Gene Symbol: SHH
SHH
CUI: C1840529
Disease:
HOLOPROSENCEPHALY 3 		0.700 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669 2006
dbSNP: rs137853341
rs137853341
Entrez Id: 6469
Gene Symbol: SHH
SHH
CUI: C1840529
Disease:
HOLOPROSENCEPHALY 3 		0.700 GeneticVariation UNIPROT Single median maxillary central incisor, hypophyseal tumor, and SHH mutation. 15942953 2005
dbSNP: rs137853341
rs137853341
Entrez Id: 6469
Gene Symbol: SHH
SHH
CUI: C1840529
Disease:
HOLOPROSENCEPHALY 3 		0.700 GeneticVariation UNIPROT Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly. 16282375 2005
dbSNP: rs137853341
rs137853341
Entrez Id: 6469
Gene Symbol: SHH
SHH
CUI: C1840529
Disease:
HOLOPROSENCEPHALY 3 		0.700 GeneticVariation UNIPROT SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor. 15942952 2005
dbSNP: rs137853341
rs137853341
Entrez Id: 6469
Gene Symbol: SHH
SHH
CUI: C1840529
Disease:
HOLOPROSENCEPHALY 3 		0.700 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: rs137853341
rs137853341
Entrez Id: 6469
Gene Symbol: SHH
SHH
CUI: C1840529
Disease:
HOLOPROSENCEPHALY 3 		0.700 GeneticVariation UNIPROT Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation. 15107988 2004
dbSNP: rs137853341
rs137853341
Entrez Id: 6469
Gene Symbol: SHH
SHH
CUI: C1840529
Disease:
HOLOPROSENCEPHALY 3 		0.700 GeneticVariation UNIPROT Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly. 11479728 2001
dbSNP: rs137853341
rs137853341
Entrez Id: 6469
Gene Symbol: SHH
SHH
CUI: C1840529
Disease:
HOLOPROSENCEPHALY 3 		0.700 GeneticVariation UNIPROT The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. 10556296 1999
dbSNP: rs137853341
rs137853341
Entrez Id: 6469
Gene Symbol: SHH
SHH
CUI: C1840529
Disease:
HOLOPROSENCEPHALY 3 		0.700 GeneticVariation UNIPROT Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. 10441331 1999
dbSNP: rs137853341
rs137853341
Entrez Id: 6469
Gene Symbol: SHH
SHH
CUI: C1840529
Disease:
HOLOPROSENCEPHALY 3 		0.700 GeneticVariation UNIPROT Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. 9302262 1997
dbSNP: rs137853341
rs137853341
Entrez Id: 6469
Gene Symbol: SHH
SHH
CUI: C1840529
Disease:
HOLOPROSENCEPHALY 3 		0.700 GeneticVariation UNIPROT Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. 8896572 1996