rs104894048, SHH

N. diseases: 2
Disease: HOLOPROSENCEPHALY 3 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HOLOPROSENCEPHALY 3
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
0.800 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
HOLOPROSENCEPHALY 3
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
0.800 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669 2006
HOLOPROSENCEPHALY 3
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
0.800 GeneticVariation UNIPROT Single median maxillary central incisor, hypophyseal tumor, and SHH mutation. 15942953 2005
HOLOPROSENCEPHALY 3
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
0.800 GeneticVariation UNIPROT Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly. 16282375 2005
HOLOPROSENCEPHALY 3
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
0.800 GeneticVariation UNIPROT SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor. 15942952 2005
HOLOPROSENCEPHALY 3
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
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
HOLOPROSENCEPHALY 3
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
0.800 GeneticVariation UNIPROT Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation. 15107988 2004
HOLOPROSENCEPHALY 3
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
0.800 GeneticVariation UNIPROT Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly. 11479728 2001
HOLOPROSENCEPHALY 3
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
0.800 GeneticVariation UNIPROT The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. 10556296 1999
HOLOPROSENCEPHALY 3
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
0.800 GeneticVariation UNIPROT Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. 10441331 1999
HOLOPROSENCEPHALY 3
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
0.800 GeneticVariation UNIPROT Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. 9302262 1997
HOLOPROSENCEPHALY 3
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
0.800 GeneticVariation UNIPROT Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. 8896572 1996
HOLOPROSENCEPHALY 3
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
0.800 CausalMutation CLINVAR