SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 303; N. variants: 44
Disease: HOLOPROSENCEPHALY 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		0.900 Biomarker disease GENOMICS_ENGLAND Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency. 22897141 2013
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		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
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		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
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		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
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		0.900 GeneticVariation disease UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669 2006
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		0.900 GeneticVariation disease UNIPROT Single median maxillary central incisor, hypophyseal tumor, and SHH mutation. 15942953 2005
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		0.900 GeneticVariation disease UNIPROT SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor. 15942952 2005
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		0.900 GeneticVariation disease UNIPROT Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly. 16282375 2005
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		0.900 Biomarker disease MGD FKBP8 is a negative regulator of mouse sonic hedgehog signaling in neural tissues. 15105374 2004
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		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
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		0.900 GeneticVariation disease UNIPROT Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation. 15107988 2004
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		0.900 Biomarker disease GENOMICS_ENGLAND Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. 12503095 2003
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		0.900 GeneticVariation disease UNIPROT Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly. 11479728 2001
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		0.900 Biomarker disease MGD Gli1 can rescue the in vivo function of Gli2. 11748151 2001
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		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
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		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
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		0.900 GeneticVariation disease UNIPROT Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. 9302262 1997
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		0.900 GeneticVariation disease UNIPROT Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. 8896572 1996
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		0.900 Biomarker disease MGD Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. 8837770 1996
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		0.900 Biomarker disease GENOMICS_ENGLAND A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. 7550324 1995
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		0.900 CausalMutation disease CLINVAR
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		0.900 Biomarker disease CTD_human
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		0.900 GeneticVariation disease CLINVAR