SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 303; N. variants: 44
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
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 		0.720 GeneticVariation disease BEFREE Our results and an extensive literature review of gene mutations in patients with SMMCI showed that 27/28 of them were in HPE genes: SHH (n = 21), SIX3 (n = 3), TGIF (n = 1), GLI2 (n = 1), and PTCH (n = 1), and only one in the SALL4 gene. 17584896 2007
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 		0.720 GeneticVariation disease BEFREE Missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI. 16722608 2006