SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 303; N. variants: 44
Disease: Radial polydactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		0.330 Biomarker disease BEFREE HNRNPU gene mediate long range control of SHH gene which is likely explanation of preaxial polydactyly in the present patient.HHE may be a chance co-occurrence. 24214579 2014
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		0.330 AlteredExpression disease BEFREE Mutations in the long-range limb-specific cis-regulator (ZRS) could cause ectopic shh gene expression and are responsible for preaxial polydactyly (PPD). 19066618 2009
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		0.330 GeneticVariation disease BEFREE Point mutations in the long-range, limb-specific regulatory element of the SHH gene are responsible for the human limb abnormality called preaxial polydactyly (PPD). 15917205 2005
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		0.330 Biomarker disease GENOMICS_ENGLAND Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. 12032320 2002