SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 303; N. variants: 44
Disease: Abnormality of limb bone morphology ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4082761
Disease: Abnormality of limb bone morphology
Abnormality of limb bone morphology 		0.010 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