SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 303; N. variants: 44
Disease: Triphalangeal thumb ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.120 AlteredExpression disease BEFREE Triphalangeal thumb‑polysyndactyly syndrome (TPT‑PS) is an autosomal dominant disorder with complete penetrance and a variable expression consisting of opposable triphalangeal thumbs, duplication of the distal thumb phalanx, pre‑axial polydactyly and duplication of the big toes (hallux). 28035386 2017
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.120 GeneticVariation disease BEFREE A locus for triphalangeal thumb, variably associated with pre-axial polydactyly, was previously identified in the zone of polarizing activity regulatory sequence (ZRS), a long range limb-specific enhancer of the Sonic Hedgehog (SHH) gene at human chromosome 7q36.3. 18463159 2008
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.120 Biomarker disease HPO