Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 105804841
Gene Symbol: ZRS
ZRS
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		0.040 AlteredExpression BEFREE A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome. 29543231

2018
Entrez Id: 105804841
Gene Symbol: ZRS
ZRS
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		0.040 GeneticVariation BEFREE Microduplication of 7q36.3 encompassing the SHH long‑range regulator (ZRS) in a patient with triphalangeal thumb‑polysyndactyly syndrome and congenital heart disease. 28035386

2017
Entrez Id: 105804841
Gene Symbol: ZRS
ZRS
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		0.040 Biomarker BEFREE It had been identified that point mutation or genomic duplications of the long-range limb-specific cis-regulator - zone of polarizing activity regulatory sequence (ZRS) cause PPD or other limb deformities such as syndactyly type IV (SD4) and Triphalangeal thumb-polysyndactyly syndrome (TPTPS). 27922091

2016
Entrez Id: 105804841
Gene Symbol: ZRS
ZRS
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		0.040 GeneticVariation BEFREE Both TPTPS and SD4 are due to duplications involving ZRS, the limb specific SHH enhancer. 18417549

2008