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: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 GeneticVariation BEFREE Most of these malformations are due to the gain-of-function of the Zone of Polarizing Activity Regulatory Sequence, the only limb-specific enhancer of SHH known to date. 25782671

2016
Entrez Id: 105804841
Gene Symbol: ZRS
ZRS
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 Biomarker BEFREE Although most mutations cause preaxial polydactyly (PPD), triphalangeal thumb (TPT) or both, a mutation in position 404 of the ZRS causes more severe Werner mesomelic syndrome (WMS) for which malformations include the distal arm or leg bones in addition to the hands and/or feet. 24777739

2014