GLI1, GLI family zinc finger 1, 2735

N. diseases: 369; N. variants: 14
Disease: Polydactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.020 Biomarker disease BEFREE We used a mouse model with Tbx5 conditional knockdown in Hh-receiving cells (marked by Gli1+) during E8 to E10.5, a previously established model to study atrial septum defects, displayed polydactyly or hypodactyly. 31373354 2019
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.020 GeneticVariation disease BEFREE Heterozygous variants in the GLI3, ZRS/SHH, and PITX1 have been associated with autosomal dominant polydactyly, while homozygous variants in the ZNF141, IQCE, GLI1, and FAM92A have been associated with autosomal recessive polydactyly. 31115189 2019