GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Polydactyly, preaxial 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868111
Disease: Polydactyly, preaxial 4
Polydactyly, preaxial 4 		0.700 Biomarker disease GENOMICS_ENGLAND Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly. 31115189 2019
CUI: C1868111
Disease: Polydactyly, preaxial 4
Polydactyly, preaxial 4 		0.700 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2015 revision. 26394607 2015
CUI: C1868111
Disease: Polydactyly, preaxial 4
Polydactyly, preaxial 4 		0.700 Biomarker disease CTD_human
CUI: C1868111
Disease: Polydactyly, preaxial 4
Polydactyly, preaxial 4 		0.700 CausalMutation disease CLINVAR
CUI: C1868111
Disease: Polydactyly, preaxial 4
Polydactyly, preaxial 4 		0.700 Biomarker disease GENOMICS_ENGLAND