GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Postaxial polydactyly type A ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887487
Disease: Postaxial polydactyly type A
Postaxial polydactyly type A 		0.620 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2015 revision. 26394607 2015
CUI: C3887487
Disease: Postaxial polydactyly type A
Postaxial polydactyly type A 		0.620 GermlineCausalMutation disease ORPHANET A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet. 22428873 2012
CUI: C3887487
Disease: Postaxial polydactyly type A
Postaxial polydactyly type A 		0.620 AlteredExpression disease BEFREE GLI3 is a transcription factor from the GLI-Kruppel gene family that has been implicated in three distinct entities: GCPS, Pallister-Hall syndrome, and postaxial polydactyly type A. 15390181 2005
CUI: C3887487
Disease: Postaxial polydactyly type A
Postaxial polydactyly type A 		0.620 GeneticVariation disease BEFREE The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. 10441570 1999
CUI: C3887487
Disease: Postaxial polydactyly type A
Postaxial polydactyly type A 		0.620 Biomarker disease CTD_human
CUI: C3887487
Disease: Postaxial polydactyly type A
Postaxial polydactyly type A 		0.620 Biomarker disease GENOMICS_ENGLAND