GLI1, GLI family zinc finger 1, 2735

N. diseases: 369; N. variants: 14
Disease: Polydactyly preaxial type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		0.700 GermlineCausalMutation disease ORPHANET A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly. 30620395 2019
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		0.700 GeneticVariation disease UNIPROT A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly. 30620395 2019
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		0.700 Biomarker disease GENOMICS_ENGLAND A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly. 30620395 2019
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		0.700 Biomarker disease HPO