Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1
0.710 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: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1
0.710 CausalMutation disease CLINVAR Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation. 28315472 2017
CUI: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1
0.710 GeneticVariation disease BEFREE GLI3 mutations have been identified in patients with Pallister-Hall, Grieg cephalopolysyndactyly syndrome (GCPS), postaxial polydactyly type A1, preaxial polydactyly type IV, and in one patient with acrocallosal syndrome (ACLS). 20583172 2010
CUI: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1
0.710 GeneticVariation disease UNIPROT 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: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1
0.710 Biomarker disease GENOMICS_ENGLAND 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: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1
0.710 CausalMutation disease CLINVAR Mutation in GLI3 in postaxial polydactyly type A. 9354785 1997
CUI: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1
0.710 Biomarker disease CTD_human
CUI: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1
0.710 Biomarker disease GENOMICS_ENGLAND