| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | Mutation in GLI3 in postaxial polydactyly type A. | 9354785 | 1997 | ||||
|
0.710 | Biomarker | disease | CTD_human | |||||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.300 | Biomarker | disease | CTD_human | FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. | 30395363 | 2019 | ||||
|
0.300 | Biomarker | disease | CTD_human | A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus. | 29642246 | 2018 |