GLI2, GLI family zinc finger 2, 2736

N. diseases: 351; N. variants: 37
Disease: Polydactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.430 GeneticVariation disease BEFREE GLI2 mutations should be suspected in the presence of congenital hypopitutarism, characteristic facial abnormalities and polydactyly. 30583238 2019
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.430 Biomarker disease BEFREE We summarize the phenotypic extent of GLI2/3 syndromes in the literature and determine that these 2 syndromes manifest opposite features to a certain extent, such as midface hypoplasia or macrocephaly, and anterior or posterior side of polydactyly. 29298444 2017
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.430 GeneticVariation disease BEFREE Mutations in GLI2 have been associated with holoprosencephaly (HPE), a neuroanatomic anomaly resulting from incomplete cleavage of the developing forebrain, and an HPE-like phenotype involving pituitary anomalies and polydactyly. 24744436 2014
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.430 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. 14581620 2003
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.430 Biomarker disease HPO