GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4025774
Disease: 1-3 toe syndactyly
1-3 toe syndactyly 		0.100 CausalMutation disease CLINVAR
CUI: C4025774
Disease: 1-3 toe syndactyly
1-3 toe syndactyly 		0.100 Biomarker disease HPO
CUI: C4021235
Disease: 1-5 toe syndactyly
1-5 toe syndactyly 		0.100 Biomarker disease HPO
CUI: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly 		0.100 Biomarker disease HPO
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		0.100 CausalMutation phenotype CLINVAR
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		0.100 Biomarker phenotype HPO
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.020 GeneticVariation disease BEFREE In two GCPS cases, both of which did not exhibit obvious cytogenetic rearrangements, point mutations were identified in different domains of the protein, showing for the first time that Greig syndrome can be caused by GLI3 point mutations. 9302279 1997
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.020 GeneticVariation disease BEFREE GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. 1650914 1991
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		0.100 Biomarker phenotype HPO
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		0.100 Biomarker phenotype HPO
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		0.100 Biomarker disease HPO
CUI: C4022448
Disease: Abnormal prolactin level
Abnormal prolactin level 		0.100 Biomarker phenotype HPO
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 Biomarker disease HPO
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		0.010 GeneticVariation phenotype BEFREE A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies. 28884880 2017
CUI: C4021808
Disease: Abnormality of earlobe
Abnormality of earlobe 		0.100 Biomarker disease HPO
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		0.100 Biomarker disease HPO
CUI: C0728895
Disease: Absent finger
Absent finger 		0.100 Biomarker disease HPO
CUI: C1841686
Disease: Absent hallux
Absent hallux 		0.100 Biomarker phenotype HPO
CUI: C1405984
Disease: Absent radius
Absent radius 		0.100 Biomarker disease HPO
CUI: C3276744
Disease: Absent tibia
Absent tibia 		0.100 Biomarker phenotype HPO
CUI: C4021814
Disease: Accessory oral frenulum
Accessory oral frenulum 		0.100 Biomarker disease HPO
CUI: C0263445
Disease: Acne fulminans
Acne fulminans 		0.010 Biomarker disease BEFREE The patient was diagnosed as having features of a PAPA-like syndrome in which cutaneous manifestations, such as pyoderma gangrenosum and acne fulminans, predominated. 23426477 2013
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		0.010 GeneticVariation disease BEFREE By linkage mapping and exome sequencing in the most severe case, we identified novel heterozygous frameshift mutation NM_000168.5 (GLI3): c.3635delG (p.(Gly1212Alafs*18)) but did not detect any other possibly deleterious mutation that could explain the unusual features of camptodactyly, hypoplasia of third toe and wide space between first and second toes. 28315472 2017
CUI: C0702169
Disease: Acrania
Acrania 		0.300 Biomarker disease CTD_human Exencephaly induction by valproic acid in the genetic polydactyly/arhinencephaly mouse, Pdn/Pdn. 16359493 2005
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.350 GermlineCausalMutation disease ORPHANET Here, we describe a second patient with acrocallosal syndrome, who has a de novo, novel c.2786T>C mutation in GLI3, which predicts p.Leu929Pro. 23633388 2013