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: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.010 GeneticVariation disease BEFREE These findings provide new insights into GnRH-1 and OECs development and demonstrate that human <i>GLI3</i> mutations contribute to KS etiology.<b>Significance statement.</b> The transcription factor Gli3 is necessary for correct development of the olfactory system. 31767679 2020
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 GeneticVariation disease BEFREE Mutations in GLI3 have been reported to cause syndromic and non-syndromic forms of preaxial and postaxial polydactylies. 31706290 2019
CUI: C2699746
Disease: Syndactyly, type 2
Syndactyly, type 2 		0.010 GeneticVariation disease BEFREE We identified a novel c. 1622C > T variant in GLI3 leading to an isolated postaxial synpolydactyly. 31706290 2019
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.020 Biomarker disease BEFREE During the study period, (a) the number of viremic donor kidneys increased 2 folds; (b) the multilevel mixed-effects logistic regression models showed that, overall, the PHS labeling (OR 1.20, CI 95% CI 1.15-1.29) and HCV designation (OR 2.29; 95% CI 2.15-2.43) were independently associated with increased risk of discard; (c) contrary to the general perception, PHS-IR kidneys across all HCV groups, compared to PHS-IR kidneys were more likely to be discarded; (d) we forecasted that the number of kidneys from HCV viremic donor kidneys might increase from 1376 in 2019 to 2092 in 2023. 31677214 2020
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.020 AlteredExpression disease BEFREE Furthermore, the existence of five hypermethylated candidate genes (esxC, fabG3, fbpB, papA1 and pks2) in PAS-resistant M. tuberculosis H37Rv was verified using protein-protein interaction analysis in the STRING database. 31562690 2020
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.030 Biomarker disease BEFREE These results suggested that miR-125b might be protective against liver fibrosis via regulating Gli3 and it might be a promising target in the development of novel therapies to treat pathological fibrotic disorders. 31548167 2020
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation disease BEFREE Therefore, functional cDNA analysis confirmed that the haploinsufficiency of the GLI3 is the cause of GCPS in the affected family members. 31325247 2019
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 GeneticVariation disease BEFREE Targeted exome sequencing reveals a novel GLI3 mutation in a Chinese family with nonsyndromic polydactyly. 31306531 2019
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.030 Biomarker disease BEFREE The aim of the present study was to identify the association between microRNA (miR)-152 and GLI family zinc finger 3 (Gli3) and their roles in liver fibrosis. 31258681 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.310 Biomarker group BEFREE We replicated the association of TCN2, BHMT and GLI3 with NTD risk in the 81 cases. 31139930 2019
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 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: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 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 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: C0152427
Disease: Polydactyly
Polydactyly 		0.700 GeneticVariation disease BEFREE Pathogenic mutations in the GLI3 gene (glioma-associated oncogene family zinc finger 3) have been associated with both nonsyndromic and syndromic polydactyly. 31115189 2019
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 Biomarker disease GENOMICS_ENGLAND Pathogenic mutations in the GLI3 gene (glioma-associated oncogene family zinc finger 3) have been associated with both nonsyndromic and syndromic polydactyly. 31115189 2019
CUI: C1868111
Disease: Polydactyly, preaxial 4
Polydactyly, preaxial 4 		0.700 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: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		0.630 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: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		0.490 GeneticVariation disease BEFREE To the best of our knowledge, the present study reports on the first familial case of nonsyndromic postaxial polydactyly due to the GLI3 variant in Pakistani population. 31115189 2019
CUI: C0024636
Disease: Malocclusion
Malocclusion 		0.010 GeneticVariation disease BEFREE The present study suggests that SNPs in TA-associated GLI2 and GLI3 genes may also play a role in the development of skeletal malocclusions. rs3738880 and rs2278741 in GLI2 seems to contribute to the genetic background for skeletal Class III and TA, respectively. 31112935 2019
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		0.010 GeneticVariation disease BEFREE The present cross-sectional, multi-centre, genetic study aimed to determine, whether single nucleotide polymorphisms (SNPs) in tooth agenesis (TA)-associated GLI2 and GLI3 genes contribute to the development of craniofacial skeletal morphology in humans. 31112935 2019
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 GeneticVariation disease BEFREE The findings of this study may expand the mutational spectrum of GLI3-PAPA and provide novel insights into the genetic basis of polydactyly. 30848202 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group BEFREE These results support a critical role of MED12 in regulating Gli3-dependent SHH signaling and in developing ID and related congenital malformations in XLID syndromes. 30729724 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.080 Biomarker group BEFREE These results support a critical role of MED12 in regulating Gli3-dependent SHH signaling and in developing ID and related congenital malformations in XLID syndromes. 30729724 2019
CUI: C0220769
Disease: FG syndrome
FG syndrome 		0.010 Biomarker disease BEFREE The Gli3-dependent Sonic Hedgehog (SHH) signaling pathway has been implicated in the original FG syndrome and Lujan syndrome. 30729724 2019
CUI: C0796022
Disease: Lujan Fryns syndrome
Lujan Fryns syndrome 		0.010 Biomarker disease BEFREE The Gli3-dependent Sonic Hedgehog (SHH) signaling pathway has been implicated in the original FG syndrome and Lujan syndrome. 30729724 2019