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: C1861373
Disease: Y-shaped metacarpals
Y-shaped metacarpals 		0.100 Biomarker phenotype HPO
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		0.100 Biomarker phenotype HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		0.100 CausalMutation disease CLINVAR
CUI: C0268875
Disease: Urethrorectal fistula
Urethrorectal fistula 		0.010 AlteredExpression disease BEFREE Mutant mice lacking Gli2 or Gli3, two zinc finger transcription factors involved in Shh signaling, respectively, exhibit imperforate anus with recto-urethral fistula and anal stenosis. 11485934 2001
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.100 Biomarker disease HPO
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		0.100 SusceptibilityMutation phenotype CLINVAR
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		0.100 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: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		0.100 Biomarker disease HPO
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 AlteredExpression phenotype BEFREE There were 45 in 99 patients with pancreatic cancer expressed Gli3, and significant correlations were observed between the Gli3 level and vascular invasion (P = 0.04), distant metastasis (P = 0.001), and histologic grade (P = 0.03). 29315756 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 Biomarker phenotype BEFREE Following this, we examined the effects of GLI3 knockdown on CD44 and ESA expression, colony and sphere formation capability, stem-related gene expression, proliferation and invasion. 30272273 2018
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.020 GeneticVariation disease BEFREE A rough M. tuberculosis H37Rv ΔpapA1 sulfoglycolipid-deficient mutant had significantly diminished Congo Red uptake though hexadecane-aqueous buffer partitioning was similar to H37Rv. 28465507 2017
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: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.100 CausalMutation disease CLINVAR
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.100 Biomarker disease HPO
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.120 GeneticVariation disease BEFREE In all five children, the diagnosis of GCPS was confirmed by molecular analysis of GLI3 (two had intragenic mutations and three had complete gene deletions detected on array comparative genomic hybridisation), thus highlighting the importance of trigonocephaly or overt metopic or sagittal synostosis as a distinct presenting feature of GCPS. 21326280 2011
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.120 Biomarker disease BEFREE To date, trigonocephaly has not been associated with abnormalities of GLI3 and craniosynostosis is not a feature of GCPS. 20583172 2010
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.120 Biomarker disease HPO
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.020 GeneticVariation disease BEFREE This is due to the large number of different mutations in the glioma-associated oncogene 3 (GLI3) that can give rise to the syndrome. 25777356 2016
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.020 Biomarker disease BEFREE Human GLI3, located on chromosome 7p13, is a candidate gene for the syndrome because it is interrupted by translocation breakpoints associated with GCPS. 9302279 1997
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.100 Biomarker disease HPO
CUI: C1563716
Disease: Thyroid Dysgenesis
Thyroid Dysgenesis 		0.100 Biomarker disease HPO
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		0.300 Biomarker disease CTD_human Exencephaly induction by valproic acid in the genetic polydactyly/arhinencephaly mouse, Pdn/Pdn. 16359493 2005
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		0.040 Biomarker group BEFREE In the case of widespread pain, high GCPS scores (III-IV), and high PHQ-4 scores (6-12), the authors recommend referral to a multidisciplinary team, especially for patients with temporomandibular disorder (TMD) pain. 29653670 2018