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: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1 		0.710 CausalMutation disease CLINVAR Mutation in GLI3 in postaxial polydactyly type A. 9354785 1997
CUI: C1868111
Disease: Polydactyly, preaxial 4
Polydactyly, preaxial 4 		0.700 CausalMutation disease CLINVAR
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 CausalMutation phenotype CLINVAR
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation phenotype CLINVAR
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 CausalMutation phenotype CLINVAR
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation disease CLINVAR
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 CausalMutation phenotype CLINVAR
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.100 CausalMutation disease CLINVAR
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 CausalMutation disease CLINVAR
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.100 CausalMutation disease CLINVAR
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.100 CausalMutation disease CLINVAR
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.100 CausalMutation disease CLINVAR
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.100 CausalMutation 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: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		0.100 CausalMutation disease CLINVAR
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.100 CausalMutation phenotype CLINVAR
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		0.100 CausalMutation phenotype CLINVAR
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.100 CausalMutation phenotype CLINVAR
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly 		0.100 CausalMutation phenotype CLINVAR
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 CausalMutation phenotype CLINVAR
CUI: C4016298
Disease: POSTAXIAL POLYDACTYLY, TYPE A1/B
POSTAXIAL POLYDACTYLY, TYPE A1/B 		0.100 CausalMutation disease CLINVAR
CUI: C4016299
Disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE 		0.100 CausalMutation disease CLINVAR
CUI: C4025774
Disease: 1-3 toe syndactyly
1-3 toe syndactyly 		0.100 CausalMutation disease CLINVAR
CUI: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration 		0.100 SusceptibilityMutation disease CLINVAR
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		0.100 SusceptibilityMutation phenotype CLINVAR