Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.700 strong 1.000 0 0 1999 2019
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		disease 0.630 strong 1.000 0 0 2008 2019
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease 0.310 None 1.000 0 0 2006 2009
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease 0.300 None 1.000 0 0 2016 2016
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.160 None 0.833 0 0 2010 2018
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		disease 0.130 None 1.000 0 0 2013 2018
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		disease 0.120 None 0.500 0 0 2010 2011
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		disease 0.120 None 1.000 0 0 2012 2017
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly 		disease 0.110 None 1.000 0 0 1995 1995
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 0 0 2019 2019
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0017638
Disease: Glioma
Glioma 		disease 0.110 None < 0.001 0 0 2001 2001
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		disease 0.110 None 1.000 0 0 2005 2005
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		disease 0.110 None 1.000 0 0 2001 2001
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		phenotype 0.100 None 0 0
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C1855003
Disease: Bilateral postaxial polydactyly
Bilateral postaxial polydactyly 		disease 0.100 None 0 0
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C1854114
Disease: Short nose
Short nose 		phenotype 0.100 None 0 0
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C1853737
Disease: Prominent occiput
Prominent occiput 		phenotype 0.100 None 0 0
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C1850854
Disease: Increased laxity of ankles
Increased laxity of ankles 		phenotype 0.100 None 0 0
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		phenotype 0.100 None 0 0