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: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.130 None 1.000 0 0 2017 2019
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype 0.120 None 1.000 0 0 2013 2018
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1840069
Disease: Sandal gap
Sandal gap 		phenotype 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1844690
Disease: Limited knee extension
Limited knee extension 		phenotype 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1848514
Disease: Short fourth metatarsal
Short fourth metatarsal 		phenotype 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		phenotype 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		phenotype 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C0581342
Disease: Redundant skin
Redundant skin 		phenotype 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		phenotype 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1836189
Disease: Radial deviation of finger
Radial deviation of finger 		phenotype 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		phenotype 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1720771
Disease: Testicular Hydrocele
Testicular Hydrocele 		disease 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C0920299
Disease: Overriding toe
Overriding toe 		disease 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1867103
Disease: Limited elbow extension
Limited elbow extension 		phenotype 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease 0.100 None 0 0