Source: GENOMICS_ENGLAND

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: 2072
Gene Symbol: ERCC4
ERCC4 		ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		disease 1.000 definitive 1.000 3 0 1988 2019
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome 		disease 0.720 None 1.000 2 0 1988 2013
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		disease 0.700 None 1.000 4 0 1988 2016
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease 0.600 strong 0.917 1 0 2007 2018
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group 0.410 strong 0.500 1 0 2017 2017
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.400 strong 0 0
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 0.320 strong 0.667 1 0 2015 2017
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		disease 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		disease 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		phenotype 0.300 strong 1.000 1 0 2013 2013
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		disease 0.300 strong 0 0