Source: ANIMAL_MODELS

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: 3479
Gene Symbol: IGF1
IGF1
insulin like growth factor 1 0.318 0.885 0.27
CUI: C0235950
Disease: Zinc deficiency
Zinc deficiency
disease 0.200 None 1.000 1 0 2010 2010
Entrez Id: 91252
Gene Symbol: SLC39A13
SLC39A13
solute carrier family 39 member 13 0.666 0.538 2.5E-03
CUI: C0235950
Disease: Zinc deficiency
Zinc deficiency
disease 0.210 None 1.000 1 0 2011 2011
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome
disease 0.800 strong 1.000 0 0 1997 2020
Entrez Id: 8799
Gene Symbol: PEX11B
PEX11B
peroxisomal biogenesis factor 11 beta 0.612 0.654 1.3E-04
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome
disease 0.510 None 0.500 0 0 2002 2012
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome
disease 0.980 None 1.000 1 0 2007 2019
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit 0.445 0.846 1.6E-07
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome
disease 0.200 None 1.000 1 0 2006 2006
Entrez Id: 5429
Gene Symbol: POLH
POLH
DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type
disease 0.940 definitive 1.000 3 0 1999 2018
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
ERCC excision repair 5, endonuclease 0.499 0.731 2.7E-13
Xeroderma Pigmentosum, Type G-Cockayne Syndrome
disease 0.300 None 1.000 2 0 1999 2004
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
ERCC excision repair 5, endonuclease 0.499 0.731 2.7E-13
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G
disease 1.000 definitive 1.000 2 0 1975 2016
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 1 0 1988 2019
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit 0.504 0.846 3.4E-11
CUI: C0268136
Disease: Xeroderma pigmentosum, group B
Xeroderma pigmentosum, group B
disease 1.000 definitive 1.000 1 0 1990 2019
Entrez Id: 7507
Gene Symbol: XPA
XPA
XPA, DNA damage recognition and repair factor 0.520 0.846 7.9E-05
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A
disease 1.000 definitive 0.968 6 0 1978 2019
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
damage specific DNA binding protein 2 0.576 0.654 7.4E-06
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
disease 1.000 definitive 0.850 2 0 1996 2016
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
Xeroderma Pigmentosum, Complementation Group D
disease 1.000 definitive 0.935 1 0 1977 2017
Entrez Id: 7508
Gene Symbol: XPC
XPC
XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
disease 1.000 definitive 0.987 1 0 1989 2019
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit 0.504 0.846 3.4E-11
Xeroderma Pigmentosum B-Cockayne Syndrome
disease 0.200 None 1.000 1 0 2009 2009
Entrez Id: 7507
Gene Symbol: XPA
XPA
XPA, DNA damage recognition and repair factor 0.520 0.846 7.9E-05
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.700 None 1.000 6 0 1991 2020
Entrez Id: 5429
Gene Symbol: POLH
POLH
DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.600 None 1.000 3 0 1999 2019
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
damage specific DNA binding protein 2 0.576 0.654 7.4E-06
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.300 None 1.000 2 0 1999 2018
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
ERCC excision repair 5, endonuclease 0.499 0.731 2.7E-13
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.400 None 1.000 2 0 1994 2019
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.400 None 0.986 1 0 1992 2019
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit 0.504 0.846 3.4E-11
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.300 None 0.974 1 0 1990 2020
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.300 None 1.000 1 0 1998 2019
Entrez Id: 7508
Gene Symbol: XPC
XPC
XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.700 None 0.974 1 0 1994 2019