Source: UNIPROT

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: 9487
Gene Symbol: PIGL
PIGL
phosphatidylinositol glycan anchor biosynthesis class L 0.581 0.731 6.2E-09
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome
disease 0.730 None 1.000 1 1 2012 2019
Entrez Id: 7780
Gene Symbol: SLC30A2
SLC30A2
solute carrier family 30 member 2 0.821 0.192 8.1E-02
Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc
disease 0.650 None 0.833 2 2 2006 2019
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
ATPase H+ transporting V1 subunit B2 0.606 0.577 0.99
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2
disease 0.410 None 1.000 1 1 2015 2019
Entrez Id: 3756
Gene Symbol: KCNH1
KCNH1
potassium voltage-gated channel subfamily H member 1 0.542 0.731 0.55
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1
disease 0.400 None 1.000 1 6 2015 2015
Entrez Id: 6651
Gene Symbol: SON
SON
SON DNA binding protein 0.565 0.769 1.00
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome
phenotype 0.710 None 1.000 4 0 2015 2019
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
zeta chain of T cell receptor associated protein kinase 70 0.497 0.769 0.88
CUI: C2931299
Disease: ZAP70 deficiency
ZAP70 deficiency
disease 0.730 strong 1.000 5 3 1994 2019
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 2 2007 2019
Entrez Id: 9894
Gene Symbol: TELO2
TELO2
telomere maintenance 2 0.695 0.500 7.2E-14
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME
disease 0.700 None 1.000 1 5 2016 2017
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
nucleotide binding oligomerization domain containing 2 0.423 0.923 2.0E-30
CUI: C4310620
Disease: Yao syndrome
Yao syndrome
disease 0.670 None 1.000 2 2 2011 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 1 1 1988 2013
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 6 6 1999 2018
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 7 6 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 5 4 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 3 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 5 3 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 1 1 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 7 15 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 7 1 1989 2019
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous
disease 0.800 None 0.985 5 6 1975 2019
Entrez Id: 55034
Gene Symbol: MOCOS
MOCOS
molybdenum cofactor sulfurase 0.617 0.654 1.6E-19
CUI: C1863688
Disease: Xanthinuria, Type II
Xanthinuria, Type II
disease 0.720 None 1.000 3 3 2001 2018
Entrez Id: 7498
Gene Symbol: XDH
XDH
xanthine dehydrogenase 0.529 0.846 2.6E-22
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I
disease 0.760 strong 1.000 4 1 1997 2013
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2
5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C4551511
Disease: X-linked sideroblastic anemia
X-linked sideroblastic anemia
disease 0.800 strong 1.000 10 12 1992 2019
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
chloride voltage-gated channel 5 0.593 0.577 0.99
X-linked recessive nephrolithiasis with renal failure
disease 0.620 strong 1.000 1 1 1996 2013
Entrez Id: 4068
Gene Symbol: SH2D1A
SH2D1A
SH2 domain containing 1A 0.525 0.731 0.39
X-Linked Lymphoproliferative Disorder
disease 1.000 strong 0.972 11 4 1998 2020
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome
disease 1.000 None 0.984 22 12 1986 2020