Source: CLINVAR

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 4 2012 2019
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1 		nectin cell adhesion molecule 1 0.523 0.808 6.1E-02
CUI: C2931488
Disease: Zlotogora-Ogur syndrome
Zlotogora-Ogur syndrome 		disease 0.730 None 1.000 0 3 2000 2015
Entrez Id: 7780
Gene Symbol: SLC30A2
SLC30A2 		solute carrier family 30 member 2 0.821 0.192 8.1E-02
CUI: C1842486
Disease: Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc
Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc 		disease 0.650 None 0.833 0 1 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 0 2 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 0 6 2015 2015
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2 		ATPase H+ transporting V1 subunit B2 0.606 0.577 0.99
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1 		disease 0.100 None 0 1
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 0 20 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 0 5 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 0 5 2007 2019
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		disease 0.790 strong 1.000 2 13 2011 2019
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		parkin RBR E3 ubiquitin protein ligase 0.431 0.846 6.9E-07
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		disease 0.200 None 1.000 18 1 1998 2020
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 0 6 2016 2017
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11 		thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C1863008
Disease: Yellow-brown discoloration of the teeth
Yellow-brown discoloration of the teeth 		phenotype 0.100 None 0 2
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 0 3 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 0 3 1988 2013
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		AFG3 like matrix AAA peptidase subunit 2 0.588 0.462 5.3E-09
CUI: C0043352
Disease: Xerostomia
Xerostomia 		disease 0.100 None 1.000 1 1 2010 2010
Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6 		tubulin beta 6 class V 0.686 0.462 1.7E-04
CUI: C0043352
Disease: Xerostomia
Xerostomia 		disease 0.100 None 1.000 1 1 2010 2010
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 7 13 1999 2018
Entrez Id: 54676
Gene Symbol: GTPBP2
GTPBP2 		GTP binding protein 2 0.736 0.423 0.32
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		disease 0.100 None 1.000 2 4 2000 2008
Entrez Id: 100533467
Gene Symbol: BIVM-ERCC5
BIVM-ERCC5 		BIVM-ERCC5 readthrough 0.736 0.308 1.3E-15
CUI: C1968561
Disease: Xeroderma Pigmentosum, Type G-Cockayne Syndrome
Xeroderma Pigmentosum, Type G-Cockayne Syndrome 		disease 0.100 None 0 3
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		ERCC excision repair 5, endonuclease 0.499 0.731 2.7E-13
CUI: C1968561
Disease: Xeroderma Pigmentosum, Type G-Cockayne Syndrome
Xeroderma Pigmentosum, Type G-Cockayne Syndrome 		disease 0.300 None 1.000 0 3 1999 2004
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C3806565
Disease: XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME 		disease 0.300 None 1.000 0 3 2004 2004
Entrez Id: 100533467
Gene Symbol: BIVM-ERCC5
BIVM-ERCC5 		BIVM-ERCC5 readthrough 0.736 0.308 1.3E-15
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		disease 0.100 None 1.000 1 10 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 1 10 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 8 4 1988 2019