Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.730 GeneticVariation UNIPROT Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. 22444671

2012
Entrez Id: 7780
Gene Symbol: SLC30A2
SLC30A2
CUI: C1842486
Disease: Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc
Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc 		0.650 GeneticVariation UNIPROT Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency. 17065149

2006
Entrez Id: 7780
Gene Symbol: SLC30A2
SLC30A2
CUI: C1842486
Disease: Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc
Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc 		0.650 GeneticVariation UNIPROT A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency. 22733820

2012
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2 		0.410 GeneticVariation UNIPROT Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. 25915598

2015
Entrez Id: 3756
Gene Symbol: KCNH1
KCNH1
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1 		0.400 GeneticVariation UNIPROT Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. 25915598

2015
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 GeneticVariation UNIPROT De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. 27545680

2016
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 GeneticVariation UNIPROT Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype. 27256762

2016
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 GeneticVariation UNIPROT De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676

2016
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 GeneticVariation UNIPROT Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

2015
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
CUI: C2931299
Disease: ZAP70 deficiency
ZAP70 deficiency 		0.730 GeneticVariation UNIPROT Specific immunoglobulin E responses in ZAP-70-deficient patients are mediated by Syk-dependent T-cell receptor signalling. 11412303

2001
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
CUI: C2931299
Disease: ZAP70 deficiency
ZAP70 deficiency 		0.730 GeneticVariation UNIPROT Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase. 8124727

1994
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
CUI: C2931299
Disease: ZAP70 deficiency
ZAP70 deficiency 		0.730 GeneticVariation UNIPROT Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency. 18509675

2009
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
CUI: C2931299
Disease: ZAP70 deficiency
ZAP70 deficiency 		0.730 GeneticVariation UNIPROT ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency. 8202713

1994
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
CUI: C2931299
Disease: ZAP70 deficiency
ZAP70 deficiency 		0.730 GeneticVariation UNIPROT Distinct T cell developmental consequences in humans and mice expressing identical mutations in the DLAARN motif of ZAP-70. 11123350

2001
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 GeneticVariation UNIPROT Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387

2013
Entrez Id: 9894
Gene Symbol: TELO2
TELO2
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 GeneticVariation UNIPROT A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. 27132593

2016
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.670 GeneticVariation UNIPROT Fifty-four of the 67 carriers of NOD2 variants had NAID, which has a genotype profile that is somewhat different from Crohn's disease. 26070941

2015
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.670 GeneticVariation UNIPROT A new category of autoinflammatory disease associated with NOD2 gene mutations. 21914217

2011
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome 		0.720 GeneticVariation UNIPROT A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis. 17183314

2006
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation UNIPROT Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene. 11032022

2000
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation UNIPROT Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. 11773631

2002
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation UNIPROT hRAD30 mutations in the variant form of xeroderma pigmentosum. 10398605

1999
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation UNIPROT Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations. 24130121

2014
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation UNIPROT The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. 10385124

1999
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation UNIPROT Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation. 11121129

2000