Source: CLINVAR

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 CausalMutation CLINVAR Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. 22444671

2012
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
CUI: C2931488
Disease: Zlotogora-Ogur syndrome
Zlotogora-Ogur syndrome 		0.730 CausalMutation CLINVAR

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 CausalMutation CLINVAR

Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2 		0.410 CausalMutation CLINVAR

Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2 		0.410 GeneticVariation CLINVAR

Entrez Id: 3756
Gene Symbol: KCNH1
KCNH1
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1 		0.400 CausalMutation CLINVAR

Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1 		0.100 CausalMutation CLINVAR

Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 GeneticVariation CLINVAR

Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 CausalMutation CLINVAR

Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
CUI: C2931299
Disease: ZAP70 deficiency
ZAP70 deficiency 		0.730 CausalMutation CLINVAR

Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 CausalMutation CLINVAR

Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 GeneticVariation CLINVAR

Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 CausalMutation CLINVAR Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. 22077973

2011
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.200 CausalMutation CLINVAR Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin. 25939424

2015
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.200 CausalMutation CLINVAR Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin. 16049031

2005
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.200 CausalMutation CLINVAR Exome sequencing in dementia with Lewy bodies. 26836416

2016
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.200 CausalMutation CLINVAR Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. 19801972

2009
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.200 CausalMutation CLINVAR Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD. 27182553

2016
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.200 CausalMutation CLINVAR Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2). 22555654

2012
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.200 CausalMutation CLINVAR Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts. 25815004

2015
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.200 CausalMutation CLINVAR Distribution, type, and origin of Parkin mutations: review and case studies. 15390068

2004
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.200 CausalMutation CLINVAR RING finger 1 mutations in Parkin produce altered localization of the protein. 14519684

2003
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.200 CausalMutation CLINVAR A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. 10072423

1999
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.200 CausalMutation CLINVAR How much phenotypic variation can be attributed to parkin genotype? 12891670

2003