Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.200 CausalMutation CLINVAR Parkin maintains mitochondrial levels of the protective Parkinson's disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10. 25591737

2015
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.200 CausalMutation CLINVAR The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants. 25907632

2015
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.200 CausalMutation CLINVAR Analysis of Leucine-rich repeat kinase 2 (LRRK2) and Parkinson protein 2 (parkin, PARK2) genes mutations in Slovak Parkinson disease patients. 23531835

2013
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.200 CausalMutation CLINVAR Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations. 19636047

2009
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.200 CausalMutation CLINVAR Neurocognitive & neuropsychiatric phenotypes of PARK2-associated early-onset Parkinson's disease in two siblings. 26855076

2016
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.200 CausalMutation CLINVAR Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers. 19162522

2009
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.200 CausalMutation CLINVAR Genetic Mutation Analysis of Parkinson's Disease Patients Using Multigene Next-Generation Sequencing Panels. 27294386

2016
Entrez Id: 9894
Gene Symbol: TELO2
TELO2
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 CausalMutation CLINVAR

Entrez Id: 9894
Gene Symbol: TELO2
TELO2
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 GeneticVariation CLINVAR

Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1863008
Disease: Yellow-brown discoloration of the teeth
Yellow-brown discoloration of the teeth 		0.100 CausalMutation CLINVAR

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.670 SusceptibilityMutation CLINVAR

Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome 		0.720 CausalMutation CLINVAR

Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6
CUI: C0043352
Disease: Xerostomia
Xerostomia 		0.100 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928

2010
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
CUI: C0043352
Disease: Xerostomia
Xerostomia 		0.100 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928

2010
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation CLINVAR Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178

2016
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation CLINVAR Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type. 17344931

2007
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399

2016
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation CLINVAR Xeroderma pigmentosum-variant patients from America, Europe, and Asia. 18368133

2008
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 CausalMutation CLINVAR 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 CausalMutation CLINVAR Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type. 18703314

2008
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation CLINVAR Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation. 11121129

2000
Entrez Id: 54676
Gene Symbol: GTPBP2
GTPBP2
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.100 GeneticVariation CLINVAR Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation. 11121129

2000
Entrez Id: 54676
Gene Symbol: GTPBP2
GTPBP2
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.100 CausalMutation CLINVAR Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type. 18703314

2008
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
CUI: C1968561
Disease: Xeroderma Pigmentosum, Type G-Cockayne Syndrome
Xeroderma Pigmentosum, Type G-Cockayne Syndrome 		0.300 CausalMutation CLINVAR

Entrez Id: 100533467
Gene Symbol: BIVM-ERCC5
BIVM-ERCC5
CUI: C1968561
Disease: Xeroderma Pigmentosum, Type G-Cockayne Syndrome
Xeroderma Pigmentosum, Type G-Cockayne Syndrome 		0.100 CausalMutation CLINVAR