Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225186
Disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.700 Biomarker disease GENOMICS_ENGLAND Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease. 28862745 2018
CUI: C4225186
Disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.700 Biomarker disease GENOMICS_ENGLAND Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease. 28862745 2018
CUI: C4225186
Disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.700 GeneticVariation disease UNIPROT Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. 26942284 2016
CUI: C4225186
Disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.700 CausalMutation disease CLINVAR
CUI: C4225186
Disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.700 Biomarker disease CTD_human
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.160 GeneticVariation disease BEFREE In conclusion, our study together with meta-analyses demonstrates that the variants of SIPA1L2 and VPS13C, potentially GCH1, but not of MIR4697 and DDRGK1, are associated with PD susceptibility in East Asians. 29622492 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.160 GeneticVariation disease BEFREE One individual was compound heterozygous for variants affecting canonical splice sites in VPS13C, confirming the causal role of protein-truncating variants in this gene linked to autosomal-recessive early-onset PD. 28862745 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.160 GeneticVariation disease BEFREE Polymorphism in MIR4697 but not VPS13C, GCH1, or SIPA1L2 is associated with risk of Parkinson's disease in a Han Chinese population. 28380328 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.160 CausalMutation disease CLINVAR Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. 26942284 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.160 Biomarker disease BEFREE Large-scale meta-analysis of genome-wide association data has identified six new risk loci (SIPA1L2, INPP5F, MIR4697, GCH1, VPS13C, and DDRGK1) for Parkinson's disease (PD). 26678010 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.160 GeneticVariation disease BEFREE Because ethnic-specific effect is an important concern for GWAS analysis, we genotyped single-nucleotide polymorphisms in the new genetic loci, GCH1 (rs11158026), SIPA1L2 (rs10797576), VPS13C (rs2414739), and MIR4697 (rs329648), to investigate their associations with risk of PD in Taiwan. 26804608 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.160 Biomarker disease BEFREE Here we investigated the association of four of these new loci, SIPA1L2, MIR4697, GCH1 and VPS13C with PD in an Iranian population. 27653855 2016
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.110 GeneticVariation phenotype BEFREE VPS13C mutations are associated with a distinct form of early-onset parkinsonism characterized by rapid and severe disease progression and early cognitive decline; the pathological features were striking and reminiscent of diffuse Lewy body disease. 26942284 2016
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.110 GeneticVariation group BEFREE This work suggests that loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a distinctive phenotype of rapid and severe progression. 26942284 2016
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.110 Biomarker phenotype HPO
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.110 Biomarker group HPO
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.100 GeneticVariation phenotype GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698 2019
CUI: C0017741
Disease: Glucose tolerance test
Glucose tolerance test 		0.100 GeneticVariation phenotype GWASCAT Fast and Accurate Genome-Wide Association Test of Multiple Quantitative Traits. 29743933 2018
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.100 GeneticVariation phenotype GWASCAT Fast and Accurate Genome-Wide Association Test of Multiple Quantitative Traits. 29743933 2018
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
CUI: C0425782
Disease: Breast size
Breast size 		0.100 GeneticVariation phenotype GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
CUI: C0017741
Disease: Glucose tolerance test
Glucose tolerance test 		0.100 GeneticVariation phenotype GWASDB Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. 20081857 2010
CUI: C0017741
Disease: Glucose tolerance test
Glucose tolerance test 		0.100 GeneticVariation phenotype GWASCAT Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. 20081857 2010
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0009398
Disease: Color vision defect
Color vision defect 		0.100 Biomarker phenotype HPO