DisGeNET - a database of gene-disease associations

VPS13C, vacuolar protein sorting 13 homolog C, 54832

N. diseases: 71; N. variants: 12

Disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

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