DisGeNET - a database of gene-disease associations

rs757199733, TTN

N. diseases: 2

Disease: Parkinsonian Disorders ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Parkinsonian Disorders

CUI:	C0242422
Disease:	Parkinsonian Disorders

0.010

GeneticVariation

BEFREE

The P88L mutation additionally featured early myoclonus followed by Parkinsonism.

2017