DisGeNET - a database of gene-disease associations

TECPR2, tectonin beta-propeller repeat containing 2, 9895

N. diseases: 51; N. variants: 6

Disease: Neuroaxonal Dystrophies ×

Source: ALL

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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:	C0338473
Disease:	Neuroaxonal Dystrophies

Neuroaxonal Dystrophies

0.310

Biomarker

group

CTD_human

TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs.

26555167

2015

CUI:	C0338473
Disease:	Neuroaxonal Dystrophies