DisGeNET - a database of gene-disease associations

OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES, C4225227

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

Gene

UniProt

Gene Full Name

Protein Class

N. diseases_g

DSI _g

DPI _g

pLI

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

Entrez Id:	84816
Gene Symbol:	RTN4IP1

RTN4IP1

Q8WWV3

reticulon 4 interacting protein 1

19

0.792

0.154

3.1E-06

0.700

strong

1.000

3

2

2015

2018