DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F ×

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

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	116461
Gene Symbol:	TSEN15

TSEN15

tRNA splicing endonuclease subunit 15

0.769

0.115

0.28

CUI:	C4310757
Disease:	PONTOCEREBELLAR HYPOPLASIA, TYPE 2F

PONTOCEREBELLAR HYPOPLASIA, TYPE 2F

disease

0.700

None

1.000

0

2015

2016