DisGeNET - a database of gene-disease associations

TSEN54, tRNA splicing endonuclease subunit 54, 283989

N. diseases: 72; N. variants: 19

Disease: Pontocerebellar Hypoplasia Type 2A ×

Variant: rs1012275384 ×

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

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1012275384

rs1012275384

Entrez Id:	283989
Gene Symbol:	TSEN54

TSEN54

CUI:	C1848526
Disease:

Pontocerebellar Hypoplasia Type 2A

A

0.700

CausalMutation

CLINVAR