DisGeNET - a database of gene-disease associations

TSEN54, tRNA splicing endonuclease subunit 54, 283989

N. diseases: 72; N. variants: 19

Disease: Microcephaly ×

Source: ALL

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.400

Biomarker

disease

CTD_human

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

2008

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.400

Biomarker

disease

HPO