DisGeNET - a database of gene-disease associations

INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68, C4749033

Gene: TRMT1 ×

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	55621
Gene Symbol:	TRMT1

TRMT1

0.400

Biomarker

disease

GENOMICS_ENGLAND

TRMT1-Catalyzed tRNA Modifications Are Required for Redox Homeostasis To Ensure Proper Cellular Proliferation and Oxidative Stress Survival.

2017

Entrez Id:	55621
Gene Symbol:	TRMT1

TRMT1

0.400

CausalMutation

disease

CLINVAR