DisGeNET - a database of gene-disease associations

Source: ALL

Disease: MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE ×

Gene: TRNT ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	4576
Gene Symbol:	TRNT

TRNT

CUI:	C1838876
Disease:	MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE

MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE

0.600

GeneticVariation

ORPHANET

Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency.

1645537

1991

Entrez Id:	4576
Gene Symbol:	TRNT

TRNT

CUI:	C1838876
Disease:	MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE

MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE

0.600

Biomarker

HPO

Entrez Id:	4576
Gene Symbol:	TRNT

TRNT

CUI:	C1838876
Disease:	MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE

MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE

0.600

Biomarker

CTD_human