DisGeNET - a database of gene-disease associations

LARS2, leucyl-tRNA synthetase 2, mitochondrial, 23395

N. diseases: 5; N. variants: 12

Disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA ×

Variant: rs199589947 ×

Source: CURATED ×

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:

rs199589947

Entrez Id:	23395;100885795
Gene Symbol:	LARS2;LARS2-AS1

LARS2;LARS2-AS1

CUI:	C4310761
Disease:

HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA

0.800

GeneticVariation

UNIPROT

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.

26537577

2016

dbSNP:

rs199589947

Entrez Id:	23395;100885795
Gene Symbol:	LARS2;LARS2-AS1

LARS2;LARS2-AS1

CUI:	C4310761
Disease:

HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA

0.800

CausalMutation

CLINVAR