DisGeNET - a database of gene-disease associations

AIMP1, aminoacyl tRNA synthetase complex interacting multifunctional protein 1, 9255

N. diseases: 125; N. variants: 4

Disease: Leukodystrophy ×

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:	C0023520
Disease:	Leukodystrophy

Leukodystrophy

0.110

GeneticVariation

disease

BEFREE

To date, loss-of-function variants in AIMP1 have been associated with hypomyelinating leukodystrophy-3 (MIM 260600).

30924036

2019

CUI:	C0023520
Disease:	Leukodystrophy

Leukodystrophy

0.110

Biomarker

disease

HPO