Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease. 30486714 2019
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration. 26173967 2016
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		0.700 CausalMutation disease CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		0.700 GermlineCausalMutation disease ORPHANET Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. 21092922 2010
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. 21092922 2010
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. 21092922 2010
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. 21092922 2010
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		0.700 Biomarker disease CTD_human
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.230 GeneticVariation group BEFREE To date, nonsense mutations in AIMP1 have been associated with a primary neurodegenerative disorder consisting of cerebral atrophy, hypomyelination, microcephaly and epilepsy, whereas missense mutations have recently been linked to intellectual disability without neurodegeneration. 30486714 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.230 GeneticVariation group BEFREE To date, two allelic variants in the AIMP1 gene have been reported as the underlying cause of autosomal recessive primary neurodegenerative disorder. 26173967 2016
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.230 Biomarker group BEFREE We propose that AIMP1 deficiency be added to the differential diagnosis of infantile onset, progressive neurodegenerative disease. 24958424 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.230 Biomarker group RGD Expression of EMAP-II by activated monocytes/microglial cells in different regions of the rat hippocampus after trimethyltin-induced brain damage. 12429238 2002
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.200 Biomarker disease RGD Six weeks following myocardial infarction, EMAP II protein is elevated above control, changes its location of transcription from the inflammatory cell population to that of the fibroblasts located in the relative avascular scar tissue, and has resumed its perivascular stromal distribution in the viable periinfarct tissue. 14732363 2004
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		0.200 Biomarker group RGD Expression of EMAP-II by activated monocytes/microglial cells in different regions of the rat hippocampus after trimethyltin-induced brain damage. 12429238 2002
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
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.100 Biomarker disease HPO
CUI: C0007795
Disease: Diffuse Cerebral Sclerosis of Schilder
Diffuse Cerebral Sclerosis of Schilder 		0.100 Biomarker disease HPO
CUI: C0008489
Disease: Chorea
Chorea 		0.100 Biomarker phenotype HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO