Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9255
Gene name	Aminoacyl tRNA synthetase complex interacting multifunctional protein 1
Gene symbol	AIMP1
Synonyms (NCBI Gene)	EMAP2EMAPIIHLD3SCYE1p43
Chromosome	4
Chromosome location	4q24
Summary	The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive t

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906865	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs724159969	C>T	Pathogenic	Stop gained, coding sequence variant
rs750731609	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs879253867	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057520101	AGAAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant

139

Show/Hide all (139)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020704	hsa-miR-155-5p	Proteomics	18668040
MIRT031610	hsa-miR-16-5p	Proteomics	18668040
MIRT543891	hsa-miR-3133	PAR-CLIP	21572407
MIRT543890	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT543889	hsa-miR-320a	PAR-CLIP	21572407
MIRT543888	hsa-miR-320b	PAR-CLIP	21572407
MIRT543887	hsa-miR-320c	PAR-CLIP	21572407
MIRT543886	hsa-miR-320d	PAR-CLIP	21572407
MIRT543885	hsa-miR-4429	PAR-CLIP	21572407
MIRT355843	hsa-miR-101-5p	PAR-CLIP	21572407
MIRT543884	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT543883	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT329263	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT543882	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT329262	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT329264	hsa-miR-568	PAR-CLIP	21572407
MIRT543891	hsa-miR-3133	PAR-CLIP	21572407
MIRT543890	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT543889	hsa-miR-320a	PAR-CLIP	21572407
MIRT543888	hsa-miR-320b	PAR-CLIP	21572407
MIRT543887	hsa-miR-320c	PAR-CLIP	21572407
MIRT543886	hsa-miR-320d	PAR-CLIP	21572407
MIRT543885	hsa-miR-4429	PAR-CLIP	21572407
MIRT355843	hsa-miR-101-5p	PAR-CLIP	21572407
MIRT543884	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT543883	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT329263	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT543882	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT329262	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT329264	hsa-miR-568	PAR-CLIP	21572407
MIRT774512	hsa-miR-331-5p	CLIP-seq
MIRT774513	hsa-miR-4504	CLIP-seq
MIRT774514	hsa-miR-4678	CLIP-seq
MIRT774515	hsa-miR-136	CLIP-seq
MIRT774516	hsa-miR-3183	CLIP-seq
MIRT774517	hsa-miR-4723-3p	CLIP-seq
MIRT774518	hsa-miR-885-5p	CLIP-seq
MIRT774519	hsa-miR-891b	CLIP-seq
MIRT774520	hsa-miR-146a	CLIP-seq
MIRT774521	hsa-miR-146b-5p	CLIP-seq
MIRT774522	hsa-miR-526b	CLIP-seq
MIRT774523	hsa-miR-580	CLIP-seq
MIRT774524	hsa-miR-589	CLIP-seq
MIRT1928584	hsa-miR-3145-3p	CLIP-seq
MIRT2169349	hsa-miR-3662	CLIP-seq
MIRT2169350	hsa-miR-4307	CLIP-seq
MIRT2169351	hsa-miR-548ae	CLIP-seq
MIRT2169352	hsa-miR-548aj	CLIP-seq
MIRT2169353	hsa-miR-548am	CLIP-seq
MIRT2169354	hsa-miR-548x	CLIP-seq
MIRT2471901	hsa-miR-1185	CLIP-seq
MIRT2471902	hsa-miR-1283	CLIP-seq
MIRT2471903	hsa-miR-137	CLIP-seq
MIRT2471904	hsa-miR-1914	CLIP-seq
MIRT2471905	hsa-miR-203	CLIP-seq
MIRT2471906	hsa-miR-300	CLIP-seq
MIRT2471907	hsa-miR-3119	CLIP-seq
MIRT1928584	hsa-miR-3145-3p	CLIP-seq
MIRT2471908	hsa-miR-324-5p	CLIP-seq
MIRT2471909	hsa-miR-338-5p	CLIP-seq
MIRT2471910	hsa-miR-34b	CLIP-seq
MIRT2471911	hsa-miR-3613-3p	CLIP-seq
MIRT2471912	hsa-miR-361-5p	CLIP-seq
MIRT2471913	hsa-miR-3661	CLIP-seq
MIRT2471914	hsa-miR-3679-5p	CLIP-seq
MIRT2471915	hsa-miR-374a	CLIP-seq
MIRT2471916	hsa-miR-374b	CLIP-seq
MIRT2471917	hsa-miR-381	CLIP-seq
MIRT2471918	hsa-miR-3922-5p	CLIP-seq
MIRT2471919	hsa-miR-3924	CLIP-seq
MIRT2471920	hsa-miR-3929	CLIP-seq
MIRT2471921	hsa-miR-3942-3p	CLIP-seq
MIRT2471922	hsa-miR-4252	CLIP-seq
MIRT2471923	hsa-miR-4275	CLIP-seq
MIRT2471924	hsa-miR-4279	CLIP-seq
MIRT2169350	hsa-miR-4307	CLIP-seq
MIRT2471925	hsa-miR-4419b	CLIP-seq
MIRT2471926	hsa-miR-4426	CLIP-seq
MIRT2471927	hsa-miR-4428	CLIP-seq
MIRT2471928	hsa-miR-4468	CLIP-seq
MIRT2471929	hsa-miR-4478	CLIP-seq
MIRT2471930	hsa-miR-4502	CLIP-seq
MIRT2471931	hsa-miR-4528	CLIP-seq
MIRT2471932	hsa-miR-4647	CLIP-seq
MIRT2471933	hsa-miR-4662b	CLIP-seq
MIRT2471934	hsa-miR-4666-3p	CLIP-seq
MIRT2471935	hsa-miR-4668-3p	CLIP-seq
MIRT2471936	hsa-miR-4731-3p	CLIP-seq
MIRT2471937	hsa-miR-4775	CLIP-seq
MIRT2471938	hsa-miR-4793-5p	CLIP-seq
MIRT2471939	hsa-miR-4795-3p	CLIP-seq
MIRT2471940	hsa-miR-4801	CLIP-seq
MIRT2471941	hsa-miR-513a-3p	CLIP-seq
MIRT2471942	hsa-miR-548c-3p	CLIP-seq
MIRT2471943	hsa-miR-550a	CLIP-seq
MIRT2471944	hsa-miR-590-3p	CLIP-seq
MIRT2471945	hsa-miR-600	CLIP-seq
MIRT2471946	hsa-miR-605	CLIP-seq
MIRT2471947	hsa-miR-616	CLIP-seq
MIRT2471948	hsa-miR-631	CLIP-seq
MIRT2471949	hsa-miR-649	CLIP-seq
MIRT2471950	hsa-miR-889	CLIP-seq
MIRT2471901	hsa-miR-1185	CLIP-seq
MIRT2471902	hsa-miR-1283	CLIP-seq
MIRT2471904	hsa-miR-1914	CLIP-seq
MIRT2471905	hsa-miR-203	CLIP-seq
MIRT2471906	hsa-miR-300	CLIP-seq
MIRT2471907	hsa-miR-3119	CLIP-seq
MIRT1928584	hsa-miR-3145-3p	CLIP-seq
MIRT2471908	hsa-miR-324-5p	CLIP-seq
MIRT2471909	hsa-miR-338-5p	CLIP-seq
MIRT2471910	hsa-miR-34b	CLIP-seq
MIRT2471911	hsa-miR-3613-3p	CLIP-seq
MIRT2471913	hsa-miR-3661	CLIP-seq
MIRT2471914	hsa-miR-3679-5p	CLIP-seq
MIRT2471915	hsa-miR-374a	CLIP-seq
MIRT2471916	hsa-miR-374b	CLIP-seq
MIRT2471917	hsa-miR-381	CLIP-seq
MIRT2471918	hsa-miR-3922-5p	CLIP-seq
MIRT2471920	hsa-miR-3929	CLIP-seq
MIRT2471922	hsa-miR-4252	CLIP-seq
MIRT2471924	hsa-miR-4279	CLIP-seq
MIRT2169350	hsa-miR-4307	CLIP-seq
MIRT2471925	hsa-miR-4419b	CLIP-seq
MIRT2471927	hsa-miR-4428	CLIP-seq
MIRT2471929	hsa-miR-4478	CLIP-seq
MIRT2471930	hsa-miR-4502	CLIP-seq
MIRT2471934	hsa-miR-4666-3p	CLIP-seq
MIRT2471935	hsa-miR-4668-3p	CLIP-seq
MIRT2471936	hsa-miR-4731-3p	CLIP-seq
MIRT2471938	hsa-miR-4793-5p	CLIP-seq
MIRT2471940	hsa-miR-4801	CLIP-seq
MIRT2471941	hsa-miR-513a-3p	CLIP-seq
MIRT2471942	hsa-miR-548c-3p	CLIP-seq
MIRT2471943	hsa-miR-550a	CLIP-seq
MIRT2471946	hsa-miR-605	CLIP-seq
MIRT2471947	hsa-miR-616	CLIP-seq
MIRT2471948	hsa-miR-631	CLIP-seq
MIRT2471949	hsa-miR-649	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IDA	11306575
GO:0000049	Function	TRNA binding	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IDA	11741979
GO:0003723	Function	RNA binding	IEA
GO:0005125	Function	Cytokine activity	IEA
GO:0005125	Function	Cytokine activity	ISS	11306575
GO:0005515	Function	Protein binding	IPI	11741979, 22190034, 24312579, 25416956, 28514442, 32296183, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	ISS
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA	19289464
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006412	Process	Translation	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007267	Process	Cell-cell signaling	IDA	11741979
GO:0009986	Component	Cell surface	IDA	11741979
GO:0016020	Component	Membrane	HDA	19946888
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IDA	10791971, 14500886, 19131329
GO:0042803	Function	Protein homodimerization activity	IDA	11306575
GO:0048514	Process	Blood vessel morphogenesis	IEA
GO:0050900	Process	Leukocyte migration	IDA	11306575
GO:0051020	Function	GTPase binding	IPI	24337748
GO:0051607	Process	Defense response to virus	IEA
GO:0070094	Process	Positive regulation of glucagon secretion	ISS

MIM	HGNC	e!Ensembl
603605	10648	ENSG00000164022

Q12904

Protein name

Aminoacyl tRNA synthase complex-interacting multifunctional protein 1 (Multisynthase complex auxiliary component p43) [Cleaved into: Endothelial monocyte-activating polypeptide 2 (EMAP-2) (Endothelial monocyte-activating polypeptide II) (EMAP-II) (Small i

Protein function

Non-catalytic component of the multisynthase complex. Stimulates the catalytic activity of cytoplasmic arginyl-tRNA synthase (PubMed:10358004). Binds tRNA. Possesses inflammatory cytokine activity (PubMed:11306575). Negatively regulates TGF-beta

PDB

1E7Z , 1EUJ , 1FL0 , 4R3Z , 8J9S , 8ONG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01588	tRNA_bind	157 → 250	Putative tRNA binding domain	Domain

Sequence

MANNDAVLKRLEQKGAEADQIIEYLKQQVSLLKEKAILQATLREEKKLRVENAKLKKEIE
ELKQELIQAEIQNGVKQIPFPSGTPLHANSMVSENVIQSTAVTTVSSGTKEQIKGGTGDE
KKAKEKIEKKGEKKEKKQQSIAGSADSKPIDVSRLDLRIGCIITARKHPDADSLYVEEVD
VGEIAPRTVVSGLVNHVPLEQMQNRMVILLCNLKPAKMRGVLSQAMVMCASSPEKIEILA
PPNGSVPGDRITFDAFPGEPDKELNPKKKIWEQIQPDLHTNDECVATYKGVPFEVKGKGV
CRAQTMSNSGIK

Sequence length

312

Interactions

View interactions

	Reactome
			Cytosolic tRNA aminoacylation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AIMP1-related disorder	Likely pathogenic; Pathogenic	rs724159969, rs1287521576, rs750731609	RCV003422038 RCV003412424 RCV004753009	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypomyelinating leukodystrophy 3	Likely pathogenic; Pathogenic	rs724159969, rs766457850, rs879253867, rs387906865, rs750731609	RCV000149770 RCV003479471 RCV000235084 RCV000023320 RCV000721921	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypotonia	Pathogenic	rs2125920882	RCV001526596	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKODYSTROPHY, HYPOMYELINATING, 3	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELIZAEUS MERZBACHER LIKE DISEASE DUE TO AIMP1 MUTATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (84)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis cutis dyschromia	Amyloidosis Cutis Dyschromia	BEFREE	15520767		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	21110024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11292833, 20413730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11292833, 20413730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	11292833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy of corpus callosum	Atrophy Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	24816397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	15520767		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	15648093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10360668	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	14713345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10430623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16682815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15648093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24395571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24395571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16929248, 24395571	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	30924036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Cerebral Sclerosis of Schilder	Schilder disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24792437, 28348518, 28701921		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28436750	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24792437, 28348518, 28701921		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28436750	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29632473		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	40603987	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	16929248, 35068446	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27906773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26173967, 28236339, 30486714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	26173967	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	31287215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	30924036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29352840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	31394431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16682815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21110024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16682815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24395571		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10873516, 9892208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	27906773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10430623, 10493523, 10873516, 16682815, 17443684, 18951814, 24395571, 24792437, 9892208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	31394431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24958424, 26173967, 30486714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21110024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	Pelizaeus-Merzbacher disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2	Hypomyelinating Leukodystrophy	ORPHANET_DG	21092922		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2	Hypomyelinating Leukodystrophy	GENOMICS_ENGLAND_DG	21092922, 26173967, 30486714		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2	Hypomyelinating Leukodystrophy	CLINVAR_DG	26257172		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2	Hypomyelinating Leukodystrophy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	30924036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	30321057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12375327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31618474	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35068446	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16682815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	12714608	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveitis	Uveitis	BEFREE	9262239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	12714608	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

AIMP1 (aminoacyl tRNA synthetase complex interacting multifunctional protein 1)