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	79731
Gene name	Asparaginyl-tRNA synthetase 2, mitochondrial
Gene symbol	NARS2
Synonyms (NCBI Gene)	DFNB94SLM5asnRS
Chromosome	11
Chromosome location	11q14.1
Summary	This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is lik

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs201751992	T>C,G	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs367584549	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs535877562	C>T	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs565224393	A>C,G,T	Likely-pathogenic	Genic downstream transcript variant, stop gained, synonymous variant, coding sequence variant, non coding transcript variant
rs730882155	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs750594551	T>C	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs751383065	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant, stop gained
rs755122704	A>T	Pathogenic, likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs756725793	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs763770414	A>C,G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1035101172	C>A,G,T	Pathogenic	Splice donor variant
rs1057524183	G>A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1064796717	C>-	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1555047651	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1565216037	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant

Show/Hide all (39)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029094	hsa-miR-26b-5p	Microarray	19088304
MIRT031482	hsa-miR-16-5p	Proteomics	18668040
MIRT032305	hsa-let-7b-5p	Proteomics	18668040
MIRT1174231	hsa-miR-183	CLIP-seq
MIRT1174232	hsa-miR-28-3p	CLIP-seq
MIRT1174233	hsa-miR-31	CLIP-seq
MIRT1174234	hsa-miR-3647-3p	CLIP-seq
MIRT1174235	hsa-miR-3662	CLIP-seq
MIRT1174236	hsa-miR-3682-5p	CLIP-seq
MIRT1174237	hsa-miR-3973	CLIP-seq
MIRT1174238	hsa-miR-4428	CLIP-seq
MIRT1174239	hsa-miR-4659a-3p	CLIP-seq
MIRT1174240	hsa-miR-4659b-3p	CLIP-seq
MIRT1174241	hsa-miR-4719	CLIP-seq
MIRT1174242	hsa-miR-4760-3p	CLIP-seq
MIRT1174243	hsa-miR-548l	CLIP-seq
MIRT1174244	hsa-miR-579	CLIP-seq
MIRT2050418	hsa-miR-1278	CLIP-seq
MIRT2050419	hsa-miR-145	CLIP-seq
MIRT2050420	hsa-miR-3140-3p	CLIP-seq
MIRT2050421	hsa-miR-342-5p	CLIP-seq
MIRT1174234	hsa-miR-3647-3p	CLIP-seq
MIRT1174235	hsa-miR-3662	CLIP-seq
MIRT2050422	hsa-miR-4270	CLIP-seq
MIRT2050423	hsa-miR-4441	CLIP-seq
MIRT2050424	hsa-miR-4664-5p	CLIP-seq
MIRT2050425	hsa-miR-4724-5p	CLIP-seq
MIRT2050426	hsa-miR-4765	CLIP-seq
MIRT2050418	hsa-miR-1278	CLIP-seq
MIRT2279467	hsa-miR-2276	CLIP-seq
MIRT2050425	hsa-miR-4724-5p	CLIP-seq
MIRT2279468	hsa-miR-4772-3p	CLIP-seq
MIRT2279469	hsa-miR-544	CLIP-seq
MIRT2391352	hsa-miR-323-3p	CLIP-seq
MIRT2391353	hsa-miR-4652-3p	CLIP-seq
MIRT2391354	hsa-miR-4778-5p	CLIP-seq
MIRT2577691	hsa-miR-1279	CLIP-seq
MIRT2577692	hsa-miR-203	CLIP-seq
MIRT2577693	hsa-miR-4275	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004816	Function	Asparagine-tRNA ligase activity	IBA
GO:0004816	Function	Asparagine-tRNA ligase activity	IEA
GO:0004816	Function	Asparagine-tRNA ligase activity	ISS
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	25807530
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006412	Process	Translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	IEA
GO:0006421	Process	Asparaginyl-tRNA aminoacylation	IBA
GO:0006421	Process	Asparaginyl-tRNA aminoacylation	IEA
GO:0006421	Process	Asparaginyl-tRNA aminoacylation	ISS
GO:0016874	Function	Ligase activity	IEA

MIM	HGNC	e!Ensembl
612803	26274	ENSG00000137513

Q96I59

Protein name

Asparaginyl-tRNA synthetase (AsnRS) (NARS2) (EC 6.1.1.22) (Asparagine--tRNA ligase, mitochondrial)

Protein function

Mitochondrial aminoacyl-tRNA synthetase that catalyzes the specific attachment of the asparagine amino acid (aa) to the homologous transfer RNA (tRNA), further participating in protein synthesis (PubMed:25385316). The reaction occurs in a two st

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01336	tRNA_anti-codon	44 → 118	OB-fold nucleic acid binding domain	Domain
PF00152	tRNA-synt_2	135 → 472	tRNA synthetases class II (D, K and N)	Domain

Sequence

MLGVRCLLRSVRFCSSAPFPKHKPSAKLSVRDALGAQNASGERIKIQGWIRSVRSQKEVL
FLHVNDGSSLESLQVVADSGLDSRELNFGSSVEVQGQLIKSPSKRQNVELKAEKIKVIGN
CDAKDFPIKYKERHPLEYLRQYPHFRCRTNVLGSILRIRSEATAAIHSFFKDSGFVHIHT
PIITSNDSEGAGELFQLEPSGKLKVPEENFFNVPAFLTVSGQLHLEVMSGAFTQVFTFGP
TFRAENSQSRRHLAEFYMIEAEISFVDSLQDLMQVIEELFKATTMMVLSKCPEDVELCHK
FIAPGQKDRLEHMLKNNFLIISYTEAVEILKQASQNFTFTPEWGADLRTEHEKYLVKHCG
NIPVFVINYPLTLKPFYMRDNEDGPQHTVAAVDLLVPGVGELFGGGLREERYHFLEERLA
RSGLTEVYQWYLDLRRFGSVPHGGFGMGFERYLQCILGVDNIKDVIPFPRFPHSCLL

Sequence length

477

Interactions

View interactions

	KEGG
	Aminoacyl-tRNA biosynthesis

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined oxidative phosphorylation defect type 24	Pathogenic; Likely pathogenic	rs368911815, rs755975670, rs730882154, rs730882155, rs2496830227, rs2496352818, rs2496365964, rs1057524183, rs755122704, rs565224393, rs1565216037, rs1035101172, rs1565235204, rs763770414, rs748779965	RCV005237986 RCV002238663 RCV000162034 RCV000162035 RCV003110150 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing loss, autosomal recessive 94	Likely pathogenic; Pathogenic	rs952741388	RCV001270100	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Pathogenic	rs1555047651	RCV000626110	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial disease	Pathogenic	rs1260094866	RCV002463370	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NARS2-related disorder	Likely pathogenic; Pathogenic	rs755975670	RCV004758228	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (28)

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.
Acute myeloid leukemia	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 94	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEND SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS, AUTOSOMAL RECESSIVE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NARS2-related primary mitochondrial disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural hearing loss disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (61)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alpers Syndrome (disorder)	Alpers Syndrome	BEFREE	28077841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	25649651	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis	Arthritis	Pubtator	17393393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	30327238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	37950505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	30327238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	37950505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined oxidative phosphorylation defect type 24	Combined Oxidative Phosphorylation Deficiency	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Combined Oxidative Phosphorylation Deficiency 1	Combined Oxidative Phosphorylation Deficiency	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24	Combined Oxidative Phosphorylation Deficiency	GENOMICS_ENGLAND_DG	25385316, 25807530		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24	Combined Oxidative Phosphorylation Deficiency	UNIPROT_DG	25385316, 25629079, 25807530		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24	Combined Oxidative Phosphorylation Deficiency	ORPHANET_DG	25385316		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24	Combined Oxidative Phosphorylation Deficiency	CLINVAR_DG	25807530		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24	Combined Oxidative Phosphorylation Deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective Tissue Diseases	Connective tissue disease	Pubtator	17393393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	36252909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37950505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Cerebral Sclerosis of Schilder	Schilder disease	Pubtator	33596490	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28077841, 30327238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	37950505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematoma Subdural	Hematoma	Pubtator	37950505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	37950505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	37950505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	25807530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINGEN_DG	25807530, 29980628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	36675121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	CLINGEN_DG	25807530, 29980628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex II Deficiency	Leigh Syndrome	CLINGEN_DG	25807530, 29980628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINGEN_DG	25807530, 29980628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINGEN_DG	25807530, 29980628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Leigh Syndrome	CLINGEN_DG	25807530, 29980628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	17393393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	33883344	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic alkalosis	Metabolic alkalosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	Pubtator	33596490	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	Pubtator	36252909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	28077841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	17393393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing encephalopathy, infantile subacute, of Leigh	Necrotizing encephalomyelopathy	CLINGEN_DG	25807530, 29980628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	36252909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28077841, 30327238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	25807530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	25807530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	37950505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

NARS2 (asparaginyl-tRNA synthetase 2, mitochondrial)