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	23438
Gene name	Histidyl-tRNA synthetase 2, mitochondrial
Gene symbol	HARS2
Synonyms (NCBI Gene)	HARSLHARSRHO3HisRSPRLTS2
Chromosome	5
Chromosome location	5q31.3
Summary	Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-tran

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61736946	G>C	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs140540222	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, intron variant, 5 prime UTR variant
rs200089613	G>A,T	Likely-benign, likely-pathogenic	Missense variant, coding sequence variant
rs376177973	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs397515410	C>G	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs754069818	C>T	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs778499309	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs863224040	G>A	Pathogenic	Splice donor variant
rs973137103	A>G	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1432653451	G>A	Likely-pathogenic	Coding sequence variant, missense variant, intron variant, 5 prime UTR variant
rs1581550832	T>GTATCCCTAGTATTTCTACTA	Likely-pathogenic	Inframe insertion, coding sequence variant, stop gained

240

Show/Hide all (240)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001459	hsa-miR-16-5p	pSILAC	18668040
MIRT001459	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT042251	hsa-miR-484	CLASH	23622248
MIRT1040804	hsa-miR-1225-5p	CLIP-seq
MIRT1040805	hsa-miR-1276	CLIP-seq
MIRT1040806	hsa-miR-1283	CLIP-seq
MIRT1040807	hsa-miR-15a	CLIP-seq
MIRT1040808	hsa-miR-15b	CLIP-seq
MIRT1040809	hsa-miR-16	CLIP-seq
MIRT1040810	hsa-miR-195	CLIP-seq
MIRT1040811	hsa-miR-2278	CLIP-seq
MIRT1040812	hsa-miR-3125	CLIP-seq
MIRT1040813	hsa-miR-3168	CLIP-seq
MIRT1040814	hsa-miR-3180-5p	CLIP-seq
MIRT1040815	hsa-miR-3611	CLIP-seq
MIRT1040816	hsa-miR-3916	CLIP-seq
MIRT1040817	hsa-miR-424	CLIP-seq
MIRT1040818	hsa-miR-4269	CLIP-seq
MIRT1040819	hsa-miR-4277	CLIP-seq
MIRT1040820	hsa-miR-4477a	CLIP-seq
MIRT1040821	hsa-miR-4496	CLIP-seq
MIRT1040822	hsa-miR-4514	CLIP-seq
MIRT1040823	hsa-miR-4659a-5p	CLIP-seq
MIRT1040824	hsa-miR-4659b-5p	CLIP-seq
MIRT1040825	hsa-miR-4692	CLIP-seq
MIRT1040826	hsa-miR-4742-5p	CLIP-seq
MIRT1040827	hsa-miR-4762-5p	CLIP-seq
MIRT1040828	hsa-miR-4769-3p	CLIP-seq
MIRT1040829	hsa-miR-4777-5p	CLIP-seq
MIRT1040830	hsa-miR-497	CLIP-seq
MIRT1040831	hsa-miR-518d-5p	CLIP-seq
MIRT1040832	hsa-miR-519b-5p	CLIP-seq
MIRT1040833	hsa-miR-519c-5p	CLIP-seq
MIRT1040834	hsa-miR-520a-5p	CLIP-seq
MIRT1040835	hsa-miR-520c-5p	CLIP-seq
MIRT1040836	hsa-miR-520d-5p	CLIP-seq
MIRT1040837	hsa-miR-524-5p	CLIP-seq
MIRT1040838	hsa-miR-525-5p	CLIP-seq
MIRT1040839	hsa-miR-526a	CLIP-seq
MIRT1040840	hsa-miR-877	CLIP-seq
MIRT1040841	hsa-miR-922	CLIP-seq
MIRT2008522	hsa-miR-1182	CLIP-seq
MIRT2008523	hsa-miR-1183	CLIP-seq
MIRT2008524	hsa-miR-1266	CLIP-seq
MIRT2008525	hsa-miR-1289	CLIP-seq
MIRT2008526	hsa-miR-139-5p	CLIP-seq
MIRT2008527	hsa-miR-193a-5p	CLIP-seq
MIRT2008528	hsa-miR-3130-3p	CLIP-seq
MIRT2008529	hsa-miR-3688-3p	CLIP-seq
MIRT2008530	hsa-miR-3908	CLIP-seq
MIRT1040819	hsa-miR-4277	CLIP-seq
MIRT2008531	hsa-miR-4433	CLIP-seq
MIRT2008532	hsa-miR-4518	CLIP-seq
MIRT2008533	hsa-miR-4704-5p	CLIP-seq
MIRT1040829	hsa-miR-4777-5p	CLIP-seq
MIRT2008534	hsa-miR-4793-3p	CLIP-seq
MIRT1040831	hsa-miR-518d-5p	CLIP-seq
MIRT1040832	hsa-miR-519b-5p	CLIP-seq
MIRT1040833	hsa-miR-519c-5p	CLIP-seq
MIRT1040835	hsa-miR-520c-5p	CLIP-seq
MIRT1040839	hsa-miR-526a	CLIP-seq
MIRT2008535	hsa-miR-544	CLIP-seq
MIRT2008536	hsa-miR-582-5p	CLIP-seq
MIRT2008537	hsa-miR-665	CLIP-seq
MIRT1040840	hsa-miR-877	CLIP-seq
MIRT1040806	hsa-miR-1283	CLIP-seq
MIRT2240985	hsa-miR-1827	CLIP-seq
MIRT2240986	hsa-miR-183	CLIP-seq
MIRT1040811	hsa-miR-2278	CLIP-seq
MIRT2240987	hsa-miR-298	CLIP-seq
MIRT1040812	hsa-miR-3125	CLIP-seq
MIRT2008528	hsa-miR-3130-3p	CLIP-seq
MIRT1040813	hsa-miR-3168	CLIP-seq
MIRT1040814	hsa-miR-3180-5p	CLIP-seq
MIRT2240988	hsa-miR-3612	CLIP-seq
MIRT2008529	hsa-miR-3688-3p	CLIP-seq
MIRT1040816	hsa-miR-3916	CLIP-seq
MIRT1040819	hsa-miR-4277	CLIP-seq
MIRT1040820	hsa-miR-4477a	CLIP-seq
MIRT1040821	hsa-miR-4496	CLIP-seq
MIRT2240989	hsa-miR-4519	CLIP-seq
MIRT2240990	hsa-miR-4695-5p	CLIP-seq
MIRT1040829	hsa-miR-4777-5p	CLIP-seq
MIRT2008534	hsa-miR-4793-3p	CLIP-seq
MIRT2240991	hsa-miR-4799-5p	CLIP-seq
MIRT2240992	hsa-miR-4802-5p	CLIP-seq
MIRT1040831	hsa-miR-518d-5p	CLIP-seq
MIRT1040832	hsa-miR-519b-5p	CLIP-seq
MIRT1040833	hsa-miR-519c-5p	CLIP-seq
MIRT1040834	hsa-miR-520a-5p	CLIP-seq
MIRT1040835	hsa-miR-520c-5p	CLIP-seq
MIRT1040836	hsa-miR-520d-5p	CLIP-seq
MIRT2240993	hsa-miR-522	CLIP-seq
MIRT1040837	hsa-miR-524-5p	CLIP-seq
MIRT1040838	hsa-miR-525-5p	CLIP-seq
MIRT1040839	hsa-miR-526a	CLIP-seq
MIRT2008535	hsa-miR-544	CLIP-seq
MIRT2240994	hsa-miR-564	CLIP-seq
MIRT2240995	hsa-miR-650	CLIP-seq
MIRT2240996	hsa-miR-765	CLIP-seq
MIRT1040840	hsa-miR-877	CLIP-seq
MIRT2008522	hsa-miR-1182	CLIP-seq
MIRT2544481	hsa-miR-1226	CLIP-seq
MIRT2008524	hsa-miR-1266	CLIP-seq
MIRT2008525	hsa-miR-1289	CLIP-seq
MIRT2544482	hsa-miR-1324	CLIP-seq
MIRT2544483	hsa-miR-1343	CLIP-seq
MIRT2008526	hsa-miR-139-5p	CLIP-seq
MIRT2240985	hsa-miR-1827	CLIP-seq
MIRT2008527	hsa-miR-193a-5p	CLIP-seq
MIRT2544484	hsa-miR-197	CLIP-seq
MIRT2544485	hsa-miR-1972	CLIP-seq
MIRT2544486	hsa-miR-216a	CLIP-seq
MIRT2544487	hsa-miR-219-5p	CLIP-seq
MIRT2544488	hsa-miR-2355-5p	CLIP-seq
MIRT2240987	hsa-miR-298	CLIP-seq
MIRT2544489	hsa-miR-3074-3p	CLIP-seq
MIRT2008528	hsa-miR-3130-3p	CLIP-seq
MIRT2544490	hsa-miR-3138	CLIP-seq
MIRT2544491	hsa-miR-3200-3p	CLIP-seq
MIRT2544492	hsa-miR-320a	CLIP-seq
MIRT2544493	hsa-miR-320b	CLIP-seq
MIRT2544494	hsa-miR-320c	CLIP-seq
MIRT2544495	hsa-miR-320d	CLIP-seq
MIRT2544496	hsa-miR-330-3p	CLIP-seq
MIRT2240988	hsa-miR-3612	CLIP-seq
MIRT2544497	hsa-miR-361-5p	CLIP-seq
MIRT2544498	hsa-miR-3620	CLIP-seq
MIRT2544499	hsa-miR-3667-3p	CLIP-seq
MIRT2544500	hsa-miR-3675-3p	CLIP-seq
MIRT2544501	hsa-miR-371-5p	CLIP-seq
MIRT2544502	hsa-miR-371b-5p	CLIP-seq
MIRT2544503	hsa-miR-3909	CLIP-seq
MIRT1040819	hsa-miR-4277	CLIP-seq
MIRT2544504	hsa-miR-4317	CLIP-seq
MIRT2544505	hsa-miR-4323	CLIP-seq
MIRT2544506	hsa-miR-4429	CLIP-seq
MIRT2008531	hsa-miR-4433	CLIP-seq
MIRT2544507	hsa-miR-4445	CLIP-seq
MIRT1040820	hsa-miR-4477a	CLIP-seq
MIRT2008532	hsa-miR-4518	CLIP-seq
MIRT1040823	hsa-miR-4659a-5p	CLIP-seq
MIRT1040824	hsa-miR-4659b-5p	CLIP-seq
MIRT2544508	hsa-miR-4684-5p	CLIP-seq
MIRT2240990	hsa-miR-4695-5p	CLIP-seq
MIRT2544509	hsa-miR-4698	CLIP-seq
MIRT2008533	hsa-miR-4704-5p	CLIP-seq
MIRT2544510	hsa-miR-4733-3p	CLIP-seq
MIRT2544511	hsa-miR-4749-3p	CLIP-seq
MIRT2544512	hsa-miR-4752	CLIP-seq
MIRT2544513	hsa-miR-4766-5p	CLIP-seq
MIRT2544514	hsa-miR-4782-3p	CLIP-seq
MIRT2008534	hsa-miR-4793-3p	CLIP-seq
MIRT2544515	hsa-miR-4794	CLIP-seq
MIRT2544516	hsa-miR-4800-5p	CLIP-seq
MIRT2240992	hsa-miR-4802-5p	CLIP-seq
MIRT2544517	hsa-miR-508-3p	CLIP-seq
MIRT2544518	hsa-miR-515-5p	CLIP-seq
MIRT2240993	hsa-miR-522	CLIP-seq
MIRT2008535	hsa-miR-544	CLIP-seq
MIRT2544519	hsa-miR-548ae	CLIP-seq
MIRT2544520	hsa-miR-548aj	CLIP-seq
MIRT2544521	hsa-miR-548am	CLIP-seq
MIRT2544522	hsa-miR-548x	CLIP-seq
MIRT2008536	hsa-miR-582-5p	CLIP-seq
MIRT2544523	hsa-miR-626	CLIP-seq
MIRT2240995	hsa-miR-650	CLIP-seq
MIRT2544524	hsa-miR-651	CLIP-seq
MIRT2008537	hsa-miR-665	CLIP-seq
MIRT2240996	hsa-miR-765	CLIP-seq
MIRT2544525	hsa-miR-938	CLIP-seq
MIRT2008522	hsa-miR-1182	CLIP-seq
MIRT2544481	hsa-miR-1226	CLIP-seq
MIRT2008524	hsa-miR-1266	CLIP-seq
MIRT2008525	hsa-miR-1289	CLIP-seq
MIRT2544482	hsa-miR-1324	CLIP-seq
MIRT2544483	hsa-miR-1343	CLIP-seq
MIRT2008526	hsa-miR-139-5p	CLIP-seq
MIRT2240985	hsa-miR-1827	CLIP-seq
MIRT2008527	hsa-miR-193a-5p	CLIP-seq
MIRT2544484	hsa-miR-197	CLIP-seq
MIRT2544485	hsa-miR-1972	CLIP-seq
MIRT2544486	hsa-miR-216a	CLIP-seq
MIRT2544487	hsa-miR-219-5p	CLIP-seq
MIRT2544488	hsa-miR-2355-5p	CLIP-seq
MIRT2240987	hsa-miR-298	CLIP-seq
MIRT2544489	hsa-miR-3074-3p	CLIP-seq
MIRT2008528	hsa-miR-3130-3p	CLIP-seq
MIRT2544490	hsa-miR-3138	CLIP-seq
MIRT2544491	hsa-miR-3200-3p	CLIP-seq
MIRT2544492	hsa-miR-320a	CLIP-seq
MIRT2544493	hsa-miR-320b	CLIP-seq
MIRT2544494	hsa-miR-320c	CLIP-seq
MIRT2544495	hsa-miR-320d	CLIP-seq
MIRT2544496	hsa-miR-330-3p	CLIP-seq
MIRT2240988	hsa-miR-3612	CLIP-seq
MIRT2544497	hsa-miR-361-5p	CLIP-seq
MIRT2544498	hsa-miR-3620	CLIP-seq
MIRT2544499	hsa-miR-3667-3p	CLIP-seq
MIRT2544500	hsa-miR-3675-3p	CLIP-seq
MIRT2544501	hsa-miR-371-5p	CLIP-seq
MIRT2544502	hsa-miR-371b-5p	CLIP-seq
MIRT2544503	hsa-miR-3909	CLIP-seq
MIRT1040819	hsa-miR-4277	CLIP-seq
MIRT2544504	hsa-miR-4317	CLIP-seq
MIRT2544506	hsa-miR-4429	CLIP-seq
MIRT2008531	hsa-miR-4433	CLIP-seq
MIRT2544507	hsa-miR-4445	CLIP-seq
MIRT1040820	hsa-miR-4477a	CLIP-seq
MIRT2008532	hsa-miR-4518	CLIP-seq
MIRT1040823	hsa-miR-4659a-5p	CLIP-seq
MIRT1040824	hsa-miR-4659b-5p	CLIP-seq
MIRT2544508	hsa-miR-4684-5p	CLIP-seq
MIRT2240990	hsa-miR-4695-5p	CLIP-seq
MIRT2544509	hsa-miR-4698	CLIP-seq
MIRT2008533	hsa-miR-4704-5p	CLIP-seq
MIRT2544510	hsa-miR-4733-3p	CLIP-seq
MIRT2544511	hsa-miR-4749-3p	CLIP-seq
MIRT2544512	hsa-miR-4752	CLIP-seq
MIRT2544513	hsa-miR-4766-5p	CLIP-seq
MIRT2544514	hsa-miR-4782-3p	CLIP-seq
MIRT2008534	hsa-miR-4793-3p	CLIP-seq
MIRT2544515	hsa-miR-4794	CLIP-seq
MIRT2544516	hsa-miR-4800-5p	CLIP-seq
MIRT2240992	hsa-miR-4802-5p	CLIP-seq
MIRT2544517	hsa-miR-508-3p	CLIP-seq
MIRT2544518	hsa-miR-515-5p	CLIP-seq
MIRT2240993	hsa-miR-522	CLIP-seq
MIRT2008535	hsa-miR-544	CLIP-seq
MIRT2544519	hsa-miR-548ae	CLIP-seq
MIRT2544520	hsa-miR-548aj	CLIP-seq
MIRT2544521	hsa-miR-548am	CLIP-seq
MIRT2544522	hsa-miR-548x	CLIP-seq
MIRT2008536	hsa-miR-582-5p	CLIP-seq
MIRT2544523	hsa-miR-626	CLIP-seq
MIRT2240995	hsa-miR-650	CLIP-seq
MIRT2544524	hsa-miR-651	CLIP-seq
MIRT2008537	hsa-miR-665	CLIP-seq
MIRT2240996	hsa-miR-765	CLIP-seq
MIRT2544525	hsa-miR-938	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IBA
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004821	Function	Histidine-tRNA ligase activity	IBA
GO:0004821	Function	Histidine-tRNA ligase activity	IDA	21464306
GO:0004821	Function	Histidine-tRNA ligase activity	IEA
GO:0004821	Function	Histidine-tRNA ligase activity	NAS	7755634
GO:0004821	Function	Histidine-tRNA ligase activity	TAS
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	21464306
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	NAS	7755634
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006427	Process	Histidyl-tRNA aminoacylation	IBA
GO:0006427	Process	Histidyl-tRNA aminoacylation	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0032543	Process	Mitochondrial translation	IBA

MIM	HGNC	e!Ensembl
600783	4817	ENSG00000112855

P49590

Protein name

Histidine--tRNA ligase, mitochondrial (EC 6.1.1.21) (Histidine--tRNA ligase-like) (Histidyl-tRNA synthetase) (HisRS)

Protein function

Mitochondrial aminoacyl-tRNA synthetase that catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13393	tRNA-synt_His	62 → 390	Histidyl-tRNA synthetase	Domain
PF03129	HGTP_anticodon	411 → 502	Anticodon binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: A high level expression is seen in the heart, kidney and skeletal muscle while a lower level expression is seen in the brain and liver.

Sequence

MPLLGLLPRRAWASLLSQLLRPPCASCTGAVRCQSQVAEAVLTSQLKAHQEKPNFIIKTP
KGTRDLSPQHMVVREKILDLVISCFKRHGAKGMDTPAFELKETLTEKYGEDSGLMYDLKD
QGGELLSLRYDLTVPFARYLAMNKVKKMKRYHVGKVWRRESPTIVQGRYREFCQCDFDIA
GQFDPMIPDAECLKIMCEILSGLQLGDFLIKVNDRRIVDGMFAVCGVPESKFRAICSSID
KLDKMAWKDVRHEMVVKKGLAPEVADRIGDYVQCHGGVSLVEQMFQDPRLSQNKQALEGL
GDLKLLFEYLTLFGIADKISFDLSLARGLDYYTGVIYEAVLLQTPTQAGEEPLNVGSVAA
GGRYDGLVGMFDPKGHKVPCVGLSIGVERIFYIVEQRMKTKGEKVRTTETQVFVATPQKN
FLQERLKLIAELWDSGIKAEMLYKNNPKLLTQLHYCESTGIPLVVIIGEQELKEGVIKIR
SVASREEVAIKRENFVAEIQKRLSES

Sequence length

506

Interactions

View interactions

	KEGG		Reactome
	Aminoacyl-tRNA biosynthesis		Mitochondrial 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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Gastric cancer	Likely pathogenic; Pathogenic	rs376181876	RCV005928318	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Perrault syndrome	Likely pathogenic; Pathogenic	rs376177973, rs397515410	RCV002517027 RCV002513308	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Perrault syndrome 2	Likely pathogenic; Pathogenic	rs2149852789, rs748402163, rs376181876, rs376177973, rs563477361, rs397515410, rs1562047621, rs754069818, rs778499309, rs1229581230	RCV001822945 RCV001822946 RCV004808536 RCV000206915 RCV003156714 RCV000032820 RCV000782170 RCV000782172 RCV000782171 RCV001261943	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sensorineural hearing loss disorder	Likely pathogenic	rs1581536078, rs1581550832	RCV000853541 RCV000853539	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

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.
GONADAL DYSGENESIS XX TYPE DEAFNESS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HARS2-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME 3	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME 4	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME TYPE 1	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME TYPE 2	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IIIB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XX GONADAL DYSGENESIS-DEAFNESS SYNDROME-PROGRESSIVE NEUROLOGICAL MANIFESTATIONS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Deafness	Associate	31819004, 33228777	★★★★★ ★☆☆☆☆ Found in Text Mining only
Genetic Diseases Inborn	Associate	28178980	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	26264438	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal dysgenesis XX type deafness	Associate	23541340, 26657938, 27087618, 31827252, 33228777	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Associate	31827252	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Associate	31827252, 33228777	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Associate	17665459	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Associate	31819004	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Associate	33228777	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pathological Conditions Anatomical	Associate	31827252	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Associate	31827252	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Ovarian Insufficiency	Associate	31827252	★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Insufficiency	Associate	31819004	★★★★★ ★☆☆☆☆ Found in Text Mining only

HARS2 (histidyl-tRNA synthetase 2, mitochondrial)