HARS1 (histidyl-tRNA synthetase 1)

Gene

• Entrez ID: 3035
• Gene name: Histidyl-tRNA synthetase 1
• Gene symbol: HARS1
• Synonyms (NCBI Gene): CMT2W, HARS, HRS, USH3B
• 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 a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1131040	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs143473232	G>A,C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs191391414	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs863225122	G>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs863225123	A>C	Pathogenic	Coding sequence variant, missense variant
rs863225124	C>A	Pathogenic	Coding sequence variant, missense variant
rs1554107200	C>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1581504953	->AAC	Pathogenic	Inframe insertion, coding sequence variant
rs1581505917	C>-	Pathogenic	Coding sequence variant, splice acceptor variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
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	29235198
GO:0004821	Function	Histidine-tRNA ligase activity	IEA
GO:0004821	Function	Histidine-tRNA ligase activity	NAS	1549469, 7755634
GO:0004821	Function	Histidine-tRNA ligase activity	TAS
GO:0005524	Function	ATP binding	IDA	29235198
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	21464306
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	NAS	7755634
GO:0006418	Process	TRNA aminoacylation for protein translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006427	Process	Histidyl-tRNA aminoacylation	IBA
GO:0006427	Process	Histidyl-tRNA aminoacylation	IDA	29235198
GO:0006427	Process	Histidyl-tRNA aminoacylation	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	22958643
GO:0042803	Function	Protein homodimerization activity	IDA	29235198

Other IDs

• MIM: 142810
• HGNC: 4816
• e!Ensembl: ENSG00000170445

Protein

• UniProt ID: P12081
• Protein name: Histidine--tRNA ligase, cytoplasmic (EC 6.1.1.21) (Histidyl-tRNA synthetase) (HisRS)
• Protein function: 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) (PubMed:29235198). Plays a role in axon guidance (PubMed:26072516). {ECO:0000269|PubMed:26072
• PDB: 1X59, 2LW7, 4G84, 4G85, 4PHC, 4X5O, 5W6M, 6O76, 8YOR, 8YP1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00458	WHEP-TRS	7 → 53	WHEP-TRS domain	Domain
  PF13393	tRNA-synt_His	61 → 389	Histidyl-tRNA synthetase	Domain
  PF03129	HGTP_anticodon	410 → 501	Anticodon binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Brain, heart, liver and kidney.
• Sequence:

  MAERAALEELVKLQGERVRGLKQQKASAELIEEEVAKLLKLKAQLGPDESKQKFVLKTPK
  GTRDYSPRQMAVREKVFDVIIRCFKRHGAEVIDTPVFELKETLMGKYGEDSKLIYDLKDQ
  GGELLSLRYDLTVPFARYLAMNKLTNIKRYHIAKVYRRDNPAMTRGRYREFYQCDFDIAG
  NFDPMIPDAECLKIMCEILSSLQIGDFLVKVNDRRILDGMFAICGVSDSKFRTICSSVDK
  LDKVSWEEVKNEMVGEKGLAPEVADRIGDYVQQHGGVSLVEQLLQDPKLSQNKQALEGLG
  DLKLLFEYLTLFGIDDKISFDLSLARGLDYYTGVIYEAVLLQTPAQAGEEPLGVGSVAAG
  GRYDGLVGMFDPKGRKVPCVGLSIGVERIFSIVEQRLEALEEKIRTTETQVLVASAQKKL
  LEERLKLVSELWDAGIKAELLYKKNPKLLNQLQYCEEAGIPLVAIIGEQELKDGVIKLRS
  VTSREEVDVRREDLVEEIKRRTGQPLCIC

• Sequence length: 509

Pathways

KEGG:

Aminoacyl-tRNA biosynthesis

Reactome:

Cytosolic tRNA aminoacylation

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal dominant Charcot-Marie-Tooth disease type 2W	Likely pathogenic; Pathogenic	rs2149845009, rs771201777, rs143473232, rs863225122, rs863225123, rs863225124, rs1554107200	RCV002244106 RCV002284018 RCV000201522 RCV000201516 RCV000201520 RCV000201523 RCV000660862	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic ataxia	Pathogenic	rs1581504953, rs1131040, rs1581505917	RCV001644877 RCV001644875 RCV001644876	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease	Uncertain significance	ClinVar ClinVar, Disgenet ClinVar, Disgenet ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREOATHETOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PES CAVUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSARTHRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HARS1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HARS1-related multi-system ataxia syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NYSTAGMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pes cavus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa-deafness syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome type 3	Uncertain significance	ClinVar ClinGen, GWAS catalog, Orphanet ClinGen, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Usher syndrome type 3B	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
USHER SYNDROME, TYPE III	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IIIB	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Kidney Tubular Necrosis	Renal tubular necrosis	BEFREE	29303765		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	12594818		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	28100959		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	6241212		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29506740		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10430027, 17522890		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	33131414	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant Charcot-Marie-Tooth disease type 2W	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Blindness	Blindness	Pubtator	28632987	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24510587		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	24200848		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	1549469	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29125478		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	31078652, 31676023		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	28632987, 28934368, 29235198, 31501329		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W	Charcot-Marie-Tooth Disease	UNIPROT_DG	22930593, 26072516, 29235198		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W	Charcot-Marie-Tooth Disease	ORPHANET_DG	26072516		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W	Charcot-Marie-Tooth Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Citrullinemia	Citrullinemia	Pubtator	33131414	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	31211171		★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	14555530		★☆☆☆☆ Found in Text Mining only
Congenital long QT syndrome	Congenital Long QT Syndrome	BEFREE	24200848		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	28632987, 29142287	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	16192292		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	26079416		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31768550, 6241212		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28748382		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28143555		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31777896		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Gonadal dysgenesis XX type deafness	Gonadal Dysgenesis	BEFREE	23541340		★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	28632987		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemianopsia	Hemianopsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatorenal Syndrome	Hepatorenal Syndrome	BEFREE	29303765, 29668606, 30871566		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	36164730	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	12594818, 1692251		★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	22186711, 30560888, 31403245, 9218821		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31211171		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28844314, 29303765, 30606404		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	29303765		★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	24898250	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	24898250, 30560888		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24510587		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29125478		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	GWASDB_DG	24185611		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29932968		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	32199022	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31768550, 6241212		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	22124532		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	22124532		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	22279524, 22930593, 26072516, 27353947		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	24067379		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	10430027, 1721933, 22582345, 2476503, 24898250, 9287147		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	15804708, 24898250	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12444101, 12444102, 12594818, 1692251		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28934368		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	12444101		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	12444102		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29125478		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29125478	Associate	★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	19755917		★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	BEFREE	29235198		★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	22930593, 26072516, 31211171		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	26072516, 29235198, 31211171	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	22930593, 26072516, 31211171		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polymyositis	Polymyositis	LHGDN	12471150		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	26291516		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	26079416		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	30871566		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16192292		★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	25404053, 29142287		★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Usher syndrome type 3	Usher Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Usher Syndrome, Type III	Usher Syndrome	ORPHANET_DG	22279524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IIIB	Usher Syndrome	UNIPROT_DG	22279524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IIIB	Usher Syndrome	GENOMICS_ENGLAND_DG	22279524, 7755634		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IIIB	Usher Syndrome	BEFREE	28632987		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IIIB	Usher Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IIIB	Usher Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndromes	Usher syndrome	Pubtator	25404053, 32333447	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	29142287	Associate	★☆☆☆☆ Found in Text Mining only