GARS1 (glycyl-tRNA synthetase 1)

Gene

• Entrez ID: 2617
• Gene name: Glycyl-tRNA synthetase 1
• Gene symbol: GARS1
• Synonyms (NCBI Gene): CMT2D, DSMAV, GARS, GlyRS, HMN5, HMN5A, HMND5, SMAD1, SMAJI
• Chromosome: 7
• Chromosome location: 7p14.3
• Summary: This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs77518956	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs137852643	G>C	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs137852644	T>C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs137852645	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs137852646	G>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs137852647	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs137852648	C>T	Pathogenic	Missense variant, coding sequence variant
rs183573304	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs192443850	A>G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs200279483	A>G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200887429	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, 5 prime UTR variant
rs201358272	C>G,T	Pathogenic, uncertain-significance, benign	Missense variant, coding sequence variant
rs370057212	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs370608239	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs376324026	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance	Intron variant
rs376772628	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs762624758	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, 5 prime UTR variant
rs797044855	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs863224873	A>C,G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs886043231	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1057519166	C>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, synonymous variant
rs1060502838	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1060502839	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795123	T>C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1135401747	AGAA>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1135401748	G>A	Pathogenic	Missense variant, coding sequence variant
rs1554337974	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1554338260	A>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1554338262	T>A	Pathogenic	Coding sequence variant, missense variant
rs1554338272	G>A	Pathogenic	Splice donor variant
rs1554340340	G>A	Pathogenic	Splice donor variant
rs1584026191	G>C	Likely-pathogenic	Coding sequence variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004081	Function	Bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity	IDA	19710017
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004820	Function	Glycine-tRNA ligase activity	IBA
GO:0004820	Function	Glycine-tRNA ligase activity	IDA	17544401, 17545306, 19710017
GO:0004820	Function	Glycine-tRNA ligase activity	IEA
GO:0004820	Function	Glycine-tRNA ligase activity	IMP	28675565
GO:0005515	Function	Protein binding	IPI	17545306, 17595294, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	7961834
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006412	Process	Translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	IMP	28675565
GO:0006426	Process	Glycyl-tRNA aminoacylation	IEA
GO:0006426	Process	Glycyl-tRNA aminoacylation	IEA
GO:0015966	Process	Diadenosine tetraphosphate biosynthetic process	IDA	19710017
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0030141	Component	Secretory granule	IEA
GO:0030424	Component	Axon	IDA	17035524
GO:0030424	Component	Axon	IEA
GO:0042802	Function	Identical protein binding	IPI	17545306, 17595294
GO:0042995	Component	Cell projection	IEA
GO:0046983	Function	Protein dimerization activity	IDA	17544401, 17545306
GO:0070062	Component	Extracellular exosome	IEA
GO:0070062	Component	Extracellular exosome	ISS
GO:0070150	Process	Mitochondrial glycyl-tRNA aminoacylation	IBA
GO:0141192	Function	ATP:ATP adenylyltransferase activity	IEA

Other IDs

• MIM: 600287
• HGNC: 4162
• e!Ensembl: ENSG00000106105

Protein

• UniProt ID: P41250
• Protein name: Glycine--tRNA ligase (EC 6.1.1.14) (Diadenosine tetraphosphate synthetase) (Ap4A synthetase) (EC 2.7.7.-) (Glycyl-tRNA synthetase) (GlyRS) (Glycyl-tRNA synthetase 1)
• Protein function: Catalyzes the ATP-dependent ligation of glycine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (Gly-AMP) (PubMed:17544401, PubMed:24898252, PubMed:28675565). Also produces diadenosine tetraphosphate (
• PDB: 2PME, 2PMF, 2Q5H, 2Q5I, 2ZT5, 2ZT6, 2ZT7, 2ZT8, 2ZXF, 4KQE, 4KR2, 4KR3, 4QEI, 5E6M
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00458	WHEP-TRS	67 → 117	WHEP-TRS domain	Domain
  PF00587	tRNA-synt_2b	291 → 592	tRNA synthetase class II core domain (G, H, P, S and T)	Domain
  PF03129	HGTP_anticodon	615 → 709	Anticodon binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, including in brain and spinal cord. {ECO:0000269|PubMed:12690580}.; TISSUE SPECIFICITY: [Isoform 2]: Expressed in brain, spinal cord, muscle, heart and spleen. {ECO:0000269|PubMed:26327585}.; TISSUE SPECIFICITY: [Isof
• Sequence:

  MPSPRPVLLRGARAALLLLLPPRLLARPSLLLRRSLSAASCPPISLPAAASRSSMDGAGA
  EEVLAPLRLAVRQQGDLVRKLKEDKAPQVDVDKAVAELKARKRVLEAKELALQPKDDIVD
  RAKMEDTLKRRFFYDQAFAIYGGVSGLYDFGPVGCALKNNIIQTWRQHFIQEEQILEIDC
  TMLTPEPVLKTSGHVDKFADFMVKDVKNGECFRADHLLKAHLQKLMSDKKCSVEKKSEME
  SVLAQLDNYGQQELADLFVNYNVKSPITGNDLSPPVSFNLMFKTFIGPGGNMPGYLRPET
  AQGIFLNFKRLLEFNQGKLPFAAAQIGNSFRNEISPRSGLIRVREFTMAEIEHFVDPSEK
  DHPKFQNVADLHLYLYSAKAQVSGQSARKMRLGDAVEQGVINNTVLGYFIGRIYLYLTKV
  GISPDKLRFRQHMENEMAHYACDCWDAESKTSYGWIEIVGCADRSCYDLSCHARATKVPL
  VAEKPLKEPKTVNVVQFEPSKGAIGKAYKKDAKLVMEYLAICDECYITEMEMLLNEKGEF
  TIETEGKTFQLTKDMINVKRFQKTLYVEEVVPNVIEPSFGLGRIMYTVFEHTFHVREGDE
  QRTFFSFPAVVAPFKCSVLPLSQNQEFMPFVKELSEALTRHGVSHKVDDSSGSIGRRYAR
  TDEIGVAFGVTIDFDTVNKTPHTATLRDRDSMRQIRAEISELPSIVQDLANGNITWADVE
  ARYPLFEGQETGKKETIEE

• Sequence length: 739

Pathways

KEGG:

Aminoacyl-tRNA biosynthesis

Reactome:

Cytosolic tRNA aminoacylation
Mitochondrial 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
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs137852643, rs137852644, rs1060502838, rs1554338260, rs1554337974, rs1554337369	RCV000789142 RCV000857175 RCV000789777 RCV000789773 RCV000789776 RCV000789775	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 2	Likely pathogenic; Pathogenic	rs2128134030, rs2128134025, rs137852643, rs137852646, rs2534306033, rs1060502838, rs1060502839, rs1064795123, rs1554338260, rs1554337974, rs1554338262, rs1554338641, rs1554337369, rs1584034430	RCV005095142 RCV003032499 RCV000692132 RCV002228024 RCV003581439 RCV000459084 RCV000468725 RCV000558281 RCV000529259 RCV000533118 RCV000653928 RCV000653955 RCV001038534 RCV000819141 RCV001034922 RCV001231694	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 2D	Pathogenic; Likely pathogenic	rs2128134025, rs863224873, rs137852643, rs137852644, rs137852646, rs1060502838, rs1554338260, rs1554338262, rs1584034430, rs1554337974	RCV001838853 RCV000195583 RCV000009782 RCV003332077 RCV001542258 RCV003332179 RCV001542256 RCV001334991 RCV005253645 RCV001265531	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal spinal muscular atrophy	Pathogenic	rs137852646, rs1060502838, rs1554338260	RCV000790258 RCV000790256 RCV000790255	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GARS-associated growth retardation and developmental delay	Pathogenic	rs1135401747	RCV000496467	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronopathy, distal hereditary motor, type 5	Pathogenic; Likely pathogenic	rs1554338260, rs1554337974, rs1554337369	RCV003447145 RCV003447146 RCV003447259	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronopathy, distal hereditary motor, type 5A	Likely pathogenic; Pathogenic	rs2128134030, rs863224873, rs137852644, rs137852646, rs1060502838, rs1554338260, rs1584026191, rs1584034430	RCV003314018 RCV000195583 RCV000009783 RCV000009786 RCV000664213 RCV001770486 RCV000788053 RCV001823170	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinal muscular atrophy, infantile, James type	Pathogenic; Likely pathogenic	rs797044855, rs1554338262, rs1783251037	RCV001260977 RCV001260980 RCV001260981	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2D	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT DISTAL HEREDITARY MOTOR NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 5	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2D	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, type I	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PES CAVUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GARS-Associated Axonal Neuropathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GARS1-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GARS1-related neuropathies	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY-NEUROPATHY TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary motor neuron disease	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor neuron disease	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuronopathy, distal hereditary motor, autosomal dominant	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 5	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral axonal neuropathy	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pes cavus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tip-toe gait	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult type dermatomyositis	Dermatomyositis	BEFREE	7961834		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	11231025		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	21414903, 22072396		★☆☆☆☆ Found in Text Mining only
Amyotrophy, monomelic	Monomelic Amyotrophy	BEFREE	19412816		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	22462675	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant Charcot-Marie-Tooth disease type 2D	Charcot-Marie-Tooth Disease	BEFREE	28594869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	21527583, 26134759		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	LHGDN	12690580		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	16769947, 16982418, 17545306, 17595294, 17663003, 19329989, 19470612, 21737751, 22144914, 24669931, 24807208, 25972375, 26138142, 26244500, 27008886, 27862672, 28675565, 29415205, 29520015, 30239612, 30394614, 31173493, 31501329, 8872480		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease, Type 2D	Charcot-Marie-Tooth disease	BEFREE	12690580, 16982418, 17035524, 22144914, 25168514, 26000875, 28835631, 29520015, 29520219, 31173493, 31557132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 2D	Charcot-Marie-Tooth disease	UNIPROT_DG	12690580, 17035524, 17101916, 17663003, 20169446, 24604904, 25168514, 26244500, 26503042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 2D	Charcot-Marie-Tooth disease	CLINVAR_DG	17101916, 17544401, 17595294, 21737751, 24669931, 26633545		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 2D	Charcot-Marie-Tooth disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatomyositis	Dermatomyositis	BEFREE	7961834		★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal Hereditary Motor Neuropathy Type II	Distal hereditary motor neuropathy	Pubtator	31628756	Associate	★☆☆☆☆ Found in Text Mining only
Distal Spinal Muscular Atrophy	Distal Spinal Muscular Atrophy	BEFREE	10400924, 24669931		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Down Syndrome	Down syndrome	Pubtator	22931243	Associate	★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	15242882, 17663003		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	28675565	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	11231025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	10520946, 9219740, 9409358, 9595994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	CLINVAR_DG	16014653, 17035524, 17101916, 17595294, 21737751, 24604904, 25168514, 26138142, 26244500, 26503042, 27008886		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperekplexia	Hyperekplexia	Pubtator	35526563	Associate	★☆☆☆☆ Found in Text Mining only
Hyperexplexia hereditary	Hyperexplexia hereditary	Pubtator	7518444	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	11231025		★☆☆☆☆ Found in Text Mining only
Juvenile amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	10908191		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30008908		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	29666468	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36901698	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21527583, 26134759		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	11231025		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	24669931		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	24669931, 25058219, 28594869	Associate	★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	17101916		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	12690580	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Multiple Myeloma	Multiple myeloma	BEFREE	28489849		★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	28675565	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	17544401, 24669931, 32181591	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	15911698		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	7961834		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19773112		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	31985473	Associate	★☆☆☆☆ Found in Text Mining only
Neuronopathy Distal Hereditary Motor Type I	Distal hereditary motor neuropathy	Pubtator	19412816	Associate	★☆☆☆☆ Found in Text Mining only
Neuronopathy Distal Hereditary Motor Type V	Distal hereditary motor neuropathy	Pubtator	12690580, 17663003, 22462675, 28594869, 31985473	Associate	★☆☆☆☆ Found in Text Mining only
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	Neuronopathy	BEFREE	10908191, 12690580, 15242882, 16769947, 17035524, 17663003, 19470612, 22462675, 23279345, 26244500, 28594869, 30083128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	Neuronopathy	ORPHANET_DG	12690580		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	Neuronopathy	UNIPROT_DG	12690580, 17035524, 23279345, 24627108, 26503042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	Neuronopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	Neuronopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuropathy	Neuropathy	BEFREE	16982418, 19329989, 22144914, 24807208, 25168514, 26244500, 29520015, 8872480		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	15892165		★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	31628756		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	16982418, 19470612, 21737751, 31557132		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	21737751	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	19470612, 31557132		★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Motor	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36901698	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30046030		★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	17663003		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	31628756		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 17	Spastic Paraplegia	BEFREE	15242882, 17663003		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	19412816, 22462675	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	LHGDN	12690580		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	30239612		★☆☆☆☆ Found in Text Mining only
Spinal muscular atrophy Jerash type	Spinal muscular atrophy	Pubtator	31628756	Associate	★☆☆☆☆ Found in Text Mining only
Upper limb amyotrophy	Limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only