AARS1 (alanyl-tRNA synthetase 1)

Gene

• Entrez ID: 16
• Gene name: Alanyl-tRNA synthetase 1
• Gene symbol: AARS1
• Synonyms (NCBI Gene): AARS, CMT2N, DEE29, EIEE29, HDLS2, TTD8
• Chromosome: 16
• Chromosome location: 16q22.1
• Summary: The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide hu

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs115882953	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant, missense variant
rs138081804	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs143370729	T>C	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs147319762	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs150080663	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs199976742	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs267606621	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs387906792	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs576221121	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs750552137	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant
rs758183257	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs763937206	AGTAA>-	Likely-pathogenic	Inframe indel, coding sequence variant, stop gained, non coding transcript variant
rs765398055	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs771059047	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs777601008	G>A	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs786205157	T>G	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs797044801	T>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs1064795664	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1480620711	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1555542415	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1597434047	->A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IEA
GO:0000049	Function	TRNA binding	TAS	7654687
GO:0000166	Function	Nucleotide binding	IEA
GO:0002161	Function	Aminoacyl-tRNA deacylase activity	IBA
GO:0002161	Function	Aminoacyl-tRNA deacylase activity	IDA	28493438
GO:0002161	Function	Aminoacyl-tRNA deacylase activity	IEA
GO:0002196	Function	Ser-tRNA(Ala) deacylase activity	IEA
GO:0002196	Function	Ser-tRNA(Ala) deacylase activity	ISS
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004813	Function	Alanine-tRNA ligase activity	IBA
GO:0004813	Function	Alanine-tRNA ligase activity	IDA	27622773, 28493438
GO:0004813	Function	Alanine-tRNA ligase activity	IEA
GO:0004813	Function	Alanine-tRNA ligase activity	TAS
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	38512451
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	38512451
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	7654687
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006400	Process	TRNA modification	IEA
GO:0006400	Process	TRNA modification	ISS
GO:0006412	Process	Translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006419	Process	Alanyl-tRNA aminoacylation	IBA
GO:0006419	Process	Alanyl-tRNA aminoacylation	IDA	27622773, 28493438
GO:0006419	Process	Alanyl-tRNA aminoacylation	IEA
GO:0006419	Process	Alanyl-tRNA aminoacylation	IMP	33909043
GO:0006419	Process	Alanyl-tRNA aminoacylation	TAS	7761427
GO:0008033	Process	TRNA processing	TAS	7654687
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016597	Function	Amino acid binding	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0021680	Process	Cerebellar Purkinje cell layer development	IEA
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	IDA	15149599
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	IMP	20160708
GO:0035329	Process	Hippo signaling	IDA	18579750, 19324877, 35429439
GO:0035329	Process	Hippo signaling	TAS	18158288
GO:0035332	Process	Positive regulation of hippo signaling	IDA	38512451
GO:0043039	Process	TRNA aminoacylation	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0106074	Process	Aminoacyl-tRNA metabolism involved in translational fidelity	IEA
GO:0140018	Process	Regulation of cytoplasmic translational fidelity	IEA
GO:0141207	Function	Peptide lactyltransferase (ATP-dependent) activity	IDA	38512451, 38653238, 39322678
GO:0141207	Function	Peptide lactyltransferase (ATP-dependent) activity	IEA
GO:1901797	Process	Negative regulation of signal transduction by p53 class mediator	IDA	38653238

Other IDs

• MIM: 601065
• HGNC: 20
• e!Ensembl: ENSG00000090861

Protein

• UniProt ID: P49588
• Protein name: Alanine--tRNA ligase, cytoplasmic (EC 6.1.1.7) (Alanyl-tRNA synthetase) (AlaRS) (Protein lactyltransferase AARS1) (EC 6.-.-.-) (Renal carcinoma antigen NY-REN-42)
• Protein function: Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala) (PubMed:27622773, PubMed:27911835, PubMed:28493438, PubMed:33909043)
• PDB: 4XEM, 4XEO, 5KNN, 5T5S, 5T76, 5V59
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01411	tRNA-synt_2c	9 → 597	tRNA synthetases class II (A)	Family
  PF07973	tRNA_SAD	694 → 753	Threonyl and Alanyl tRNA synthetase second additional domain	Domain
  PF02272	DHHA1	812 → 959	DHHA1 domain	Family

• Sequence:

  MDSTLTASEIRQRFIDFFKRNEHTYVHSSATIPLDDPTLLFANAGMNQFKPIFLNTIDPS
  HPMAKLSRAANTQKCIRAGGKHNDLDDVGKDVYHHTFFEMLGSWSFGDYFKELACKMALE
  LLTQEFGIPIERLYVTYFGGDEAAGLEADLECKQIWQNLGLDDTKILPGNMKDNFWEMGD
  TGPCGPCSEIHYDRIGGRDAAHLVNQDDPNVLEIWNLVFIQYNREADGILKPLPKKSIDT
  GMGLERLVSVLQNKMSNYDTDLFVPYFEAIQKGTGARPYTGKVGAEDADGIDMAYRVLAD
  HARTITVALADGGRPDNTGRGYVLRRILRRAVRYAHEKLNASRGFFATLVDVVVQSLGDA
  FPELKKDPDMVKDIINEEEVQFLKTLSRGRRILDRKIQSLGDSKTIPGDTAWLLYDTYGF
  PVDLTGLIAEEKGLVVDMDGFEEERKLAQLKSQGKGAGGEDLIMLDIYAIEELRARGLEV
  TDDSPKYNYHLDSSGSYVFENTVATVMALRREKMFVEEVSTGQECGVVLDKTCFYAEQGG
  QIYDEGYLVKVDDSSEDKTEFTVKNAQVRGGYVLHIGTIYGDLKVGDQVWLFIDEPRRRP
  IMSNHTATHILNFALRSVLGEADQKGSLVAPDRLRFDFTAKGAMSTQQIKKAEEIANEMI
  EAAKAVYTQDCPLAAAKAIQGLRAVFDETYPDPVRVVSIGVPVSELLDDPSGPAGSLTSV
  EFCGGTHLRNSSHAGAFVIVTEEAIAKGIRRIVAVTGAEAQKALRKAESLKKCLSVMEAK
  VKAQTAPNKDVQREIADLGEALATAVIPQWQKDELRETLKSLKKVMDDLDRASKADVQKR
  VLEKTKQFIDSNPNQPLVILEMESGASAKALNEALKLFKMHSPQTSAMLFTVDNEAGKIT
  CLCQVPQNAANRGLKASEWVQQVSGLMDGKGGGKDVSAQATGKNVGCLQEALQLATSFAQ
  LRLGDVKN

• Sequence length: 968

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
AARS1-related disorder	Likely pathogenic; Pathogenic	rs267606621	RCV004730838	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs267606621, rs1597446183	RCV000192253 RCV001027508	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease axonal type 2N	Pathogenic; Likely pathogenic	rs2152160733, rs1398433261, rs2152160758, rs786205157, rs145859060, rs267606621, rs1456469605, rs2507028484, rs1555542415	RCV001806263 RCV002247706 RCV002249209 RCV003311703 RCV005363055 RCV000008987 RCV003231055 RCV003336696 RCV000664214	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 2	Pathogenic; Likely pathogenic	rs1960409206, rs1211684571, rs2152160733, rs1173826571, rs766251338, rs1960065852, rs752548366, rs768830699, rs369135192, rs2152160643, rs977976041, rs2152166762, rs1398433261, rs761931081, rs2507013974, rs747434741, rs1960557616, rs2506989427, rs1567601355, rs1292379905, rs145859060, rs267606621, rs2507003569, rs1361458223, rs754266971, rs772774828, rs2506997974, rs2507012689, rs1960369184, rs781347519, rs1064795664, rs763937206, rs1555540896, rs866662905, rs1567604571, rs1597435337, rs1597435790, rs1597446183, rs1597448762, rs758183257, rs1960348987, rs756337758, rs1438690757, rs868097991	RCV001340895 RCV002241581 RCV002541169 RCV002236815 RCV002239803 RCV002236861 RCV002236873 RCV002236876 RCV002236910 RCV002236920 RCV002236943 RCV002236964 RCV002239845 RCV002236980 RCV002583497 RCV002631875 RCV002672203 RCV002791374 RCV002863664 RCV002895720 RCV003777670 RCV000168406 RCV003582189 RCV003582466 RCV003582875 RCV003582968 RCV003744229 RCV003743097 RCV003743253 RCV003845486 RCV000468199 RCV002230949 RCV003767415 RCV000653936 RCV000697803 RCV000700148 RCV000803092 RCV000792801 RCV000807351 RCV000807609 RCV002236061 RCV001068179 RCV001216699 RCV001206722 RCV002537705	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs766251338	RCV005930003	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 29	Pathogenic; Likely pathogenic	rs2152166979, rs2152156655, rs2152153611, rs2152154412, rs786205157, rs2506997702, rs1555539157, rs758183257	RCV001509582 RCV001509585 RCV001806265 RCV001804208 RCV000170341 RCV003479740 RCV000664218 RCV000995471	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary diffuse leukoencephalopathy with spheroids	Likely pathogenic; Pathogenic	rs2152166694	RCV001728170	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukoencephalopathy, hereditary diffuse, with spheroids 2	Likely pathogenic; Pathogenic	rs2152166694, rs2507016563	RCV001806251 RCV002281620	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Trichothiodystrophy 8, nonphotosensitive	Pathogenic; Likely pathogenic	rs2152149706, rs2507018118	RCV001804212 RCV003990408	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AARS-related disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AARS1-RELATED LEUKOENCEPHALOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2N	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, type I	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CLUBFOOT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal spinal muscular atrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely 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 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
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKODYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; 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)
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICHOTHIODYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICHOTHIODYSTROPHY SYNDROMES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Antisynthetase syndrome	Antithrombin deficiency	Pubtator	11686873	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal dominant Charcot-Marie-Tooth disease type 2N	Charcot-Marie-Tooth Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	25817015, 28493438	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24510587		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36991000	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30285085		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	20045102, 22009580, 22573628, 25817015, 28493438, 30124830		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth Disease, Axonal, Type 2n	Charcot-Marie-Tooth Disease	UNIPROT_DG	20045102, 22009580, 22206013		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Axonal, Type 2n	Charcot-Marie-Tooth Disease	CLINVAR_DG	20045102, 26257172		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Axonal, Type 2n	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	24357685, 26032230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Axonal, Type 2n	Charcot-Marie-Tooth Disease	BEFREE	30569560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Axonal, Type 2n	Charcot-Marie-Tooth Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Demyelinating Diseases	Demyelinating diseases	Pubtator	25817015, 28493438	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	11686873	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal Hereditary Motor Neuropathy Type II	Distal hereditary motor neuropathy	Pubtator	22573628, 26032230	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	Pubtator	26032230	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	28493438	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	25817015, 28493438		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29	Epileptic encephalopathy	UNIPROT_DG	25817015, 28493438		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	28493438		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29	Epileptic encephalopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29	Epileptic encephalopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Leukoencephalopathy with Spheroids	Hereditary Diffuse Leukoencephalopathy With Spheroids	BEFREE	31775912		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	CLINVAR_DG	20045102, 22009580, 30124830		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	22206013		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	18197801		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	24808023, 31280959	Associate	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	31775912		★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	11686873, 17393393	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24510587		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	28493438		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	28493438	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	26811336	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	37587064	Associate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	28967806		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	22886382	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	35971119, 37010095	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28493438		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	20045102	Associate	★☆☆☆☆ Found in Text Mining only
Neuronopathy Distal Hereditary Motor Type V	Distal hereditary motor neuropathy	Pubtator	26032230	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	26032230		★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	22573628		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	22009580		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	25817015	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	22009580		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polymyositis	Polymyositis	Pubtator	11686873	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Upper Extremity Deformities Congenital	Upper extremity deformity, congenital	Pubtator	26032230	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	31791873		★☆☆☆☆ Found in Text Mining only