AIMP2 (aminoacyl tRNA synthetase complex interacting multifunctional protein 2)

Gene

• Entrez ID: 7965
• Gene name: Aminoacyl tRNA synthetase complex interacting multifunctional protein 2
• Gene symbol: AIMP2
• Synonyms (NCBI Gene): HLD17, JTV-1, JTV1, P38
• Chromosome: 7
• Chromosome location: 7p22.1
• Summary: The protein encoded by this gene is part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one of the non-enzymatic factors and is required for assemb

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016291	hsa-miR-193b-3p	Microarray	20304954
MIRT025288	hsa-miR-34a-5p	Proteomics	21566225
MIRT044033	hsa-miR-365a-3p	CLASH	23622248
MIRT037437	hsa-miR-744-5p	CLASH	23622248
MIRT1928585	hsa-miR-193a-3p	CLIP-seq
MIRT1928586	hsa-miR-193b	CLIP-seq
MIRT1928587	hsa-miR-3117-5p	CLIP-seq
MIRT1928588	hsa-miR-3176	CLIP-seq
MIRT1928589	hsa-miR-345	CLIP-seq
MIRT1928590	hsa-miR-374c	CLIP-seq
MIRT1928591	hsa-miR-3922-3p	CLIP-seq
MIRT1928592	hsa-miR-4432	CLIP-seq
MIRT1928593	hsa-miR-4522	CLIP-seq
MIRT1928594	hsa-miR-4668-3p	CLIP-seq
MIRT1928595	hsa-miR-4714-5p	CLIP-seq
MIRT1928596	hsa-miR-514	CLIP-seq
MIRT1928597	hsa-miR-514b-3p	CLIP-seq
MIRT1928598	hsa-miR-548u	CLIP-seq
MIRT1928599	hsa-miR-549	CLIP-seq
MIRT1928600	hsa-miR-655	CLIP-seq
MIRT1928585	hsa-miR-193a-3p	CLIP-seq
MIRT1928586	hsa-miR-193b	CLIP-seq
MIRT2169355	hsa-miR-300	CLIP-seq
MIRT1928587	hsa-miR-3117-5p	CLIP-seq
MIRT2169356	hsa-miR-3127-3p	CLIP-seq
MIRT2169357	hsa-miR-3140-3p	CLIP-seq
MIRT1928588	hsa-miR-3176	CLIP-seq
MIRT1928589	hsa-miR-345	CLIP-seq
MIRT1928590	hsa-miR-374c	CLIP-seq
MIRT2169358	hsa-miR-381	CLIP-seq
MIRT1928591	hsa-miR-3922-3p	CLIP-seq
MIRT1928592	hsa-miR-4432	CLIP-seq
MIRT1928593	hsa-miR-4522	CLIP-seq
MIRT1928595	hsa-miR-4714-5p	CLIP-seq
MIRT1928596	hsa-miR-514	CLIP-seq
MIRT1928597	hsa-miR-514b-3p	CLIP-seq
MIRT1928598	hsa-miR-548u	CLIP-seq
MIRT1928599	hsa-miR-549	CLIP-seq
MIRT1928600	hsa-miR-655	CLIP-seq
MIRT2443392	hsa-miR-1276	CLIP-seq
MIRT1928585	hsa-miR-193a-3p	CLIP-seq
MIRT1928586	hsa-miR-193b	CLIP-seq
MIRT2443393	hsa-miR-29a	CLIP-seq
MIRT2443394	hsa-miR-29b	CLIP-seq
MIRT2443395	hsa-miR-29c	CLIP-seq
MIRT2169355	hsa-miR-300	CLIP-seq
MIRT1928587	hsa-miR-3117-5p	CLIP-seq
MIRT2169356	hsa-miR-3127-3p	CLIP-seq
MIRT1928588	hsa-miR-3176	CLIP-seq
MIRT1928589	hsa-miR-345	CLIP-seq
MIRT2443396	hsa-miR-3663-3p	CLIP-seq
MIRT1928590	hsa-miR-374c	CLIP-seq
MIRT2169358	hsa-miR-381	CLIP-seq
MIRT1928591	hsa-miR-3922-3p	CLIP-seq
MIRT1928592	hsa-miR-4432	CLIP-seq
MIRT1928593	hsa-miR-4522	CLIP-seq
MIRT1928594	hsa-miR-4668-3p	CLIP-seq
MIRT1928595	hsa-miR-4714-5p	CLIP-seq
MIRT1928598	hsa-miR-548u	CLIP-seq
MIRT1928599	hsa-miR-549	CLIP-seq
MIRT1928600	hsa-miR-655	CLIP-seq
MIRT2443397	hsa-miR-767-5p	CLIP-seq
MIRT1928585	hsa-miR-193a-3p	CLIP-seq
MIRT1928586	hsa-miR-193b	CLIP-seq
MIRT1928587	hsa-miR-3117-5p	CLIP-seq
MIRT1928588	hsa-miR-3176	CLIP-seq
MIRT1928589	hsa-miR-345	CLIP-seq
MIRT1928591	hsa-miR-3922-3p	CLIP-seq
MIRT1928592	hsa-miR-4432	CLIP-seq
MIRT1928593	hsa-miR-4522	CLIP-seq
MIRT1928595	hsa-miR-4714-5p	CLIP-seq
MIRT1928598	hsa-miR-548u	CLIP-seq
MIRT1928599	hsa-miR-549	CLIP-seq
MIRT2443392	hsa-miR-1276	CLIP-seq
MIRT1928585	hsa-miR-193a-3p	CLIP-seq
MIRT1928586	hsa-miR-193b	CLIP-seq
MIRT2443393	hsa-miR-29a	CLIP-seq
MIRT2443394	hsa-miR-29b	CLIP-seq
MIRT2443395	hsa-miR-29c	CLIP-seq
MIRT2169355	hsa-miR-300	CLIP-seq
MIRT1928587	hsa-miR-3117-5p	CLIP-seq
MIRT2169356	hsa-miR-3127-3p	CLIP-seq
MIRT1928588	hsa-miR-3176	CLIP-seq
MIRT1928589	hsa-miR-345	CLIP-seq
MIRT2443396	hsa-miR-3663-3p	CLIP-seq
MIRT1928590	hsa-miR-374c	CLIP-seq
MIRT2169358	hsa-miR-381	CLIP-seq
MIRT1928591	hsa-miR-3922-3p	CLIP-seq
MIRT1928592	hsa-miR-4432	CLIP-seq
MIRT1928593	hsa-miR-4522	CLIP-seq
MIRT1928594	hsa-miR-4668-3p	CLIP-seq
MIRT1928595	hsa-miR-4714-5p	CLIP-seq
MIRT1928598	hsa-miR-548u	CLIP-seq
MIRT1928599	hsa-miR-549	CLIP-seq
MIRT1928600	hsa-miR-655	CLIP-seq
MIRT2443397	hsa-miR-767-5p	CLIP-seq
MIRT2443392	hsa-miR-1276	CLIP-seq
MIRT1928585	hsa-miR-193a-3p	CLIP-seq
MIRT1928586	hsa-miR-193b	CLIP-seq
MIRT2443393	hsa-miR-29a	CLIP-seq
MIRT2443394	hsa-miR-29b	CLIP-seq
MIRT2443395	hsa-miR-29c	CLIP-seq
MIRT2169355	hsa-miR-300	CLIP-seq
MIRT1928587	hsa-miR-3117-5p	CLIP-seq
MIRT2169356	hsa-miR-3127-3p	CLIP-seq
MIRT1928588	hsa-miR-3176	CLIP-seq
MIRT1928589	hsa-miR-345	CLIP-seq
MIRT2443396	hsa-miR-3663-3p	CLIP-seq
MIRT1928590	hsa-miR-374c	CLIP-seq
MIRT2169358	hsa-miR-381	CLIP-seq
MIRT1928591	hsa-miR-3922-3p	CLIP-seq
MIRT1928592	hsa-miR-4432	CLIP-seq
MIRT1928593	hsa-miR-4522	CLIP-seq
MIRT1928594	hsa-miR-4668-3p	CLIP-seq
MIRT1928595	hsa-miR-4714-5p	CLIP-seq
MIRT1928598	hsa-miR-548u	CLIP-seq
MIRT1928599	hsa-miR-549	CLIP-seq
MIRT1928600	hsa-miR-655	CLIP-seq
MIRT2443397	hsa-miR-767-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 18695251, 19060904, 21044950, 21285945, 21516116, 21536907, 21900206, 21988832, 22190034, 23159739, 24212136, 24312579, 25416956, 26496610, 26871637, 27107012, 28514442, 29892012, 29997244, 31116475, 31515488, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	19289464
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006412	Process	Translation	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016567	Process	Protein ubiquitination	IEA
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IBA
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IDA	19131329
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	19131329
GO:0031398	Process	Positive regulation of protein ubiquitination	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	IEA
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0060510	Process	Type II pneumocyte differentiation	IEA
GO:0065003	Process	Protein-containing complex assembly	IEA

Other IDs

• MIM: 600859
• HGNC: 20609
• e!Ensembl: ENSG00000106305

Protein

• UniProt ID: Q13155
• Protein name: Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 (Multisynthase complex auxiliary component p38) (Protein JTV-1)
• Protein function: Required for assembly and stability of the aminoacyl-tRNA synthase complex (PubMed:19131329). Mediates ubiquitination and degradation of FUBP1, a transcriptional activator of MYC, leading to MYC down-regulation which is required for aveolar type
• PDB: 4DPG, 4YCU, 4YCW, 5A1N, 5A34, 5A5H, 5Y6L, 6ILD, 6IY6, 6JPV, 6K39, 8J9S, 9DPL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16780	AIMP2_LysRS_bd	1 → 49	AIMP2 lysyl-tRNA synthetase binding domain	Domain
  PF18569	Thioredoxin_16	117 → 208	Thioredoxin-like domain	Domain
  PF00043	GST_C	235 → 309	Glutathione S-transferase, C-terminal domain	Domain

• Sequence:

  MPMYQVKPYHGGGAPLRVELPTCMYRLPNVHGRSYGPAPGAGHVQEESNLSLQALESRQD
  DILKRLYELKAAVDGLSKMIQTPDADLDVTNIIQADEPTTLTTNALDLNSVLGKDYGALK
  DIVINANPASPPLSLLVLHRLLCEHFRVLSTVHTHSSVKSVPENLLKCFGEQNKKQPRQD
  YQLGFTLIWKNVPKTQMKFSIQTMCPIEGEGNIARFLFSLFGQKHNAVNATLIDSWVDIA
  IFQLKEGSSKEKAAVFRSMNSALGKSPWLAGNELTVADVVLWSVLQQIGGCSVTVPANVQ
  RWMRSCENLAPFNTALKLLK

• Sequence length: 320

Pathways

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
Leukodystrophy, hypomyelinating, 17	Pathogenic; Likely pathogenic	rs869312968, rs760123492, rs529613640, rs147658637, rs1786357576	RCV002247639 RCV003985133 RCV000656387 RCV001375046 RCV003120520	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental abnormality	Likely pathogenic	rs529613640	RCV000579202	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AIMP2-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acanthosis Nigricans	Acanthosis Nigricans	BEFREE	22585574		★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	29298652		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	29349553, 29484391, 29890468, 30718368, 31432106		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11585739, 27775076, 30879017		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21164364, 21858220, 22415779, 28900489, 30321617, 30827261, 30879017		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	15969750, 17078869		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	27262173		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	28114280		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	30298517		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	22302101, 22855790		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	17950728		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	28194256		★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	30940726		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	30233281		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	30033276		★☆☆☆☆ Found in Text Mining only
Amyloidosis cutis dyschromia	Amyloidosis Cutis Dyschromia	BEFREE	28493082, 29282578, 31429590		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28273913, 29499331, 29789529		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	28566491, 29366902, 31378753		★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	BEFREE	25270909		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31447579		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	31456484		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25426613		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	31398429		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	30905780		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	28437005		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17363696, 17957039, 21695272, 27592629, 27871059, 29257205, 29378168, 29566026, 29692651, 29793330, 30486366, 31171272, 31496351		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	16043718, 18026701, 22488549, 24107108, 28343998, 29206314		★☆☆☆☆ Found in Text Mining only
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	BEFREE	28948356		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	14991070		★☆☆☆☆ Found in Text Mining only
Asbestosis	Asbestosis	BEFREE	18314537		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	31014201		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	12641490, 26517722, 28402030, 29284473, 29448086, 29554934, 30186353, 30428724, 30511684, 30589094, 31445014, 31602218, 31808595		★☆☆☆☆ Found in Text Mining only
Asthma, Occupational	Asthma	BEFREE	30244166		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	12191496, 17446059		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17363696, 17957039, 21695272, 27592629, 27871059, 29257205, 29378168, 29566026, 29692651, 29793330, 30486366, 31171272, 31496351		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30297392		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	23139385, 23190644, 24741615		★☆☆☆☆ Found in Text Mining only
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	28493082, 29282578, 31429590		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	15753397, 21092277, 24738081, 28158919, 28272166, 28713946, 28849038, 29725459, 30106096, 30106128, 30335886, 30368882, 30426692, 30944654		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	15483673		★☆☆☆☆ Found in Text Mining only
Barber Say syndrome	Barber Say Syndrome	BEFREE	22585574		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	31464618		★☆☆☆☆ Found in Text Mining only
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	BEFREE	22585574		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	31789406		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	31789406		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	31078518		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19293182, 21902544, 22154358, 29463565		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	22425892, 29637005		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	29382550		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	18058803		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10766865, 12698197, 12972603, 15056732, 17214981, 17697330, 17875734, 19279008, 19920204, 20980434, 21099351, 22064321, 22073986, 22157753, 22579953, 22825349, 23900300, 24098377, 24464183, 24722482, 25066918, 25141981, 25189770, 25384584, 25727011, 25828376, 26716512, 27292262, 27876502, 28160858, 28276317, 28393288, 28560951, 28681938, 28718669, 28861172, 30352570, 30391782, 30447427, 30634506, 31513357, 31784750		★☆☆☆☆ Found in Text Mining only
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	BEFREE	22585574		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33128014, 35546148	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19293182, 21902544, 22154358, 29463565		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17609948, 19401523, 21164364, 21483803, 21885439, 22053010, 22285955, 22415779, 23333461, 23537880, 23815603, 26872057, 27026405, 27537399, 27922667, 28460458, 28638448, 30280780, 30827261, 31428903, 31489665, 31695416, 31792442		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	22302101		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	22532625, 27322208, 30049957, 31301414		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Alcoholic	Cardiomyopathy	BEFREE	29506687		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30292134, 31494123, 31689891		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Cavernous Malformations 3	Cerebral Cavernous Malformation	BEFREE	19246713		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30503674		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29382550		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	23940799, 30098789		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	23940799, 30098789		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	22302101, 22855790		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	12717393, 16469407, 23024367, 25502636		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	16639284		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	16549373, 18340449, 21328612, 26168133		★☆☆☆☆ Found in Text Mining only
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	Neurological, Cutaneous And Articular Syndrome	BEFREE	16279571		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	27226108, 30897126		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15483673, 16408101, 18288129, 26337206		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	28237966		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	17406066, 28214201, 28621371, 29074542, 29566026, 29719383, 30588579		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Classical phenylketonuria	Phenylketonuria	BEFREE	19946178		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29467361, 30609815		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	16838116, 25533544, 31205031		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15037631, 16849586, 21847367, 22076613, 22684547, 23422270, 23859040, 24880666, 29636389, 31364822		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	25890501		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10769637, 15975962, 20413844, 23900560, 28376477, 28731192, 28864417, 30211553, 30221676, 30588113, 30864690, 30949407, 31650548		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	28049487		★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	11448140, 11593045, 15867183, 19357768, 21271996, 28100897, 28104751, 30860934, 31505169		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23935100		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	20307495		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29122645		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	22585574, 30804419		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	12223450, 25533544		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	20460375		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	18031579, 18223264, 18523305, 20155832, 21181091, 25091567, 26873249, 27907835, 28337303, 28744712, 29061447, 29524442, 29682561, 29899528, 31210280, 31308631, 31760158, 31831024		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	24455679		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	21810259, 29867510, 31629950		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29535261		★☆☆☆☆ Found in Text Mining only
Dermatitis, Allergic Contact	Dermatitis	BEFREE	28493082, 29282578		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	25912722		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	21288594, 29621941		★☆☆☆☆ Found in Text Mining only
Deuteranomaly	Deuteranomaly	BEFREE	29088769		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	12957654, 17554073, 28534138, 31794124		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12957654, 17554073, 21478266, 28534138, 28807219, 29523003, 29615288, 31794124		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26911458		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17922475, 21892182, 25758573, 28888936, 29663930, 30284474, 30981822, 31072439, 31473185		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	30067872		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	27226108, 28588674, 28672912, 30049003, 30784180		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	22605924		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	30446590		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	29721975		★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal Ulcer	BEFREE	30119655		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	26033187		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	25912722		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	26153023		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	15550066, 24923883, 26394174, 28845752, 30773096		★☆☆☆☆ Found in Text Mining only
Enteritis	Enteritis	BEFREE	20885979		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	16792588		★☆☆☆☆ Found in Text Mining only
EPILEPSY, PYRIDOXINE-DEPENDENT	Epilepsy	BEFREE	19801633		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	28472735		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	26795593		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	28188686, 30868916		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	22532625, 30049957		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	29344159		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	29344159		★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	25502636		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	28493083		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	22234699		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	22234699		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP C	Fanconi Anemia	BEFREE	28539126		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP F	Fanconi Anemia	BEFREE	22952942		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30205811, 30914267		★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	BEFREE	16753021		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	29104242		★☆☆☆☆ Found in Text Mining only
Fibrosis of pancreas	Fibrosis Of Pancreas	BEFREE	29705706		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	23459070, 29322133, 30700848		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	28483380		★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	29568068		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	29568068		★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	29217619, 31751591		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	26312487		★☆☆☆☆ Found in Text Mining only
Gaucher Disease, Type 3 (disorder)	Gaucher Disease	BEFREE	26312487		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22528800, 22901381, 23261467, 24185179, 25088200, 26597532, 26794430, 28012022, 28386317, 29088769, 29316898, 29669288, 30359578, 30639532, 30717309, 31143512, 31295040, 31673920, 31719901		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22528800, 22901381, 23261467, 25088200, 26597532, 26794430, 28012022, 28386317, 29088769, 29316898, 29669288, 30359578, 30639532, 30717309, 31143512, 31295040, 31673920, 31719901		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	17406030, 22114076, 27609291, 28012022, 28569417, 29316898, 30674294, 30678338		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	28483380		★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	31548323		★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome, Familial	Guillain-Barre Syndrome	BEFREE	31548323		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	23837874		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	22110204, 29983416		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	11448140, 11593045, 15867183, 19357768, 21271996, 28104751, 31505169		★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	25583406		★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	31130074		★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic Disorders	BEFREE	16786433		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	26660341		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	18327563		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	12107734, 12957654, 24720336, 25758573, 26439801, 28731135, 28962618, 29421811, 31150695, 9916130		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	30651770		★☆☆☆☆ Found in Text Mining only
Hyperoxaluria	Hyperoxaluria	BEFREE	28185107		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	14561851, 27283322, 29566148		★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	28471037		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28910144, 30274147		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30074215		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	30897126		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	30302660		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27283322, 28472735, 29201176, 29467361, 29804103, 30609815, 30695686, 30845718		★☆☆☆☆ Found in Text Mining only
Incontinentia Pigmenti Achromians	Incontinentia Pigmenti Achromians	BEFREE	28601021		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	16838116		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	29535261, 31378305		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	20661932, 26911458		★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	26911458		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	28241849		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	28500782		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29663930, 31115561		★☆☆☆☆ Found in Text Mining only
Jaundice, Obstructive	Jaundice	BEFREE	31810142		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	18221537		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	27226108		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28881633, 29504713, 30511081, 30539653, 30976980, 30991714, 31639165		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	28352125		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15514005, 23707387, 23880928, 25684043, 26205966		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33128014	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20543580, 25426669		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	17950728		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
LEUKODYSTROPHY, HYPOMYELINATING, 17	Hypomyelinating Leukodystrophy	GENOMICS_ENGLAND_DG	26795593, 29215095		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEUKODYSTROPHY, HYPOMYELINATING, 17	Hypomyelinating Leukodystrophy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
liposarcoma	Liposarcoma	BEFREE	22243975		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10445852, 15849811, 17673262, 19497411, 21102517, 21732638, 23029478, 23319057, 24199952, 25230705, 25514221, 25703929, 25874498, 27662474, 28190473, 29159945, 29263422, 29710490, 29716964, 30551534, 30582951, 30850165, 31038073, 31067004, 31076403, 31213506, 31649538		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	10445852, 21732638		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	12584565, 27226640, 28007785, 30867890		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22562359, 35546148	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	30268079		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	30268079		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30268079		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	27365897, 30145800		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	30268079		★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	18094073		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	16247482, 22649101, 23153195, 29604597		★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	15077178, 26475474		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	15077178, 26475474		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	15077178, 26475474		★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	18362077		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30180869		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	22243975		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	23261452		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	22110204, 29983416		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12698197, 12972603, 15056732, 16897432, 17214981, 17697330, 17875734, 19279008, 19920204, 20980434, 21099351, 22064321, 22073986, 22157753, 22825349, 24098377, 24464183, 25066918, 25141981, 25189770, 25727011, 25828376, 26716512, 27292262, 27876502, 28160858, 28276317, 28393288, 28560951, 28681938, 28718669, 28861172, 28977919, 30352570, 30391782, 30447427, 30634506, 31513357, 31784750		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	23722928, 29344159		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	23338277, 31147803		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17609948, 19401523, 21164364, 21483803, 21885439, 22053010, 22285955, 22415779, 23333461, 23537880, 23815603, 26872057, 27026405, 27537399, 27922667, 28007785, 28460458, 28638448, 30280780, 30345633, 30827261, 31489665, 31695416, 31792442		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	22532625, 23537880, 27322208, 31301414		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	14598883, 24720336, 26439801, 26479921, 27278736, 29340057		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15031672, 16437387, 16618780, 16956884, 18413810, 23255296, 24080497, 24228091, 24619413, 26913608, 26919443, 28008585, 28213961, 29416632, 29894706, 30250582, 31509289		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	12370831, 30468479		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27890795, 29237470, 30011079		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	25045295		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19293182, 21902544, 22154358, 29463565		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17483345, 18217689, 19852565, 21470196, 21483803, 21885439, 22106296, 22154358, 22285955, 22302101, 22522455, 23335506, 23403951, 23537880, 24030148, 24115572, 24356814, 24366869, 24742967, 24880666, 25456131, 25701783, 27642049, 27680505, 27725227, 28098340, 28460458, 28536142, 28677816, 28731192, 29316898, 29331758, 29495003, 29575240, 29636389, 29704518, 29880481, 29930276, 30013667, 30456845, 30867890, 31266950, 31440466, 31623319, 31792442, 31828036		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	23940799, 30098789		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15037631, 16849586, 21847367, 22076613, 22684547, 23422270, 23859040, 24880666, 29636389, 31364822		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19920204, 21099351, 24251561		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	27893734		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	22302101, 22855790		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10871852, 15378016, 18068334, 18983537, 29067466, 29276966, 29291012, 30873870, 31401046		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	34986671	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29867510, 31629950		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	29215095		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muckle-Wells Syndrome	Muckle-Wells Syndrome	BEFREE	16279571		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	18593922, 19282458, 22425892, 23066034, 30583070, 31777580		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	21791428		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	29723037		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	31189728		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	16272363		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	16204077		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	16204077, 16940419, 22327869, 25480830, 28405919		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	29670085		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	17949234, 19324082, 19672773, 21890458, 28133573		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	28237966		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28559372, 28713990, 29232411, 29434760, 29630131, 29991775, 30116330, 30391964, 31646600		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	20307495		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	31370111		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	23406595, 30804419		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	20607722, 29854811, 31436393		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11279018, 12021785, 12972603, 14730602, 15492254, 1560527, 15611662, 15976377, 16230412, 17108114, 17254968, 17346218, 18245484, 19584293, 19740433, 21164364, 21483803, 21734453, 21923922, 22006115, 22117196, 22285955, 22425892, 22532625, 22610972, 22855790, 22965873, 23212914, 23403951, 23722928, 23815603, 24045413, 24115572, 24185179, 25141924, 25141981, 25694398, 25890501, 25955299, 26153023, 26475474, 26479921, 26804168, 26913608, 27197155, 27262173, 27292262, 27725227, 28178600, 28194179, 28245767, 28460458, 28536142, 28560056, 28638448, 28887603, 29067466, 29288534, 29313726, 29463565, 29620232, 29716964, 29854811, 30280780, 30328290, 30352570, 30691509, 30867799, 31266950, 31436393, 31535570, 31585897, 9877171		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	29187369		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	28383562	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30983972		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11032891, 11163539, 11598801, 15784962, 15950779, 16484283, 18534018, 19009558, 23507189, 25033461, 25086905, 25148040, 28831692, 30545920		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30327995, 30735722		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29215095		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	28202578		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30908654		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10874022, 16705311, 21306997, 22053010, 23456625, 24026034, 24292713, 26503828, 26799187, 28286419, 28460458, 29110442, 30564960, 30605882, 30771292, 30796972, 30867799, 30867890, 31590176, 31708104		★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	BEFREE	29575791		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24929539, 25034973, 29317435, 31139234, 31553232		★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	30731111		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	19828631, 28343998, 30439432, 30934850		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30934850		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	19330880, 22849560, 23262982, 26238193, 27799356, 28350136, 29434992, 29607921, 30267330, 30746754, 31268160, 31505816, 31719210		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	22532625, 27322208, 31301414		★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	25655200		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	14598883, 24720336, 26439801, 26479921, 27278736, 29340057		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	31432106		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25231838, 25592304, 30904818		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	12783850, 16049031, 20823226, 21209210, 28035410, 28078567, 28365714, 29540778, 29899409, 30071902, 30933849, 30995872, 31366968		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	28383562, 28972555, 31366968, 34148545	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	BEFREE	28928733		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	23657501		★☆☆☆☆ Found in Text Mining only
Peptic Esophagitis	Peptic Esophagitis	BEFREE	31586635		★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	26138525		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	28120492, 29207066, 31599069		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	31387001		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	31387001		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	15698454		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	19946178		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	15658002, 15977985		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	29168690		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	31231308		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	28344879		★☆☆☆☆ Found in Text Mining only
Posterior subcapsular cataract	Capsular cataract	BEFREE	26010611		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	28295194		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	26010611		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15031672, 16618780, 16956884, 18413810, 19242540, 23255296, 24080497, 24228091, 24619413, 26913608, 26919443, 28008585, 28213961, 29416632, 29894706, 30250582, 31509289		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	24863062, 28266627, 28602508, 31378305		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	29049722		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27226108, 30082522		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	23859041		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23935100		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	22076433, 26919280, 27365897, 29661023, 30127380, 30897126, 31739543		★☆☆☆☆ Found in Text Mining only
Renpenning syndrome 1	Renpenning Syndrome	BEFREE	28948356		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome	Respiratory Distress Syndrome	BEFREE	12819782		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	12819782, 29039541		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	12819782		★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	BEFREE	11593045		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29408550		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	31648555		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	14730602, 27642049, 29109039, 29237430, 29790698		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	12186945, 29790086		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12641490, 14730602, 15170913, 15557189, 16778989, 16947383, 17530707, 19765281, 19828631, 22488549, 24574214, 25367151, 25932604, 26420479, 27226108, 27597652, 28339004, 28515692, 29511118, 29943389, 31037574, 31514188, 31736366		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	28657795		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	22243975		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28035416		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	11918720, 16098034		★☆☆☆☆ Found in Text Mining only
SCLEROSING CHOLANGITIS, NEONATAL	Sclerosing Cholangitis	BEFREE	30954890		★☆☆☆☆ Found in Text Mining only
Seckel syndrome	Seckel Syndrome	BEFREE	23401567		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	15658002, 15977985, 29201176		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28147298, 29039541, 29227823, 31775794		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	17470913		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	31585897		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31309463		★☆☆☆☆ Found in Text Mining only
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	BEFREE	31078518		★☆☆☆☆ Found in Text Mining only
Solitary fibrous tumor	Solitary fibrous tumor	BEFREE	28887603		★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	BEFREE	29215095		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	23656793		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	20121928, 31315217		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	22167332, 22522455		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31517839	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	28469797		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	20717005, 22110204, 24568968, 27531877, 28915597, 29575240, 29747487, 30622052		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the hypopharynx	Hypopharyngeal Carcinoma	BEFREE	29410394		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	31331032		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30914267		★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum	Stevens-Johnson Syndrome	BEFREE	28949055		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27890795, 29237470		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29160895, 30242669, 30980845		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	19737974		★☆☆☆☆ Found in Text Mining only
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)	Arthrocutaneouveal granulomatosis	BEFREE	25429073		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	11918720, 16098034, 28189565, 30404019		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	28194179		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	12581337, 15658002, 15977985		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	31547619		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	25045295		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	25045295		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	28194179		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	28710025		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29777109, 29880481, 30462562		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	30928642		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	26090671, 28667430, 29518435		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	23401649		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	30158835		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	19207217		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	19207217		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	30173943		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	16803993, 20536832		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	GENOMICS_ENGLAND_DG	26795593		★☆☆☆☆ Found in Text Mining only
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	Xeroderma Pigmentosum	BEFREE	30555679		★☆☆☆☆ Found in Text Mining only