NDUFA2 (NADH:ubiquinone oxidoreductase subunit A2)

Gene

• Entrez ID: 4695
• Gene name: NADH:ubiquinone oxidoreductase subunit A2
• Gene symbol: NDUFA2
• Synonyms (NCBI Gene): B8, CD14, CIB8, MC1DN13
• Chromosome: 5
• Chromosome location: 5q31.3
• Summary: The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048675	hsa-miR-99a-5p	CLASH	23622248
MIRT048578	hsa-miR-100-5p	CLASH	23622248
MIRT045264	hsa-miR-186-5p	CLASH	23622248
MIRT461746	hsa-miR-3936	PAR-CLIP	23592263
MIRT461745	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT461744	hsa-miR-6755-5p	PAR-CLIP	23592263
MIRT461743	hsa-miR-140-5p	PAR-CLIP	23592263
MIRT461742	hsa-miR-5693	PAR-CLIP	23592263
MIRT461741	hsa-miR-194-3p	PAR-CLIP	23592263
MIRT461740	hsa-miR-5004-5p	PAR-CLIP	23592263
MIRT461739	hsa-miR-4751	PAR-CLIP	23592263
MIRT461738	hsa-miR-197-5p	PAR-CLIP	23592263
MIRT461737	hsa-miR-3132	PAR-CLIP	23592263
MIRT461736	hsa-miR-4451	PAR-CLIP	23592263
MIRT461735	hsa-miR-656-5p	PAR-CLIP	23592263
MIRT461734	hsa-miR-1273g-5p	PAR-CLIP	23592263
MIRT461733	hsa-miR-1224-5p	PAR-CLIP	23592263
MIRT461732	hsa-miR-6836-3p	PAR-CLIP	23592263
MIRT461731	hsa-miR-3152-5p	PAR-CLIP	23592263
MIRT461746	hsa-miR-3936	PAR-CLIP	23592263
MIRT461745	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT461744	hsa-miR-6755-5p	PAR-CLIP	23592263
MIRT461743	hsa-miR-140-5p	PAR-CLIP	23592263
MIRT461742	hsa-miR-5693	PAR-CLIP	23592263
MIRT461741	hsa-miR-194-3p	PAR-CLIP	23592263
MIRT461740	hsa-miR-5004-5p	PAR-CLIP	23592263
MIRT461739	hsa-miR-4751	PAR-CLIP	23592263
MIRT461738	hsa-miR-197-5p	PAR-CLIP	23592263
MIRT461737	hsa-miR-3132	PAR-CLIP	23592263
MIRT461736	hsa-miR-4451	PAR-CLIP	23592263
MIRT461735	hsa-miR-656-5p	PAR-CLIP	23592263
MIRT461734	hsa-miR-1273g-5p	PAR-CLIP	23592263
MIRT461733	hsa-miR-1224-5p	PAR-CLIP	23592263
MIRT461732	hsa-miR-6836-3p	PAR-CLIP	23592263
MIRT461731	hsa-miR-3152-5p	PAR-CLIP	23592263
MIRT1178661	hsa-miR-23a	CLIP-seq
MIRT1178662	hsa-miR-23b	CLIP-seq
MIRT1178663	hsa-miR-23c	CLIP-seq
MIRT1178664	hsa-miR-3120-3p	CLIP-seq
MIRT1178665	hsa-miR-3155	CLIP-seq
MIRT1178666	hsa-miR-3155b	CLIP-seq
MIRT1178667	hsa-miR-338-3p	CLIP-seq
MIRT1178668	hsa-miR-3915	CLIP-seq
MIRT1178669	hsa-miR-3928	CLIP-seq
MIRT1178670	hsa-miR-4251	CLIP-seq
MIRT1178671	hsa-miR-4324	CLIP-seq
MIRT1178672	hsa-miR-4528	CLIP-seq
MIRT1178673	hsa-miR-4530	CLIP-seq
MIRT1178674	hsa-miR-484	CLIP-seq
MIRT1178675	hsa-miR-5096	CLIP-seq
MIRT1178676	hsa-miR-539	CLIP-seq
MIRT1178677	hsa-miR-548l	CLIP-seq
MIRT1178678	hsa-miR-922	CLIP-seq
MIRT1178661	hsa-miR-23a	CLIP-seq
MIRT1178662	hsa-miR-23b	CLIP-seq
MIRT1178663	hsa-miR-23c	CLIP-seq
MIRT1178667	hsa-miR-338-3p	CLIP-seq
MIRT1178672	hsa-miR-4528	CLIP-seq
MIRT1178673	hsa-miR-4530	CLIP-seq
MIRT1178675	hsa-miR-5096	CLIP-seq
MIRT1178678	hsa-miR-922	CLIP-seq
MIRT2051720	hsa-miR-1273g	CLIP-seq
MIRT2051721	hsa-miR-4774-3p	CLIP-seq
MIRT2051720	hsa-miR-1273g	CLIP-seq
MIRT1178661	hsa-miR-23a	CLIP-seq
MIRT1178662	hsa-miR-23b	CLIP-seq
MIRT1178663	hsa-miR-23c	CLIP-seq
MIRT1178664	hsa-miR-3120-3p	CLIP-seq
MIRT1178665	hsa-miR-3155	CLIP-seq
MIRT1178666	hsa-miR-3155b	CLIP-seq
MIRT2280758	hsa-miR-326	CLIP-seq
MIRT2280759	hsa-miR-330-5p	CLIP-seq
MIRT1178667	hsa-miR-338-3p	CLIP-seq
MIRT2280760	hsa-miR-3612	CLIP-seq
MIRT1178668	hsa-miR-3915	CLIP-seq
MIRT1178669	hsa-miR-3928	CLIP-seq
MIRT2280761	hsa-miR-4283	CLIP-seq
MIRT2280762	hsa-miR-4443	CLIP-seq
MIRT2280763	hsa-miR-4489	CLIP-seq
MIRT1178672	hsa-miR-4528	CLIP-seq
MIRT1178673	hsa-miR-4530	CLIP-seq
MIRT2280764	hsa-miR-4667-5p	CLIP-seq
MIRT2280765	hsa-miR-4675	CLIP-seq
MIRT2280766	hsa-miR-4687-3p	CLIP-seq
MIRT2280767	hsa-miR-4700-5p	CLIP-seq
MIRT2280768	hsa-miR-4741	CLIP-seq
MIRT2051721	hsa-miR-4774-3p	CLIP-seq
MIRT1178674	hsa-miR-484	CLIP-seq
MIRT2280769	hsa-miR-500a	CLIP-seq
MIRT1178675	hsa-miR-5096	CLIP-seq
MIRT1178677	hsa-miR-548l	CLIP-seq
MIRT2280770	hsa-miR-637	CLIP-seq
MIRT2280771	hsa-miR-650	CLIP-seq
MIRT2280772	hsa-miR-760	CLIP-seq
MIRT1178678	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001835	Process	Blastocyst hatching	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	28844695
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9878551
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	9878551
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	17209039
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0045271	Component	Respiratory chain complex I	IBA
GO:0045271	Component	Respiratory chain complex I	IDA	12611891, 17209039, 27626371
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	NAS	9878551
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 602137
• HGNC: 7685
• e!Ensembl: ENSG00000131495

Protein

• UniProt ID: O43678
• Protein name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 (Complex I-B8) (CI-B8) (NADH-ubiquinone oxidoreductase B8 subunit)
• Protein function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediat
• PDB: 1S3A, 5XTB, 5XTD, 5XTH, 5XTI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05047	L51_S25_CI-B8	33 → 84	Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain	Domain

• Sequence:

  MAAAAASRGVGAKLGLREIRIHLCQRSPGSQGVRDFIEKRYVELKKANPDLPILIRECSD
  VQPKLWARYAFGQETNVPLNNFSADQVTRALENVLSGKA

• Sequence length: 99

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Thermogenesis
Retrograde endocannabinoid signaling
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

Reactome:

Respiratory electron transport
Complex I biogenesis

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
Cystic Leukoencephalopathy	Pathogenic	rs757982865	RCV000516026	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 13	Pathogenic	rs757982865, rs1168752295, rs1757460270	RCV001256006 RCV000007945 RCV001256008	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh syndrome	Conflicting classifications of pathogenicity	ClinVar ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEIGH SYNDROME WITH LEUKODYSTROPHY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex I deficiency, nuclear type 1	Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NDUFA2-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
5q-syndrome	5q-syndrome	BEFREE	15725470		★☆☆☆☆ Found in Text Mining only
AA amyloidosis	AA amyloidosis	BEFREE	17187267		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	15686783		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	LHGDN	17925604		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	1375695		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	21476947		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	30336978		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	BEFREE	1825181		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	11860442, 9052378		★☆☆☆☆ Found in Text Mining only
Acute otitis media	Otitis media	BEFREE	16893989		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	15599151, 15714129, 16273622, 18580445, 19997857		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	LHGDN	17982638		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	28765037		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	11343243, 14633604, 16046876, 16148556, 16273620, 23009036, 23587862, 28849499		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21476947		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	20826579		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	17309585, 19046305, 23517107, 26079505		★☆☆☆☆ Found in Text Mining only
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	22174685	Associate	★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	16109674, 20109306, 24170183, 29687183		★☆☆☆☆ Found in Text Mining only
Allergic sensitization	Allergic Sensitization	BEFREE	16614348, 20109750, 30288821		★☆☆☆☆ Found in Text Mining only
alpha Thalassemia	Alpha thalassemia	Pubtator	14508795, 37796611	Associate	★☆☆☆☆ Found in Text Mining only
Alveolitis Extrinsic Allergic	Extrinsic allergic alveolitis	Pubtator	32508528	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	23891730, 33081847, 35307406	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	14600428, 28765037, 30781810		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	17187267		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22863620		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31355970, 31474499		★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	22785372	Associate	★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	BEFREE	10839736, 15883205		★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	LHGDN	17600225		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	15647432, 18634146, 29863307		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	22955940, 23348634, 26925780	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracoabdominal	Thoracoabdominal aortic aneurysm	Pubtator	10709066	Inhibit	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	26925780		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	28097522		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	20826579		★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	15273551		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	32077934	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15116260, 15257175, 15367917, 15854776, 16890863, 17087609, 17098305, 17436151, 18067591, 21803849, 22094710, 23146639, 24116867, 25046588, 25622527, 26676845, 28855511, 30254012, 31296363, 31707079, 31737059, 9863542		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	12492251, 16698680		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	29530480	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	22281427	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	29530480, 36248892, 37904379	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	20102624, 35095831	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	32560314, 35087513, 36912319	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Reactive	Reactive arthritis	Pubtator	10524675	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	11229457, 15248214, 16207318, 17323353, 19325128, 21953607, 22809173, 22838733, 23280063, 25126574, 25329467, 25333715, 25639560, 26759164, 26915672, 27434862, 27822475, 28118944, 29191820, 30802366, 31169830, 32674360, 32958023, 33488616, 34079550, 34458379, 34858391, 35020867, 35628558, 36912319, 38086271, 39290322, 8870692	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	12384915, 22006178, 28183329, 34394126, 35095831, 9858207	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	29863307, 30658492		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	22294633		★☆☆☆☆ Found in Text Mining only
Asphyxia	Asphyxia	Pubtator	12699414	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	11282774, 11574751, 11753119, 12011764, 12897754, 14510720, 14641542, 15356557, 15378299, 15602630, 15741437, 15879416, 15940135, 16266379, 16387800, 16505608, 16815140, 17003960, 17042137, 17075287, 17196641, 17823973, 17877764, 17919709, 17989521, 18312481, 18425216, 18774388, 18931892, 19096003, 19361972, 19372244, 19968655, 20051845, 20394509, 20536280, 20608916, 21079949, 21325943, 21389010, 21745379, 21842127, 22015088, 22697010, 23101184, 24347797, 24358127, 24376096, 24524443, 24889096, 24902762, 25036518, 26463530, 26475135, 26517722, 26658828, 27434019, 27684840, 28262750, 29045689, 29515128, 30529429, 30691461, 31403268, 31530336		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	12897754, 15378299, 16266379, 16387800, 18312481, 18714537		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	CTD_human_DG	17607003		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	19096003, 19361972, 23101184, 24347797, 24524443, 25036518, 26658828, 27624002, 27977294, 28262750, 28933920, 29515128, 29937881, 30691461, 31403268, 40234829, 40551049	Associate	★☆☆☆☆ Found in Text Mining only
Asthma, Occupational	Asthma	BEFREE	27035106		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	14587643	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	12103253, 16890863, 17087609, 18067042, 18321997, 21231894, 21803849, 23146639, 24241246, 25046588, 25622527, 26251402, 28855511, 31169830, 35937796, 37339167	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	15116260, 15257175, 15367917, 15854776, 16890863, 17087609, 17098305, 17436151, 18067591, 21803849, 22094710, 23146639, 24116867, 25046588, 25622527, 26676845, 28855511, 30254012, 31296363, 31707079, 31737059, 9863542		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	17087609, 17098305, 17436151		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	26826137, 30153670		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	30153670	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	15611337, 22703766, 30700980		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	22006178, 37799110	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	21063024, 24636145, 9435337		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	25410656		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	25410656, 36226612	Associate	★☆☆☆☆ Found in Text Mining only
Berylliosis	Berylliosis	Pubtator	25689051	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	16061600, 21172039, 30439647		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	LHGDN	16061600		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	40607400	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	36130508	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	30014955		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	31767892	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	18825409, 25825750		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	10500825		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	19751271	Stimulate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	26241501	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	29438197		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	33712020	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	17900349	Associate	★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	30417373	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly Type D	Brachydactyly	Pubtator	28504607	Associate	★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	25232899		★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	24610929	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	32823285	Associate	★☆☆☆☆ Found in Text Mining only
Brain Thrombus	Cerebral Thrombus	BEFREE	31270150		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23090904, 26627060, 27858122, 29230664, 30368555		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23090904, 26942414, 30254632, 38170155	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28639912	Stimulate	★☆☆☆☆ Found in Text Mining only
Bronchial Hyperreactivity	Bronchial Hyperreactivity	BEFREE	11282774, 14510720, 17003960, 17196641		★☆☆☆☆ Found in Text Mining only
Bronchial Hyperreactivity	Bronchial hyperreactivity	Pubtator	22015088	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	Pubtator	40234829	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	BEFREE	15143473, 17471431, 24376096, 25263840, 25572736		★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	LHGDN	17471431		★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	Pubtator	25263840, 25572736	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	37090732	Associate	★☆☆☆☆ Found in Text Mining only
Cachexia	Cachexia	Pubtator	27879288	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	29189263		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	24086515	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	10091598, 20124221, 32587357, 35265561, 36212175, 37403022	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	18825409, 25825750		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	29077168		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28178645, 28463881		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	27986748	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	25827621	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24768357, 32469992, 34528699, 35308143, 39971624	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	9845545	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36969247	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28589429		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	24241246	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	27287545, 30346948, 33146244	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	11062291, 16472051, 17436151, 19361972, 19433913, 23739627, 25622527, 26223654, 26347573, 27495090, 30922395, 30944694, 31055050		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	19361972, 25622527, 27495090, 28596372, 31055050, 32157955, 34305452	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	27992360	Stimulate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	BEFREE	15640605		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	24401216, 37478026	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Thrombosis	Carotid artery thrombosis	Pubtator	25046588	Stimulate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	12624278		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	17098305, 31467936		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	37478026	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	10469047		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	18728522, 22648004, 26546613, 28143429		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	LHGDN	18728522		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	34449925, 34576145	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	25232899		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	33891558	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	12140663		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	11935032, 12140663, 18158110, 18794053, 28390251, 28963650		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	12140663		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	11062291, 19433913		★☆☆☆☆ Found in Text Mining only
Chagas Cardiomyopathy	Chagas cardiomyopathy	Pubtator	33146244	Associate	★☆☆☆☆ Found in Text Mining only
Chagas Disease	Chagas disease	Pubtator	30346948, 33146244	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	21476947		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	19148143, 20398919, 20536280, 23194293, 24376096, 26475135		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	20636398, 29189263		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	20636398, 28943450, 30067440	Associate	★☆☆☆☆ Found in Text Mining only
Choledochal Cyst	Choledochal Cyst	BEFREE	21172039		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	16061600		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	LHGDN	16061600		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	19672202	Associate	★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	BEFREE	20027300		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	12566518, 33488616	Associate	★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	16337191		★☆☆☆☆ Found in Text Mining only
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	Neurological, Cutaneous And Articular Syndrome	BEFREE	26245468		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	25134759, 30602156		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	25134759, 26925780, 28992140		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20660791, 21615384, 26135617, 29872489		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	20438701, 21439805, 31063895		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	15842262, 16246938, 17309585, 21118416, 28829191, 28910171		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	LHGDN	15842262, 18315435		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	23046822	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	26581717	Inhibit	★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	29116124	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	18666712, 20653431, 30304545		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	16297172	Associate	★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	BEFREE	31658463		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	36601110, 40159555	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	29196629	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28411859, 30445455, 30782858		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	16085746, 22219617, 31206576, 7538056	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	18040078	Stimulate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	33625532	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16706818, 17549384, 21633598		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11725828, 21633598, 22304731, 23180014, 26509874, 32651213, 32802869, 33931472, 34727230, 39346920	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	16706818		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	10605046		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	16907909, 22861366, 34146579, 9508785	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	21762747, 25344470		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	16061600, 21172039, 30439647		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	20636398		★☆☆☆☆ Found in Text Mining only
Congenital glucose-galactose malabsorption	Congenital glucose-galactose malabsorption	BEFREE	7647032		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	16337191, 28207887		★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	BEFREE	21749458		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21703422		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	28344199	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10195920, 10980225, 11199329, 11796541, 12075251, 12103253, 12140663, 14648231, 15116260, 15367917, 15686783, 15777548, 17056323, 17087609, 17098305, 17436151, 18067591, 19795323, 19829130, 22056216, 23146639, 23277403, 24675724, 25134759, 29074586, 29299748, 31737059		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10195920, 11062291, 12075251, 12103253, 12140663, 14575520, 14648231, 15175649, 15367917, 15777548, 17056323, 17087609, 17098305, 17436151, 18067591, 18157711, 19795323, 19829130, 20565948, 22056216, 23146639, 23275384, 23277403, 24675724, 25134759, 29074586, 29299748, 29423944, 29609686, 31737059		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	15269840		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	22785372, 24118494, 29074586, 30857550, 31511449, 33353159, 33739370, 38357816, 39614436, 40508061	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	25668619	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	33188677	Inhibit	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	16297172, 17087609, 32933609, 38538346	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	30372812	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10195920, 12075251, 12103253, 12140663, 14648231, 15367917, 15777548, 17056323, 17087609, 17098305, 17436151, 18067591, 19795323, 19829130, 22056216, 23146639, 23277403, 24675724, 25134759, 29074586, 29299748, 31737059		★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	27277665	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Thrombosis	Coronary Thrombosis	BEFREE	29444200		★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	22461003	Stimulate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	11843056, 12940436, 15190267, 15655821, 15764151, 15946916, 16165702, 16174099, 18174680, 18493210, 18497880, 19275920, 19664152, 20865702, 21383239, 22219617, 22605977, 23658649, 24503130, 24697307, 24776844, 24991784, 30343293, 31206576		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	15655821, 18497880		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	15655821, 18497880, 22219617, 22605977, 23566200, 24697307, 28269885, 31541232, 32076066, 32180132, 33313682	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	18040078, 7538056	Stimulate	★☆☆☆☆ Found in Text Mining only
Cushing's symphalangism	Proximal symphalangism	Pubtator	22785372	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	15975149, 19466271, 23994582		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	15975149, 19000946, 19466271, 28122919	Associate	★☆☆☆☆ Found in Text Mining only
Cystic leukoencephalopathy without megalencephaly	Cystic Leukoencephalopathy Without Megalencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	20112365, 20650323, 26838552, 28677145, 30485272, 31196179		★☆☆☆☆ Found in Text Mining only
Delirium, Dementia, Amnestic, Cognitive Disorders	Delirium, Dementia, Amnestic, Cognitive Disorders	BEFREE	28225719		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	31818907		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	35902387	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	24848505	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	39196303	Stimulate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic 1	Atopic dermatitis	Pubtator	21905503, 22697010	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	12580907, 14767447, 21749458, 26534745, 27805275, 30084516		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	LHGDN	16101942		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	29858547		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	33766508, 35762881, 36564154	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28424820, 30521849		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	38029485	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	27182056	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28424820, 30521849		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	21980303, 24130366, 31299986	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19959758, 27182056, 32066653, 33678630	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25942429, 26581717	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	17130490, 18728522, 19148143, 21980303, 28255273, 28635624, 9725265		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	LHGDN	18728522		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	12679473		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	16472051, 19959758, 21285942, 25134759, 30356719, 30521849		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34735495, 39345891	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	29434227		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	37773794	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	39290701	Inhibit	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	37904379	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	24636145		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	23954259		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	28143429		★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal ulcer	Pubtator	14655059	Inhibit	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgerminoma	Dysgerminoma	BEFREE	15331405		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	35274685	Associate	★☆☆☆☆ Found in Text Mining only
Ear Diseases	Ear Diseases	BEFREE	16893989		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	16749413		★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	Pubtator	34867991	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	11994712, 12580907, 14767447, 15867866, 16614348, 19759553, 19761511, 26534745, 30084516		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	CTD_human_DG	19759553		★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	33936110	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	14505752, 31122533	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	29226157	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	31299634		★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia verruciformis	Pubtator	35202881	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	39179617	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19360286	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	36891527	Associate	★☆☆☆☆ Found in Text Mining only
Familial hypercholesterolemia - homozygous	Hypercholesterolemia	BEFREE	9863542		★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	22210239	Stimulate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28632732		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	22768838		★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	BEFREE	30417373, 30429363		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	20353583		★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	BEFREE	15273551		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	19337058		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	19337058, 36973348, 37904379	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	29721368		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	1334945	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	26142329		★☆☆☆☆ Found in Text Mining only
Genital ulcers	Genital ulcers	BEFREE	18008231		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	40153329	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	18767926, 23395086	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	23395086		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingival diseases	Pubtator	31448244	Inhibit	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	27861595	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20179016		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	21636707, 21705839, 26180083, 26578623	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20179016		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34953280, 36768201	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	25026899	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	12566518, 33357427	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	39516745	Stimulate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	CTD_human_DG	26462562		★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	26462562, 33741037	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	BEFREE	31312662		★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	31312662	Inhibit	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	26827181, 32453711	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	24184334		★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	14688376	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	18778364, 30700980		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	18778364	Associate	★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	15081257		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	30700980		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	36982416	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	20364047, 31379862, 32967511	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	20364047, 26705751, 32967511, 37511100	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28207887		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	16456130		★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	10934342, 30464689, 7691746, 7858265, 9488406	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	28718265	Inhibit	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	25931358, 31308443	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	BEFREE	27655254		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	36734259	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	35265561, 36445121	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	16273620, 19701968	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	16273620, 19701968	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	15482341		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	24638167, 27597420		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	21242682, 9473787		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	31714922	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	21242682		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	21700881, 28514281		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	21698093	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	23101184, 39339845	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	26437765	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Resistant to Conventional Therapy	Resistant hypertension	Pubtator	39971624	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	22072187, 28424820, 29069436		★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	23918401	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ 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	30229666		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	15879152, 21309737, 38086271	Associate	★☆☆☆☆ Found in Text Mining only
IgA Deficiency	Selective immunoglobulin a deficiency	Pubtator	19834793, 9508785	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	12566518, 25770168, 30022351, 9327339		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	18851688		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	11517430, 23936155, 28243867		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	15655821, 15764151, 15946916, 18174680, 19230040, 19664152, 22219617, 23049772, 26475133, 27001939, 28411859, 28961693		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	15655821, 18040078, 22219617, 26475133, 32598439, 7538056, 8655691, 9353156	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	17453718	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	18174680		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	32066653	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	36907174	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	31785262		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	24086515		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	18174680, 28044051		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	16386288, 28963650		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	19605672		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	29959006		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	18067042	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	22072187, 29777767		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	25931358, 34899727	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	25134759, 30602156		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	29077168	Associate	★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINGEN_DG	17209039, 18513682, 18826940, 21556144, 22822087, 27159321, 27626371, 28857146, 9878551		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	18513682, 28857146		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	GENOMICS_ENGLAND_DG	18513682, 27604308		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	18513682	Associate	★☆☆☆☆ Found in Text Mining only
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	CLINGEN_DG	17209039, 18513682, 18826940, 21556144, 22822087, 27159321, 27626371, 28857146, 9878551		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex II Deficiency	Leigh Syndrome	CLINGEN_DG	17209039, 18513682, 18826940, 21556144, 22822087, 27159321, 27626371, 28857146, 9878551		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINGEN_DG	17209039, 18513682, 18826940, 21556144, 22822087, 27159321, 27626371, 28857146, 9878551		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINGEN_DG	17209039, 18513682, 18826940, 21556144, 22822087, 27159321, 27626371, 28857146, 9878551		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Leigh Syndrome	CLINGEN_DG	17209039, 18513682, 18826940, 21556144, 22822087, 27159321, 27626371, 28857146, 9878551		★☆☆☆☆ Found in Text Mining only
Leigh syndrome with leukodystrophy	Leigh Syndrome With Leukodystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leprosy	Leprosy	BEFREE	14501431		★☆☆☆☆ Found in Text Mining only
Leprosy Lepromatous	Leprosy	Pubtator	25412496	Stimulate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10466442, 16338495, 1638477, 30596396, 30827477, 9815560		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	14716122, 23449638, 2787681	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11823047, 16338495, 17488160, 18061959, 19131546, 22328535, 35924580, 7579404, 8049437, 8098967	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	25852055	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10360378, 11860442, 1382546, 15746035, 16338495, 19036083, 19131546, 1921460, 2043481, 27102414, 28380413, 28625325, 30171088, 30336978, 7539657		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	29982327		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	28857146		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy, Cystic, Without Megalencephaly	Leukoencephalopathy, Cystic, Without Megalencephaly	ORPHANET_DG	28857146		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	40532443	Associate	★☆☆☆☆ Found in Text Mining only
Lichenoid Eruptions	Lichenoid Eruptions	BEFREE	30883858		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	23796347		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	34465597	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10091598, 15585621, 18485901, 28977922		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	14672339, 16061600, 16273622, 18666712, 20653431, 21059892, 27655254, 30304545, 31519041		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	16273622, 20548789	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	20353583		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Alcoholic	Liver cirrhosis	Pubtator	16273622	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	30802366, 38111586	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	16273622, 23009036		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	20548789	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases Alcoholic	Liver disease	Pubtator	16273620	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	22837127	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	22837127		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	10091598		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	19466271		★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	20404807, 38086271	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	26749424		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36969247	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	17641957		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	10733475	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	19594946, 19759858, 24650765, 24741600, 26251402, 27172182, 27424138, 33584646, 34003488, 34079550, 34108969, 35197962, 35762881, 39212542	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	12960479, 17276734, 20954190, 22147767, 23950730, 24474706, 24741600, 26079624		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	39224582	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28639912	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	BEFREE	26135617		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	11385615	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	18608348, 24636145, 9473787		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	26230952	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	24727328, 31611550	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Extranodal NK-T-Cell	Lymphoma	BEFREE	26497849		★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	21063024		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	21063024		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	21063024		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	11585383		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	29898456		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23090904, 26627060, 27858122, 29230664, 30368555		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	24870592		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	29077168		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31571899		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28178645, 28463881		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	23796347		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28589429		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	22311263, 23653148		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19830784		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19326213, 19337058, 19847953, 22955854, 23565226, 23824692, 24627605, 24978812, 29742730		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	18825409, 25825750		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23679576, 24526468, 24870592, 24978812, 25825750, 30171605, 30235890, 31412297, 31826310		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	27861595	Associate	★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	28673686		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	26151158		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	29188362		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11747338, 24778320, 28400539, 29895674, 33589521, 33737341, 33796413, 39684692, 7525578	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27325645		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	20406964	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	15372243		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	31296363		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	24060638	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	23170936, 24060638, 28692538		★☆☆☆☆ Found in Text Mining only
Microscopic Polyangiitis	Microscopic polyangiitis	Pubtator	37821442	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	28208835		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	28208835	Associate	★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	24891322		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	14672339, 23739222		★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	18513682, 27159321		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial Diseases	Mitochondrial disease	Pubtator	18513682	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	22703766		★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	BEFREE	29982327, 7536122		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	25412496	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	10632678, 32276581, 34193364, 37001702, 38357816	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	14517520, 22737215, 23298273		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	LHGDN	19189651		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	10989194, 28057743, 30405638, 32162328	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	11698282, 25460501		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	16625214, 22703766, 25736057, 29875313, 30649665		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	16625214, 17046070		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	16625214, 18378324, 38218802	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	29363161	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	11990865		★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	29367459	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	23734938		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	11122148, 15725470, 16954500, 22608605, 23734938, 24891322		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndrome with Isolated del(5q)	Myelodysplastic syndrome	BEFREE	15725470		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	34335093	Inhibit	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	7528567	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10390193, 10500825, 1907927		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10195920, 10385492, 11199329, 11257272, 11737243, 12011764, 12075251, 14575520, 14648231, 15116260, 15777548, 16516951, 17617027, 19795323, 21333644, 23277403, 26223654, 31183977		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	14587643, 18067042, 18752636, 23918401, 30886860, 37334672	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	14648231, 16331574		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	11796541, 19346955		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	32967511	Associate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	2168821, 37228600	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	23101184		★☆☆☆☆ Found in Text Mining only
Necrotizing encephalopathy, infantile subacute, of Leigh	Necrotizing encephalomyelopathy	CLINGEN_DG	17209039, 18513682, 18826940, 21556144, 22822087, 27159321, 27626371, 28857146, 9878551		★☆☆☆☆ Found in Text Mining only
Necrotizing Enterocolitis	Necrotizing Enterocolitis	BEFREE	16385250		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	16385250, 28013313		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1647137, 17574967, 19951991, 20179016, 20826579, 21476947, 23454751, 24064911, 24764579, 25633197, 25825750, 26561341, 26888865, 27325645, 27987237, 28061450, 29077168, 30368555, 30591487, 30806023, 31848188		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	1638477, 9484784		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	29959006		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	12974763	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	12699414	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19411762, 30629318		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	26161395, 32514618	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	30629318	Inhibit	★☆☆☆☆ Found in Text Mining only
Neurocognitive Disorders	Neurocognitive Disorders	BEFREE	28225719		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30619483		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	29941005		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29922458		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	CTD_human_DG	20353583		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	27895422, 28880885		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19572148		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	CTD_human_DG	20353583		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	14624155, 16472051, 21285942, 25384365, 29615659		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	18262644, 22309242, 28320058, 29142617	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	20930711, 27677832, 29203885, 31130968, 33678630, 36921085	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	32469992	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	28738359	Associate	★☆☆☆☆ Found in Text Mining only
Obesity Morbid	Obesity	Pubtator	37266430	Associate	★☆☆☆☆ Found in Text Mining only
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarticular Arthritis	BEFREE	19605672		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	BEFREE	25593026		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	17177994, 20650323, 21953087, 25544994, 32245507, 34899727, 37904379	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Hip	Osteoarthritis	Pubtator	36362408	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	32006659	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	7527738	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	16273622	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	35937796, 36973348, 37904379	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	23821519		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21372215		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	16893989, 17986374, 26957492		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28589429		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10682675, 19955923, 25658637	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	22311263, 23653148		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	19997857		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23359812	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	15599151, 16038043		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	LHGDN	16038043, 16273622		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	16273622, 28293095, 28705256, 30894427, 31507587	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Alcoholic	Pancreatitis	Pubtator	16273622	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	18509087, 22335964, 27769524	Associate	★☆☆☆☆ Found in Text Mining only
Paresis	Paresis	Pubtator	31507587	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	12573535, 16337421, 22921536		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	22921536, 32180132	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	30294923	Stimulate	★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	17869646, 18422849, 2462937, 31571381, 31701360, 7858265		★☆☆☆☆ Found in Text Mining only
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	BEFREE	28445424		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	21691249		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	15627645		★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	23146639, 24461398		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	12885845, 15491315, 17309585, 17448042		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	LHGDN	17448042, 18938271		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	12885845, 15491315, 16246938, 17309585, 19046305, 19318422, 21118416, 23046822, 23517107, 23582034, 25228314, 26174031, 28829191, 28910171, 31203191		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	23046822, 26581717, 27334899, 32210958, 35032412, 38218802	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	16890863, 27991581	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	16890863		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	28466815		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	16890863		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	36119051	Stimulate	★☆☆☆☆ Found in Text Mining only
Polyarthralgia	Polyarthralgia	BEFREE	29863307		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	21478181	Stimulate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	38189053	Associate	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	21476947		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	31818907		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	20653431, 26970220, 27860118		★☆☆☆☆ Found in Text Mining only
Primary Graft Dysfunction	Primary graft dysfunction	Pubtator	28341816	Associate	★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	31569199		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	26970220, 30269440		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19830784		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19830784, 19902470, 28073842, 33569050	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	24870592		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25085000	Stimulate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	16749413	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	30926417		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	11841490, 26563434		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	34279540, 36288286	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	11841490, 30341229		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	15544629, 19085563, 19361972, 21439805, 30532530, 34435653, 40234829	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	16004610	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	28463881		★☆☆☆☆ Found in Text Mining only
Reactive systemic amyloidosis	Reactive Systemic Amyloidosis	BEFREE	17187267		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	26546109, 31836304		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21703422		★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	BEFREE	29245956		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	21885391, 28302109		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	30420790		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	21885391, 28302109		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatic Chorea	Rheumatic Chorea	BEFREE	20080141		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10446857, 10446858, 1371728, 1378495, 15248214, 16467036, 16916546, 17009247, 17599732, 18565258, 20112365, 21690378, 21921097, 21968544, 23146660, 23490466, 24721042, 24725539, 24997655, 25535886, 25683200, 26546109, 26546613, 26838552, 27434862, 27495116, 28118944, 28183329, 28446753, 30210612, 30802366, 31086948, 31473844, 31836304, 9918236		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	18565258		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	LHGDN	16950521		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	BEFREE	21749458		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	21905503, 37286630	Associate	★☆☆☆☆ Found in Text Mining only
Rhinitis, Allergic, Perennial	Rhinitis	BEFREE	16950521		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	16933467, 20430603, 22609476, 7508361		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	LHGDN	16933467, 18496988		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	20430603, 35294531	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	8923508	Inhibit	★☆☆☆☆ Found in Text Mining only
Sarcoidosis Pulmonary	Sarcoidosis	Pubtator	32508528	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	19036083		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16916546		★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	1829991, 29858547	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	20404807, 34108969, 34504485	Associate	★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	11860442		★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	29239897		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	10632678, 12974763, 16444434, 17210974, 26241501, 27861595	Associate	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	23679576	Stimulate	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	9488406	Inhibit	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	11196689, 11445726, 12185442, 12404174, 12970043, 15520404, 16051275, 16611358, 17515856, 17989521, 18596635, 18991094, 20163933, 22770519, 23990939, 25394369, 25956456, 26020644, 26241501, 28119177, 28122493, 28249709, 28322834, 28562479, 28758124, 29211014, 29239264, 29251000, 31523578, 31584643, 7688151		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	17913858		★☆☆☆☆ Found in Text Mining only
Severe Aplastic Anemia	Anemia	BEFREE	24938700		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe periodontitis	Periodontitis	BEFREE	16246938		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	27142093, 29504848, 32576236	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	29858547, 36288286	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	24379126		★☆☆☆☆ Found in Text Mining only
Sleep-Disordered Breathing	Sleep Apnea	BEFREE	25604476		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	25792471		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	25792471	Associate	★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	12492251		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25238263		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22360618, 23454751, 28052009, 34502382	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	28693175		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	29444200		★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	15883205, 21557685, 25591771		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	17032401, 17295176, 18445359, 22768838, 28632732		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17438094, 19326213, 19337058, 19847953, 22955854, 23565226, 23824692, 24627605, 24978812, 29742730		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	23338226	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	23338226	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	24627605, 32415175, 38274323	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	34201498	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	35264400	Inhibit	★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	16368002		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	1378495		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	16014681, 29858547		★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	17577920	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	17577920		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	25046588, 36226612, 38123915	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	30700980		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34906209, 38170155	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	12126249, 12447682, 15655821, 16085746, 17565650, 18174680, 19275920, 19664152, 22192785, 22219617, 23049772, 23904440, 24776844, 29529212, 31206576, 31337064, 31541232		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	15655821, 15946916, 17565650		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21986138, 40156405	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Tract Infections	Urinary tract infection	Pubtator	27252945	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	26431490	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	10469047		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	25911752, 29530480	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	31519925	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	31169830	Stimulate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	25766482	Stimulate	★☆☆☆☆ Found in Text Mining only
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	35747245	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin A Deficiency	BEFREE	29885777		★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	10605046		★☆☆☆☆ Found in Text Mining only
Xanthomatosis	Xanthomatosis	Pubtator	24428816	Associate	★☆☆☆☆ Found in Text Mining only