MAOA (monoamine oxidase A)

Gene

• Entrez ID: 4128
• Gene name: Monoamine oxidase A
• Gene symbol: MAOA
• Synonyms (NCBI Gene): BRNRS, MAO-A
• Chromosome: X
• Chromosome location: Xp11.3
• Summary: This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. Mutation of this gene results in Brunner syndrome. This gene has

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs72554632	C>T	Pathogenic	Coding sequence variant, stop gained
rs138703731	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs587777457	G>T	Pathogenic	Missense variant, coding sequence variant
rs796065311	->T	Pathogenic	Frameshift variant, coding sequence variant
rs796065312	C>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1135401773	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555951288	A>G	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005902	hsa-miR-22-3p	Luciferase reporter assay, Microarray	21168126
MIRT1127569	hsa-miR-1202	CLIP-seq
MIRT1127570	hsa-miR-1255a	CLIP-seq
MIRT1127571	hsa-miR-1255b	CLIP-seq
MIRT1127572	hsa-miR-197	CLIP-seq
MIRT1127573	hsa-miR-21	CLIP-seq
MIRT1127574	hsa-miR-28-3p	CLIP-seq
MIRT1127575	hsa-miR-3123	CLIP-seq
MIRT1127576	hsa-miR-3125	CLIP-seq
MIRT1127577	hsa-miR-3126-5p	CLIP-seq
MIRT1127578	hsa-miR-3148	CLIP-seq
MIRT1127579	hsa-miR-3169	CLIP-seq
MIRT1127580	hsa-miR-330-3p	CLIP-seq
MIRT1127581	hsa-miR-3545-5p	CLIP-seq
MIRT1127582	hsa-miR-3611	CLIP-seq
MIRT1127583	hsa-miR-3614-3p	CLIP-seq
MIRT1127584	hsa-miR-3616-5p	CLIP-seq
MIRT1127585	hsa-miR-3647-5p	CLIP-seq
MIRT1127586	hsa-miR-3650	CLIP-seq
MIRT1127587	hsa-miR-3653	CLIP-seq
MIRT1127588	hsa-miR-3658	CLIP-seq
MIRT1127589	hsa-miR-3663-3p	CLIP-seq
MIRT1127590	hsa-miR-3672	CLIP-seq
MIRT1127591	hsa-miR-3681	CLIP-seq
MIRT1127592	hsa-miR-3691-5p	CLIP-seq
MIRT1127593	hsa-miR-371-5p	CLIP-seq
MIRT1127594	hsa-miR-371b-5p	CLIP-seq
MIRT1127595	hsa-miR-3916	CLIP-seq
MIRT1127596	hsa-miR-3919	CLIP-seq
MIRT1127597	hsa-miR-3920	CLIP-seq
MIRT1127598	hsa-miR-3925-5p	CLIP-seq
MIRT1127599	hsa-miR-3972	CLIP-seq
MIRT1127600	hsa-miR-4310	CLIP-seq
MIRT1127601	hsa-miR-4317	CLIP-seq
MIRT1127602	hsa-miR-4423-5p	CLIP-seq
MIRT1127603	hsa-miR-4424	CLIP-seq
MIRT1127604	hsa-miR-4433	CLIP-seq
MIRT1127605	hsa-miR-4436a	CLIP-seq
MIRT1127606	hsa-miR-4459	CLIP-seq
MIRT1127607	hsa-miR-4468	CLIP-seq
MIRT1127608	hsa-miR-4470	CLIP-seq
MIRT1127609	hsa-miR-4475	CLIP-seq
MIRT1127610	hsa-miR-4502	CLIP-seq
MIRT1127611	hsa-miR-4511	CLIP-seq
MIRT1127612	hsa-miR-452	CLIP-seq
MIRT1127613	hsa-miR-4645-3p	CLIP-seq
MIRT1127614	hsa-miR-4676-3p	CLIP-seq
MIRT1127615	hsa-miR-4682	CLIP-seq
MIRT1127616	hsa-miR-4693-5p	CLIP-seq
MIRT1127617	hsa-miR-4740-5p	CLIP-seq
MIRT1127618	hsa-miR-4756-3p	CLIP-seq
MIRT1127619	hsa-miR-4762-3p	CLIP-seq
MIRT1127620	hsa-miR-4766-3p	CLIP-seq
MIRT1127621	hsa-miR-4768-3p	CLIP-seq
MIRT1127622	hsa-miR-4773	CLIP-seq
MIRT1127623	hsa-miR-4774-3p	CLIP-seq
MIRT1127624	hsa-miR-4795-5p	CLIP-seq
MIRT1127625	hsa-miR-486-3p	CLIP-seq
MIRT1127626	hsa-miR-499-3p	CLIP-seq
MIRT1127627	hsa-miR-499a-3p	CLIP-seq
MIRT1127628	hsa-miR-512-5p	CLIP-seq
MIRT1127629	hsa-miR-513c	CLIP-seq
MIRT1127630	hsa-miR-514b-5p	CLIP-seq
MIRT1127631	hsa-miR-518d-5p	CLIP-seq
MIRT1127632	hsa-miR-519b-5p	CLIP-seq
MIRT1127633	hsa-miR-519c-5p	CLIP-seq
MIRT1127634	hsa-miR-520c-5p	CLIP-seq
MIRT1127635	hsa-miR-526a	CLIP-seq
MIRT1127636	hsa-miR-532-5p	CLIP-seq
MIRT1127637	hsa-miR-548b-3p	CLIP-seq
MIRT1127638	hsa-miR-548p	CLIP-seq
MIRT1127639	hsa-miR-573	CLIP-seq
MIRT1127640	hsa-miR-576-3p	CLIP-seq
MIRT1127641	hsa-miR-584	CLIP-seq
MIRT1127642	hsa-miR-590-5p	CLIP-seq
MIRT1127643	hsa-miR-592	CLIP-seq
MIRT1127644	hsa-miR-597	CLIP-seq
MIRT1127645	hsa-miR-621	CLIP-seq
MIRT1920607	hsa-miR-450b-5p	CLIP-seq
MIRT1127619	hsa-miR-4762-3p	CLIP-seq
MIRT1920608	hsa-miR-4766-5p	CLIP-seq
MIRT1920609	hsa-miR-507	CLIP-seq
MIRT1920610	hsa-miR-557	CLIP-seq
MIRT1920607	hsa-miR-450b-5p	CLIP-seq
MIRT1127619	hsa-miR-4762-3p	CLIP-seq
MIRT1920608	hsa-miR-4766-5p	CLIP-seq
MIRT1920609	hsa-miR-507	CLIP-seq
MIRT1920610	hsa-miR-557	CLIP-seq
MIRT1920607	hsa-miR-450b-5p	CLIP-seq
MIRT1127619	hsa-miR-4762-3p	CLIP-seq
MIRT1920608	hsa-miR-4766-5p	CLIP-seq
MIRT1920609	hsa-miR-507	CLIP-seq
MIRT1920610	hsa-miR-557	CLIP-seq
MIRT2036154	hsa-miR-1200	CLIP-seq
MIRT2036155	hsa-miR-1228	CLIP-seq
MIRT2036156	hsa-miR-1305	CLIP-seq
MIRT2036157	hsa-miR-1324	CLIP-seq
MIRT2036158	hsa-miR-1827	CLIP-seq
MIRT2036159	hsa-miR-3136-3p	CLIP-seq
MIRT2036160	hsa-miR-3145-5p	CLIP-seq
MIRT2036161	hsa-miR-3622b-5p	CLIP-seq
MIRT1127587	hsa-miR-3653	CLIP-seq
MIRT2036162	hsa-miR-380	CLIP-seq
MIRT2036163	hsa-miR-382	CLIP-seq
MIRT2036164	hsa-miR-421	CLIP-seq
MIRT2036165	hsa-miR-425	CLIP-seq
MIRT2036166	hsa-miR-4324	CLIP-seq
MIRT2036167	hsa-miR-4423-3p	CLIP-seq
MIRT2036168	hsa-miR-4426	CLIP-seq
MIRT1127604	hsa-miR-4433	CLIP-seq
MIRT1127606	hsa-miR-4459	CLIP-seq
MIRT1127608	hsa-miR-4470	CLIP-seq
MIRT2036169	hsa-miR-4495	CLIP-seq
MIRT2036170	hsa-miR-4639-5p	CLIP-seq
MIRT2036171	hsa-miR-4647	CLIP-seq
MIRT2036172	hsa-miR-4649-3p	CLIP-seq
MIRT2036173	hsa-miR-4662b	CLIP-seq
MIRT2036174	hsa-miR-4691-5p	CLIP-seq
MIRT2036175	hsa-miR-4712-5p	CLIP-seq
MIRT2036176	hsa-miR-4733-3p	CLIP-seq
MIRT1127621	hsa-miR-4768-3p	CLIP-seq
MIRT2036177	hsa-miR-4802-3p	CLIP-seq
MIRT2036178	hsa-miR-491-3p	CLIP-seq
MIRT2036179	hsa-miR-508-5p	CLIP-seq
MIRT2036180	hsa-miR-513b	CLIP-seq
MIRT2036181	hsa-miR-543	CLIP-seq
MIRT2036182	hsa-miR-544b	CLIP-seq
MIRT2036183	hsa-miR-605	CLIP-seq
MIRT2036184	hsa-miR-770-5p	CLIP-seq
MIRT2036185	hsa-miR-922	CLIP-seq
MIRT2036154	hsa-miR-1200	CLIP-seq
MIRT2266483	hsa-miR-3074-5p	CLIP-seq
MIRT2266484	hsa-miR-4796-3p	CLIP-seq
MIRT2266485	hsa-miR-520g	CLIP-seq
MIRT2266486	hsa-miR-520h	CLIP-seq
MIRT2266487	hsa-miR-640	CLIP-seq
MIRT1127593	hsa-miR-371-5p	CLIP-seq
MIRT1127594	hsa-miR-371b-5p	CLIP-seq
MIRT1127629	hsa-miR-513c	CLIP-seq
MIRT1127630	hsa-miR-514b-5p	CLIP-seq
MIRT2565872	hsa-miR-1253	CLIP-seq
MIRT2565873	hsa-miR-22	CLIP-seq
MIRT2565874	hsa-miR-4271	CLIP-seq
MIRT2565875	hsa-miR-4297	CLIP-seq
MIRT2565876	hsa-miR-4685-5p	CLIP-seq
MIRT2565877	hsa-miR-4716-3p	CLIP-seq
MIRT2565878	hsa-miR-4725-3p	CLIP-seq
MIRT2565879	hsa-miR-625	CLIP-seq
MIRT2565872	hsa-miR-1253	CLIP-seq
MIRT2565873	hsa-miR-22	CLIP-seq
MIRT2565874	hsa-miR-4271	CLIP-seq
MIRT2565875	hsa-miR-4297	CLIP-seq
MIRT2565876	hsa-miR-4685-5p	CLIP-seq
MIRT2565877	hsa-miR-4716-3p	CLIP-seq
MIRT2565878	hsa-miR-4725-3p	CLIP-seq
MIRT2565879	hsa-miR-625	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NHLH2	Activation	22169038
NR3C1	Unknown	16728402

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 30021884, 33961781
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	TAS	24252804
GO:0005829	Component	Cytosol	IDA
GO:0006576	Process	Biogenic amine metabolic process	TAS	8211186
GO:0006584	Process	Catecholamine metabolic process	IEA
GO:0008131	Function	Primary methylamine oxidase activity	IBA
GO:0008131	Function	Primary methylamine oxidase activity	IDA	20493079
GO:0008131	Function	Primary methylamine oxidase activity	IEA
GO:0009967	Process	Positive regulation of signal transduction	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0042420	Process	Dopamine catabolic process	IEA
GO:0042420	Process	Dopamine catabolic process	IEA
GO:0042420	Process	Dopamine catabolic process	TAS	24252804
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA
GO:0097621	Function	Monoamine oxidase activity	IDA	20493079
GO:0097621	Function	Monoamine oxidase activity	IEA

Other IDs

• MIM: 309850
• HGNC: 6833
• e!Ensembl: ENSG00000189221

Protein

• UniProt ID: P21397
• Protein name: Amine oxidase [flavin-containing] A (EC 1.4.3.21) (EC 1.4.3.4) (Monoamine oxidase type A) (MAO-A)
• Protein function: Catalyzes the oxidative deamination of primary and some secondary amine such as neurotransmitters, with concomitant reduction of oxygen to hydrogen peroxide and has important functions in the metabolism of neuroactive and vasoactive amines in th
• PDB: 2BXR, 2BXS, 2Z5X, 2Z5Y
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01593	Amino_oxidase	23 → 460	Flavin containing amine oxidoreductase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Heart, liver, duodenum, blood vessels and kidney.
• Sequence:

  MENQEKASIAGHMFDVVVIGGGISGLSAAKLLTEYGVSVLVLEARDRVGGRTYTIRNEHV
  DYVDVGGAYVGPTQNRILRLSKELGIETYKVNVSERLVQYVKGKTYPFRGAFPPVWNPIA
  YLDYNNLWRTIDNMGKEIPTDAPWEAQHADKWDKMTMKELIDKICWTKTARRFAYLFVNI
  NVTSEPHEVSALWFLWYVKQCGGTTRIFSVTNGGQERKFVGGSGQVSERIMDLLGDQVKL
  NHPVTHVDQSSDNIIIETLNHEHYECKYVINAIPPTLTAKIHFRPELPAERNQLIQRLPM
  GAVIKCMMYYKEAFWKKKDYCGCMIIEDEDAPISITLDDTKPDGSLPAIMGFILARKADR
  LAKLHKEIRKKKICELYAKVLGSQEALHPVHYEEKNWCEEQYSGGCYTAYFPPGIMTQYG
  RVIRQPVGRIFFAGTETATKWSGYMEGAVEAGERAAREVLNGLGKVTEKDIWVQEPESKD
  VPAVEITHTFWERNLPSVSGLLKIIGFSTSVTALGFVLYKYKLLPRS

• Sequence length: 527

Pathways

KEGG:

Glycine, serine and threonine metabolism
Arginine and proline metabolism
Histidine metabolism
Tyrosine metabolism
Phenylalanine metabolism
Tryptophan metabolism
Drug metabolism - cytochrome P450
Metabolic pathways
Serotonergic synapse
Dopaminergic synapse
Parkinson disease
Cocaine addiction
Amphetamine addiction
Alcoholism

Reactome:

Biogenic amines are oxidatively deaminated to aldehydes by MAOA and MAOB
Norepinephrine Neurotransmitter Release Cycle
Enzymatic degradation of dopamine by COMT
Enzymatic degradation of Dopamine by monoamine oxidase
Metabolism of serotonin
Defective MAOA causes Brunner syndrome (BRUNS)
Interleukin-4 and Interleukin-13 signaling

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
Antisocial behavior, susceptibility to	Pathogenic	rs1346551029	RCV000010646	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism, severe	Pathogenic	rs1346551029	RCV000010647	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brunner syndrome	Pathogenic; Likely pathogenic	rs2147107556, rs587777457, rs796065312, rs796065311, rs72554632, rs2519132239, rs1135401773, rs2033551253	RCV001388308 RCV000128399 RCV000190424 RCV000190423 RCV000010645 RCV004560486 RCV000496099 RCV004799617	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTISOCIAL PERSONALITY DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLINICAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER, TREATMENT-RESISTANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTHYMIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATIC ENCEPHALOPATHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAOA-related disorder	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PHEOCHROMOCYTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MAJOR DEPRESSION WITH PSYCHOTIC FEATURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal involuntary movement	Abnormal Involuntary Movement	BEFREE	15261699		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10360674		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	29844571, 30259128		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	29844571		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	22569243		★☆☆☆☆ Found in Text Mining only
Agoraphobia	Agoraphobia	BEFREE	15670397		★☆☆☆☆ Found in Text Mining only
Akinetic-Rigid Variant of Huntington Disease	Akinetic-Rigid Variant Of Huntington Disease	CTD_human_DG	21075085		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18454435, 26417591	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	16186632		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	27163814		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	34194442	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	34194442	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	18804811		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	Pubtator	21295226, 29600412	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	14508509, 15523490		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	LHGDN	15523490		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	10049583, 12554604, 12824808, 15088154, 17007976, 17429405, 18752729, 19302089, 19829167, 20175604, 20850185, 21295226, 21554924, 22985017, 25497297, 26690459, 26851573, 28851912, 29467046, 29746646, 29843018, 30852703, 31681122		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antisocial Personality Disorder	Antisocial Personality Disorder	CTD_human_DG	12161658, 18212819, 8503438		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	17429405, 18454435, 19120058, 19804559, 20175604, 20201935, 20364435, 20850185, 21152968, 21295226, 21554924, 21628708, 22297589, 22552845, 22610759, 22781862, 23480342, 25060544, 26690459, 28031080, 28851912, 29746646, 30569215	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety Disorder	BEFREE	15523490, 15870836, 16547693, 18566880, 22169038, 23627963, 24118915, 24119940, 24229476, 25547397, 25747527, 26825854, 27614969, 28251298, 28413107, 30687104, 31045220, 31448578		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	18566880, 24118915, 30656852, 31448578, 35396540	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	11204346, 15450911, 15523490, 16547693, 18566880, 22169038, 23627963, 24118915, 24119940, 24229476, 25142096, 25547397, 25747527, 26825854, 27614969, 28251298, 28413107, 28694764, 30687104, 31045220, 31448578		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	24118915, 25059547, 25547397, 32133483	Associate	★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	22365943	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	23116433, 23723362, 30021838		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	29602729		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	20826063	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	23116433, 23723362, 30021838		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	23116433, 23723362, 30021838	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit and Disruptive Behavior Disorders	Attention deficit hyperactivity disorder	Pubtator	18430257, 19309535, 30126429	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	16894395, 17328795, 18430257, 18566880, 19309535, 19661285, 21778150, 23746540, 24169519, 24977324, 27341797, 28982350, 30344263, 30379906, 37285328	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	10374746, 11803531, 12140786, 12497620, 15717295, 16856146, 16959425, 17230031, 17328795, 17427196, 18075472, 18180757, 18188752, 18430257, 18726986, 19309535, 19829167, 19941049, 21610556, 21761555, 21778150, 21826446, 23076524, 23746540, 24652311, 24942140, 25487813, 27064247, 27341797, 28259004, 28982350, 30379906, 30569215, 31706600		★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	18566880	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	18566880, 19100789, 21538940, 24169519, 33767242	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	18566880, 19100789, 20573161, 24169519, 24291416, 24356376, 29748850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	BEFREE	12919132		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	10374746, 11920849, 12919132, 15048649, 18361446, 20573161, 21538940, 24356376, 28151561, 31170382		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	12919132, 18361446, 20573161		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	18361446, 19661285, 21538940, 24169519	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	20826063	Associate	★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	BEFREE	18075472, 9491813		★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	CTD_human_DG	22340208		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	10335547, 10402508, 10483059, 10686549, 10831475, 15564894, 15727488, 15936529, 16958037, 18437281, 20010318, 23044341, 7485269, 7485270, 8776592, 9342194, 9807650		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	18437281, 18504633, 20010318, 21438144, 23044341		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	19357553, 27063557	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	BEFREE	27900600		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	28993189	Associate	★☆☆☆☆ Found in Text Mining only
Borderline intellectual disability	Mental retardation	BEFREE	7919920, 8613523, 8776592, 9326944		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	17417058, 19032968, 22139575, 24355137, 29073746		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	Pubtator	22139575	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	21422455, 31441562	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	21422455	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	30259128		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25152370, 29695771, 31754354		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29261141, 29775160, 31754354, 35686034, 37841082	Associate	★☆☆☆☆ Found in Text Mining only
Brunner Syndrome	Brugada Syndrome	BEFREE	24169519		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brunner Syndrome	Brugada Syndrome	GENOMICS_ENGLAND_DG	24169519, 25807999, 27830117		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brunner Syndrome	Brugada Syndrome	ORPHANET_DG	24169519, 8211186		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brunner Syndrome	Brunner syndrome	Pubtator	24169519, 34923109, 36536002	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brunner Syndrome	Brugada Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brunner Syndrome	Brugada Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carcinogenesis	Carcinogenesis	Pubtator	36233054, 37841082	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24607627	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23197227	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	18361446	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	26122707, 29695771		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	23723362, 25810277		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	23116433	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	23116433		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	23692152		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	19010890, 22906985, 29435065		★☆☆☆☆ Found in Text Mining only
Chronic Liver Failure	Liver failure	CTD_human_DG	15025246		★☆☆☆☆ Found in Text Mining only
clinical depression	Mental Depression	BEFREE	21373759		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
clinical depression	Mental Depression	PSYGENET_DG	21373759, 22045496		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognitive disorder	CTD_human_DG	24402517		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognitive disorder	BEFREE	9564605		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	34564978	Associate	★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	15694196, 19455600, 19772578		★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct Disorder	BEFREE	15237086, 16741202, 18592036, 18752729, 19255579, 24652311, 25747527, 26851573, 29600412, 29855796, 8771218		★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct disorder	Pubtator	18752729, 20364435	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	Pubtator	20175604, 22781862	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	26959532, 28705604, 31819159		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	35872023	Stimulate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	17585061	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	18474080		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	18639608		★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	PSYGENET_DG	23512949		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	11326308, 12151768, 17347351, 18626920, 18971477, 19005081, 19357553, 19657584, 19738481, 20204405, 20826063, 21373759, 21605465, 22239616, 22382901, 22836288, 23063133, 23157339, 23449091, 23627963, 24314147, 24443391, 24809685, 25152370, 25502632, 25623016, 26620113, 26825854, 27840401, 28034283, 28109809, 28293733, 28365314, 28413107, 28694764, 29163009, 29335210, 29400049, 29472774, 29478144, 29496172, 29600412, 30271325, 30712820, 30943524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	17585061, 19337825, 19357553, 19572987, 19661285, 20175604, 20826063, 21605465, 25059547, 25655492, 29600412, 30656852, 40416692	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	23512949, 24314147, 24652311, 25152370, 25623016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	19357553, 19657584, 21605465, 22030358, 32524199	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	20485326	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30167938		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23692152, 30167938		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37958805	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	22547424		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	26122707		★☆☆☆☆ Found in Text Mining only
Disruptive Behavior Disorder	Disruptive Behavior Disorder	BEFREE	18075472		★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	18566880, 19357553, 22365943, 31441562	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	17167335		★☆☆☆☆ Found in Text Mining only
Dysautonomia, Familial	Dysautonomia	BEFREE	16125677, 17985250		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	24008922		★☆☆☆☆ Found in Text Mining only
Dysphoric mood	Mood Disorder	BEFREE	29549852		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	15486489, 16944667		★☆☆☆☆ Found in Text Mining only
Dysthymic Disorder	Dysthymic Disorder	BEFREE	22030358		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysthymic Disorder	Dysthymic Disorder	PSYGENET_DG	22030358		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysthymic Disorder	Dysthymic disorder	Pubtator	22030358	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	24360188, 28181067		★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	CTD_human_DG	15025246		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	21063030		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	21063030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	20435093, 30465982		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	22499122	Inhibit	★☆☆☆☆ Found in Text Mining only
Familial Exudative Vitreoretinopathy	Exudative Vitreoretinopathy	BEFREE	8252044		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	17681180		★☆☆☆☆ Found in Text Mining only
Fetal Malnutrition	Poor fetal nutrition	CTD_human_DG	22340208		★☆☆☆☆ Found in Text Mining only
Fetal Nutrition Disorders	Disorder of fetal nutrition	CTD_human_DG	22340208		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31344280		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	17340199		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	18474080		★☆☆☆☆ Found in Text Mining only
Fulminant Hepatic Failure with Cerebral Edema	Fulminant Hepatic Failure With Cerebral Edema	CTD_human_DG	10206825, 10564534, 9048767		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	15094788, 24422758, 9491813		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31115504		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	16728402, 31556016	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31556016		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31556016		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28722111, 31556016	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30259128		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	23414621		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	19255579		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	26959532, 28705604, 31819159		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	28044091	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Coma	Hepatic Coma	CTD_human_DG	10206825, 10564534, 9048767		★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	CTD_human_DG	10206825, 10564534, 9048767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Encephalopathy	Hepatic Encephalopathy	BEFREE	9048767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Encephalopathy	Hepatic encephalopathy	Pubtator	9048767	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Stupor	Hepatic Stupor	CTD_human_DG	10206825, 10564534, 9048767		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	29261141	Stimulate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	28722111		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	CTD_human_DG	21075085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington Disease	BEFREE	26081309, 26825854		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease, Late Onset	Huntington Disease	CTD_human_DG	21075085		★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	19804559	Associate	★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperprolactinemia	BEFREE	30967134		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28682929		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	19915868		★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	10759301		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31425745, 9564605		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	20595415	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	LHGDN	17167335		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	22365943, 23871722, 36536002, 8613523	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	BEFREE	24169519		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	29695771		★☆☆☆☆ Found in Text Mining only
Juvenile Huntington Disease	Huntington Disease	CTD_human_DG	21075085		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	23197227	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24607627		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28617549, 30021838	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37403079	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	20850185	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	28722111		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	18804811	Associate	★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	10402508, 10686549, 7485269, 7485270, 8776592, 9342194		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	10402508, 10686549, 7485269, 7485270, 8776592, 9342194		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	10402508, 10686549, 7485269, 7485270, 8776592, 9342194		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	10402508, 10686549, 7485269, 7485270, 8776592, 9342194		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	10402508, 10686549, 7485269, 7485270, 8776592, 9342194		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	10402508, 10686549, 7485269, 7485270, 8776592, 9342194		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	10402508, 10686549, 7485269, 7485270, 8776592, 9342194		★☆☆☆☆ Found in Text Mining only
Major depression, single episode	Mental Depression	BEFREE	17884271		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	10331110, 11121185, 12502014, 12555227, 15486489, 15564894, 15956990, 17192957, 17417064, 17453062, 17884271, 18337637, 18544183, 19224413, 19382113, 19593178, 19657584, 20010318, 20175604, 20459391, 20691428, 21438144, 21605465, 21654740, 23157339, 24809685, 25502632, 25828849, 28435083, 30635228, 9807650		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	21654740, 22030358, 23157339, 23221997, 24809685		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	25152370, 29695771, 31754354		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18804811, 20204405, 22473857, 24865426, 28292438, 28351947, 28402333, 29679664, 29844571, 30021838, 30259128, 30468220, 30693539, 30974737, 31621760		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16829574, 18366702, 18804811, 24607627, 24865426, 25152370, 29435065, 29844571, 30259128		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	10050962, 8541872, 8678123		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	31754354		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	8776592		★☆☆☆☆ Found in Text Mining only
Mediastinal (Thymic) Large B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	28722111		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	11701728		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	11326308, 16174289, 17347351, 18626920, 18971477, 19005081, 19357553, 19657584, 19738481, 20204405, 20826063, 21373759, 21605465, 22239616, 22382901, 22836288, 23063133, 23157339, 23449091, 23627963, 24314147, 24443391, 24809685, 25152370, 25502632, 25623016, 26620113, 26825854, 27840401, 28034283, 28109809, 28293733, 28365314, 28413107, 28694764, 29163009, 29335210, 29472774, 29478144, 29496172, 29600412, 30271325, 30712820, 30943524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	23512949, 24314147, 24652311, 25152370, 25623016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	11304831, 12366871, 12566936, 16436187, 16526025, 16538181, 18454435, 20399868, 21295226, 21978760, 22885141, 23723362, 24607627, 26227907, 29600412, 29667298, 29746646, 30126429, 30242487, 30271325, 30687104, 31626105, 31706600		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	LHGDN	18046979		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	CTD_human_DG	22340208		★☆☆☆☆ Found in Text Mining only
Mental Disorders, Severe	Mental Disorders	CTD_human_DG	22340208		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	22365943		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	CTD_human_DG	8503438		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 9	Mental retardation	BEFREE	8288232		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	15088153, 15694196, 16200390, 17563839, 22193458, 23811028, 26632697		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	20213484	Associate	★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	19455600, 19772578		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine	Pubtator	19772578	Associate	★☆☆☆☆ Found in Text Mining only
Migraine without Aura	Migraine	Pubtator	19772578	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	21678067, 36915111, 37410216	Associate	★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	20477771		★☆☆☆☆ Found in Text Mining only
Monoamine oxidase A deficiency	Brunner syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	10402508, 10483059, 10686545, 11121185, 11992558, 15150530, 15564894, 17692293, 18437281, 19224413, 20010318, 20374544, 21438144, 25547397, 27614969, 9342198		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	LHGDN	16319504, 18046979		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	19224413, 20010318, 20374544, 21438144, 25547397		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood swings	Mood swings	BEFREE	24652311		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	21422455	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	30850265		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	11701728		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	15946989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	CTD_human_DG	15946989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Narcolepsy	Narcolepsy	BEFREE	11443519		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32273550	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22569243, 28292438, 29695771, 9120730		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28034283, 28567002, 29435065, 29642294, 30021838		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	16728402, 17883400, 30336354	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17393061, 17883400, 21373759, 21521428, 24051032, 25841787, 26903268, 27984078, 30336354, 7903862		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	16336631	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27863747, 29247860, 29324067, 29335210, 29496172, 30341696, 30789704, 31291696		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	28402333		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	12815746, 22193458, 29075213, 31448578		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29435065		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	19368859, 9807650		★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	BEFREE	20679667, 2293615, 2483108, 2744764, 2773935, 7558002, 7759098, 8252044, 8440142, 8541872, 8613523		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	15034227, 16674552, 18076117, 19337825, 23544600, 23761378, 26698543, 28629779		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19337825, 19818126, 20826063, 23761378	Associate	★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	10331110, 11353450, 12650952, 12815746, 15013025, 15468463, 22665263, 23746491, 25793616		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	29261141		★☆☆☆☆ Found in Text Mining only
Oppositional Defiant Disorder	Oppositional Defiant Disorder	BEFREE	23627963, 24652311, 30126429		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	31291555		★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	BEFREE	15346539, 27045843		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	10072430, 11121185, 12555227, 12607224, 15523490, 22436428, 22911667, 23319006, 27045843, 28712090		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panic Disorder	Panic Disorder	LHGDN	12555227, 12607224		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panic Disorder	Panic disorder	Pubtator	15670397, 22436428, 27045843, 32524199	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paranoid Schizophrenia	Paranoid Schizophrenia	BEFREE	22162429, 22198720		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	10050962, 10643794, 11326308, 12098640, 12428723, 14962671, 17044053, 18278816, 24008922, 27863747, 28034283, 28109809, 28251489, 28299453, 28418735, 28682929, 29050386, 29335210, 30336354, 7913737, 8929994, 9642149		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	16336631, 30336354, 34528139	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	CTD_human_DG	17449559		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	2023912	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	1341965, 28418735, 29050386, 30903943		★☆☆☆☆ Found in Text Mining only
Personality Disorders	Personality Disorders	BEFREE	15870836, 21295226, 31448578		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	18566880, 20573161, 24169519, 24291416, 24356376, 29748850		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	22569243		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pheochromocytoma	Pheochromocytoma	CTD_human_DG	22569243		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pheochromocytoma, Extra-Adrenal	Extra-Adrenal Pheochromocytoma	CTD_human_DG	22569243		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	18474080		★☆☆☆☆ Found in Text Mining only
Pleuropulmonary blastoma	Pleuropulmonary blastoma	BEFREE	28289215		★☆☆☆☆ Found in Text Mining only
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	Pubtator	21422455	Associate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29186431, 31291228		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	18639608		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18804811, 20204405, 22473857, 24865426, 28292438, 28351947, 28402333, 29679664, 29844571, 30021838, 30259128, 30468220, 30693539, 30974737, 31621760		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18804811, 22473857, 26499200, 28402333, 28722111, 30021838, 30693539, 30974737, 33513133, 33795839, 36452480, 37403079, 37841082, 37958805	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	24865426		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	19368859, 22885141, 25073638, 9807650		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	PSYGENET_DG	25073638		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	BEFREE	27900600		★☆☆☆☆ Found in Text Mining only
Recurrent major depressive episodes	Mental Depression	BEFREE	11304831		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	12136060, 20184941, 20589923		★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	23512949		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11304831, 12116182, 12648733, 14520117, 15211623, 15261699, 16725119, 17894408, 19508883, 19573521, 20041956, 20589923, 21978760, 22162429, 22198720, 22544010, 23512949, 24356376, 24510409, 26851573, 28094812, 30242487, 30967134, 8710185, 8804132, 9807650		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	18046979		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	24510409, 25073638		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sclerosis	Sclerosis	Pubtator	28722111	Associate	★☆☆☆☆ Found in Text Mining only
Seasonal Affective Disorder	Seasonal Affective Disorder	BEFREE	30242221		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	22365943	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	8613523		★☆☆☆☆ Found in Text Mining only
Severe major depression with psychotic features	Mental Depression With Psychotic Features	PSYGENET_DG	23221997, 23512949		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Deprivation	Sleep deprivation	Pubtator	30336354	Stimulate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	15486489, 16944667		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	22499122		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	17229543, 33855088, 36915111	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	30465982		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	10049583		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	23480342, 39529035	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	10483059, 11121185, 12502014, 12555227, 15486489, 15564894, 15956990, 17192957, 17417064, 17453062, 17884271, 18337637, 18544183, 19382113, 19593178, 19657584, 20010318, 20175604, 20459391, 20691428, 21438144, 21605465, 21654740, 24809685, 9807650		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	21654740, 22030358, 23157339, 23221997, 24809685		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36233054	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	23670301		★☆☆☆☆ Found in Text Mining only
Vascular ring	Vascular ring	BEFREE	31051081		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction	Ventricular dysfunction	Pubtator	28044091	Associate	★☆☆☆☆ Found in Text Mining only