SLC6A3 (solute carrier family 6 member 3)

Gene

• Entrez ID: 6531
• Gene name: Solute carrier family 6 member 3
• Gene symbol: SLC6A3
• Synonyms (NCBI Gene): DAT, DAT1, PKDYS, PKDYS1
• Chromosome: 5
• Chromosome location: 5p15.33
• Summary: This gene encodes a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3` UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs71653633	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs186229286	G>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs267607068	A>T	Pathogenic	Missense variant, coding sequence variant
rs267607069	G>A	Pathogenic	Missense variant, coding sequence variant
rs431905504	C>T	Pathogenic	Splice donor variant
rs431905514	C>T	Likely-pathogenic	Splice donor variant
rs431905515	A>G	Pathogenic	Coding sequence variant, missense variant
rs431905516	G>A	Pathogenic	Coding sequence variant, missense variant
rs749320240	G>-,GG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064795122	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1579729357	G>A	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1366331	hsa-miR-1343	CLIP-seq
MIRT1366332	hsa-miR-19a	CLIP-seq
MIRT1366333	hsa-miR-19b	CLIP-seq
MIRT1366334	hsa-miR-2110	CLIP-seq
MIRT1366335	hsa-miR-3074-5p	CLIP-seq
MIRT1366336	hsa-miR-3160-3p	CLIP-seq
MIRT1366337	hsa-miR-4271	CLIP-seq
MIRT1366338	hsa-miR-4299	CLIP-seq
MIRT1366339	hsa-miR-4487	CLIP-seq
MIRT1366340	hsa-miR-4494	CLIP-seq
MIRT1366341	hsa-miR-4710	CLIP-seq
MIRT1366342	hsa-miR-4725-3p	CLIP-seq
MIRT1366343	hsa-miR-4792	CLIP-seq
MIRT1366344	hsa-miR-498	CLIP-seq
MIRT1366345	hsa-miR-505	CLIP-seq
MIRT1366346	hsa-miR-558	CLIP-seq
MIRT1366347	hsa-miR-592	CLIP-seq
MIRT1366348	hsa-miR-597	CLIP-seq
MIRT1366349	hsa-miR-671-5p	CLIP-seq
MIRT1366350	hsa-miR-892a	CLIP-seq
MIRT2108731	hsa-miR-1184	CLIP-seq
MIRT2108732	hsa-miR-1205	CLIP-seq
MIRT1366331	hsa-miR-1343	CLIP-seq
MIRT1366335	hsa-miR-3074-5p	CLIP-seq
MIRT2108733	hsa-miR-3157-3p	CLIP-seq
MIRT2108734	hsa-miR-3615	CLIP-seq
MIRT2108735	hsa-miR-4290	CLIP-seq
MIRT1366338	hsa-miR-4299	CLIP-seq
MIRT2108736	hsa-miR-4418	CLIP-seq
MIRT2108737	hsa-miR-4667-3p	CLIP-seq
MIRT1366341	hsa-miR-4710	CLIP-seq
MIRT2108738	hsa-miR-4768-5p	CLIP-seq
MIRT1366343	hsa-miR-4792	CLIP-seq
MIRT2108739	hsa-miR-509-3-5p	CLIP-seq
MIRT2108740	hsa-miR-509-5p	CLIP-seq
MIRT2108741	hsa-miR-874	CLIP-seq
MIRT2332372	hsa-miR-103a	CLIP-seq
MIRT2332373	hsa-miR-107	CLIP-seq
MIRT2108731	hsa-miR-1184	CLIP-seq
MIRT2332374	hsa-miR-27a	CLIP-seq
MIRT2332375	hsa-miR-27b	CLIP-seq
MIRT2108736	hsa-miR-4418	CLIP-seq
MIRT2108739	hsa-miR-509-3-5p	CLIP-seq
MIRT2108740	hsa-miR-509-5p	CLIP-seq
MIRT2332376	hsa-miR-513a-5p	CLIP-seq
MIRT2332377	hsa-miR-628-5p	CLIP-seq
MIRT2108741	hsa-miR-874	CLIP-seq
MIRT2459867	hsa-miR-3922-5p	CLIP-seq
MIRT2459868	hsa-miR-4514	CLIP-seq
MIRT2459869	hsa-miR-4645-5p	CLIP-seq
MIRT2459870	hsa-miR-4673	CLIP-seq
MIRT2459871	hsa-miR-4692	CLIP-seq
MIRT2459872	hsa-miR-4753-5p	CLIP-seq
MIRT2459873	hsa-miR-4755-3p	CLIP-seq
MIRT2459874	hsa-miR-574-5p	CLIP-seq
MIRT2459875	hsa-miR-759	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NR4A2	Unknown	19494806

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001504	Process	Neurotransmitter uptake	IEA
GO:0002020	Function	Protease binding	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005326	Function	Neurotransmitter transmembrane transporter activity	IEA
GO:0005326	Function	Neurotransmitter transmembrane transporter activity	ISS
GO:0005330	Function	Dopamine:sodium symporter activity	IDA	1406597, 8302271, 10375632, 11093780, 15505207
GO:0005330	Function	Dopamine:sodium symporter activity	IEA
GO:0005330	Function	Dopamine:sodium symporter activity	IMP	19478460
GO:0005334	Function	Norepinephrine:sodium symporter activity	IEA
GO:0005515	Function	Protein binding	IPI	11343649, 12958153, 15505207, 17380124, 17519329, 20018661, 21957239, 22163275, 28734904
GO:0005737	Component	Cytoplasm	TAS	10823899
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11343649, 12958153, 15505207, 21957239
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006836	Process	Neurotransmitter transport	ISS
GO:0006865	Process	Amino acid transport	IBA
GO:0007595	Process	Lactation	IEA
GO:0007608	Process	Sensory perception of smell	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008504	Function	Monoamine transmembrane transporter activity	IDA	16024787
GO:0008504	Function	Monoamine transmembrane transporter activity	IEA
GO:0008504	Function	Monoamine transmembrane transporter activity	ISS
GO:0008504	Function	Monoamine transmembrane transporter activity	TAS
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009986	Component	Cell surface	IDA	21399631
GO:0009986	Component	Cell surface	IEA
GO:0010039	Process	Response to iron ion	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015844	Process	Monoamine transport	IDA	16024787
GO:0015872	Process	Dopamine transport	IDA	15505207
GO:0015872	Process	Dopamine transport	IEA
GO:0015872	Process	Dopamine transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8628395
GO:0016600	Component	Flotillin complex	IDA	21399631
GO:0021984	Process	Adenohypophysis development	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030424	Component	Axon	IDA	12958153
GO:0030424	Component	Axon	IEA
GO:0035094	Process	Response to nicotine	IEA
GO:0035240	Function	Dopamine binding	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0042053	Process	Regulation of dopamine metabolic process	IEA
GO:0042220	Process	Response to cocaine	IEA
GO:0042416	Process	Dopamine biosynthetic process	IEA
GO:0042420	Process	Dopamine catabolic process	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IDA	21957239
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IDA	12958153
GO:0043176	Function	Amine binding	IEA
GO:0043679	Component	Axon terminus	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045121	Component	Membrane raft	IDA	21957239
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050890	Process	Cognition	IEA
GO:0051583	Process	Dopamine uptake involved in synaptic transmission	TAS
GO:0051591	Process	Response to cAMP	IEA
GO:0051620	Process	Norepinephrine uptake	IEA
GO:0051721	Function	Protein phosphatase 2A binding	IEA
GO:0060134	Process	Prepulse inhibition	IEA
GO:0090494	Process	Dopamine uptake	IDA	21957239
GO:0090494	Process	Dopamine uptake	IEA
GO:0090494	Process	Dopamine uptake	ISS
GO:0098691	Component	Dopaminergic synapse	IEA
GO:1901363	Function	Heterocyclic compound binding	IEA
GO:1990384	Process	Hyaloid vascular plexus regression	IEA
GO:1990384	Process	Hyaloid vascular plexus regression	ISS

Other IDs

• MIM: 126455
• HGNC: 11049
• e!Ensembl: ENSG00000142319

Protein

• UniProt ID: Q01959
• Protein name: Sodium-dependent dopamine transporter (DA transporter) (DAT) (Solute carrier family 6 member 3)
• Protein function: Mediates sodium- and chloride-dependent transport of dopamine (PubMed:10375632, PubMed:11093780, PubMed:1406597, PubMed:15505207, PubMed:19478460, PubMed:39112701, PubMed:39112703, PubMed:39112705, PubMed:8302271). Also mediates sodium- and chlo
• PDB: 8VBY, 8Y2C, 8Y2D, 8Y2E, 8Y2F, 8Y2G, 9EO4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00209	SNF	60 → 583	Sodium:neurotransmitter symporter family	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in substantia nigra (PubMed:7637582). Expressed in axonal varicosities in dopaminergic nerve terminals (at protein level) (PubMed:17296554). Expressed in the striatum (at protein level) (PubMed:17296554). {ECO:0000269|
• Sequence:

  MSKSKCSVGLMSSVVAPAKEPNAVGPKEVELILVKEQNGVQLTSSTLTNPRQSPVEAQDR
  ETWGKKIDFLLSVIGFAVDLANVWRFPYLCYKNGGGAFLVPYLLFMVIAGMPLFYMELAL
  GQFNREGAAGVWKICPILKGVGFTVILISLYVGFFYNVIIAWALHYLFSSFTTELPWIHC
  NNSWNSPNCSDAHPGDSSGDSSGLNDTFGTTPAAEYFERGVLHLHQSHGIDDLGPPRWQL
  TACLVLVIVLLYFSLWKGVKTSGKVVWITATMPYVVLTALLLRGVTLPGAIDGIRAYLSV
  DFYRLCEASVWIDAATQVCFSLGVGFGVLIAFSSYNKFTNNCYRDAIVTTSINSLTSFSS
  GFVVFSFLGYMAQKHSVPIGDVAKDGPGLIFIIYPEAIATLPLSSAWAVVFFIMLLTLGI
  DSAMGGMESVITGLIDEFQLLHRHRELFTLFIVLATFLLSLFCVTNGGIYVFTLLDHFAA
  GTSILFGVLIEAIGVAWFYGVGQFSDDIQQMTGQRPSLYWRLCWKLVSPCFLLFVVVVSI
  VTFRPPHYGAYIFPDWANALGWVIATSSMAMVPIYAAYKFCSLPGSFREKLAYAIAPEKD
  RELVDRGEVRQFTLRHWLKV

• Sequence length: 620

Pathways

KEGG:

Synaptic vesicle cycle
Dopaminergic synapse
Parkinson disease
Pathways of neurodegeneration - multiple diseases
Cocaine addiction
Amphetamine addiction
Alcoholism

Reactome:

Dopamine clearance from the synaptic cleft
Na+/Cl- dependent neurotransmitter transporters
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)

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
Classic dopamine transporter deficiency syndrome	Likely pathogenic; Pathogenic	rs431905514, rs431905515, rs2477328134, rs267607068, rs267607069, rs431905504, rs1756068240	RCV000083262 RCV000083263 RCV003223526 RCV000018249 RCV000018250 RCV000022531 RCV001198035	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Parkinsonism-dystonia, infantile	Likely pathogenic; Pathogenic	rs431905514, rs2126324037, rs2126353885, rs431905504, rs1756409749	RCV002228329 RCV002036710 RCV002927690 RCV003593863 RCV001208955	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANHEDONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGLUTITION DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMORY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MILD COGNITIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nicotine dependence, protection against	protective	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARANOIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARANOID DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONISM-DYSTONIA 1, INFANTILE-ONSET	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONISM-DYSTONIA, INFANTILE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOSES, SUBSTANCE-INDUCED	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Benign; Uncertain risk allele	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SEVERE MAJOR DEPRESSION WITH PSYCHOTIC FEATURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC6A3-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tobacco addiction, susceptibility to	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	16865260		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	30026780		★☆☆☆☆ Found in Text Mining only
Age-Related Memory Disorders	Age-Related Memory Disorders	CTD_human_DG	17992686		★☆☆☆☆ Found in Text Mining only
Akinesia	Akinesia	BEFREE	29863572		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	12513948, 15193761, 15996968, 19249388, 21554332		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21743130, 25496873, 33522999, 37948982, 39610284	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32675415	Stimulate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	37628576	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31243072		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	15538967		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	30224467		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	11161240		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	22778257		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	PSYGENET_DG	18690111		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anhedonia	Anhedonia	BEFREE	29520239, 30226290		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anorexia	Anorexia	BEFREE	28228713		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	19728374, 23775054		★☆☆☆☆ Found in Text Mining only
Anosmia	Anosmia	Pubtator	28734065	Associate	★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	28582390	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	17079080, 27490263, 28214265, 30367968, 30911352, 31273436		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	19120712, 24780147, 34946924	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	17079080, 27490263, 28214265, 30367968, 30911352, 31273436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety Disorders	Anxiety Disorder	CTD_human_DG	19120712		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety Disorders	Anxiety disorder	Pubtator	34946924	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety States, Neurotic	Anxiety Disorder	CTD_human_DG	19120712		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	BEFREE	28629634		★☆☆☆☆ Found in Text Mining only
Asphyxia Neonatorum	Postnatal asphyxia	BEFREE	10925148		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29668889, 31651946		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	37948982	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	12699766, 15059031, 19120712, 22034972		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	14584093, 28458039, 28757070, 7717410		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	10654656, 11923911, 14584093, 15683546, 16261167, 16309561, 16380908, 16741944, 16894395, 17403983, 17886261, 18023044, 18553640, 18559107, 18614672, 19120712, 19196467, 19288168, 19490304, 19519258, 19676101, 19805704, 20026227, 20039948, 20053379, 20091113, 20631685, 20736997, 20957668, 21207241, 21596533, 22024001, 22182296, 22562805, 22646917, 22721595, 23153115, 23255304, 23273726, 24008096, 24461309, 24780147, 24978879, 25271118, 25313507, 25747272, 26471374, 26504078, 26621748, 26746237, 26935821, 27097961, 27327562, 28234207, 28675949, 28871191, 29172706, 30033547, 30153408, 31711956, 34650206, 37104986, 37578679, 7717410, 8825631, 9790747, 9837830	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	10560028, 10889531, 11032386, 11239904, 11276403, 11378848, 11443527, 11443528, 11449401, 11803523, 11814546, 11864718, 12172219, 12377397, 12377402, 12457396, 12587848, 12619042, 12685515, 12707943, 12740596, 12898575, 14584093, 14624805, 15059031, 15211638, 15389753, 15389755, 15572278, 15578613, 15683546, 15719398, 15722958, 15724142, 15809660, 15845424, 15950014, 15993876, 16055819, 16082693, 16123773, 16165273, 16168728, 16171832, 16222334, 16261167, 16342279, 16368111, 16389200, 16402340, 16496304, 16526026, 16545000, 16585476, 16613553, 16741944, 16751296, 16760197, 16774975, 16782077, 16861140, 16919891, 17028370, 17044099, 17044101, 17157268, 17403983, 17440935, 17440978, 17464676, 17485610, 17579611, 17582621, 17671965, 17679637, 17886261, 17948872, 17979583, 18023044, 18046306, 18165969, 18174826, 18206700, 18214864, 18214865, 18331164, 18553640, 18559107, 18563707, 18591481, 18668530, 18802919, 18802924, 19025233, 19146920, 19196467, 19288168, 19409950, 19478460, 19506906, 19519258, 19576958, 19619618, 19655343, 19676101, 19715710, 19805704, 19890261, 19906444, 20026227, 20029387, 20039948, 20049490, 20053379, 20421851, 20450954, 20513229, 20593420, 20631685, 20736997, 20800641, 20957668, 21207241, 21216270, 21527290, 21595008, 21596533, 21889247, 22182296, 22514303, 22749356, 23076524, 23083021, 23153115, 23255304, 23273726, 23541676, 23588108, 23681253, 24008096, 24132904, 24332984, 24461309, 24487615, 24780147, 24813374, 24911152, 25313507, 25331903, 25555995, 25656223, 25747272, 25915480, 26073896, 26206710, 26471374, 26504078, 26746237, 26935821, 27064247, 27097961, 27327562, 27663943, 27676100, 27873141, 28115272, 28234207, 28293263, 28458039, 28557437, 28666839, 28675949, 28750831, 28757070, 28822049, 28847342, 28894302, 29171685, 29281965, 29433615, 29520239, 29559554, 29684537, 30033547, 30153408, 30413217, 30828290, 30849401, 30923918, 31306870, 31749842, 7717410, 9246671, 9549246, 9686427, 9837830, 9888856		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	12699766, 15059031, 19120712, 22034972		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	LHGDN	15940306, 16741944, 17440978		★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	19805704, 21207241, 21596533, 23255304, 24780147, 27327562, 31711956, 37104986, 9837830	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	19120712, 25313507, 26621748, 30153408, 36750796	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23979605, 24412511, 25331903, 28743598, 29027111, 29231773, 30153408, 30828290, 31094705, 31749842		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	25313507		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	25313507, 25747272, 30153408, 34650206	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	BEFREE	11161240		★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	10855623	Associate	★☆☆☆☆ Found in Text Mining only
Binge Drinking	Binge drinking	Pubtator	28278565	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	11093065, 11304827, 15768394, 15952869, 16103889, 16261167, 17042887, 17316573, 18361424, 18826446, 19647327, 21525861, 23255304, 25005251, 25313507, 25547317, 28160035, 29520059, 29656188, 31025493, 8950410, 9149327, 9433557, 9433566, 9686427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	16261167, 18614672, 19273584, 22438288, 23255304, 24936023, 25313507, 27063557, 28751646, 30153408	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	22438288, 25005251, 25019689, 25313507, 25331903		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharospasm	Blepharospasm	BEFREE	28629634		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	16623961, 19368898, 23968246, 30153408		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	25496873	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	24849661, 28323555, 32108714	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28075498		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	28349825	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	23968246, 30153408		★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	Pubtator	15069467, 19447357	Associate	★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	17314918, 19447357, 22683321		★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	BEFREE	19728374, 22683321		★☆☆☆☆ Found in Text Mining only
Camptocormia	Camptocormia	BEFREE	24614670		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35401884, 36714595	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17175058, 18563706		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26831905	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Tic Disorders	Tic Disorder	CTD_human_DG	19120712		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	23477970		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23773451		★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	24780147, 33537927	Associate	★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	27663598		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	15845424, 21525861, 31325142		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25212851, 25496873, 28520803	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	16741944, 29029252, 37948982	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32599859	Associate	★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct Disorder	BEFREE	17579368, 18197081, 18553640, 21171728		★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct disorder	Pubtator	18553640, 21171728	Associate	★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	12811592		★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	BEFREE	12811592		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26831905, 27663598		★☆☆☆☆ Found in Text Mining only
Corticobasal Degeneration	Corticobasal degeneration	Pubtator	26980757	Associate	★☆☆☆☆ Found in Text Mining only
Cri-du-Chat Syndrome	5p partial monosomy syndrome	BEFREE	30985858		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	10088054, 10581411, 15823165, 19309018, 19739106, 9024952		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delirium	Delirium	PSYGENET_DG	10088054, 15823165, 19309018, 19541436, 19739106		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delirium	Delirium	Pubtator	10581411	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delirium, Dementia, Amnestic, Cognitive Disorders	Delirium, Dementia, Amnestic, Cognitive Disorders	BEFREE	30846720		★☆☆☆☆ Found in Text Mining only
Delusional disorder	Delusional Disorder	BEFREE	9613856		★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	BEFREE	8837710		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	1320518, 23034259, 25496873, 28382589, 28991698, 30611093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	CTD_human_DG	18579413		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	Pubtator	25496873	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	17621383, 18181793, 18973248, 19368898, 20685009, 24780147, 26419600, 26991370, 28289283, 28314910, 30231066, 30367968, 31079063, 31361666, 31537790		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	19368898, 19844206, 20685009, 24780147, 25106036		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	24780147, 28278565	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	BEFREE	17980763		★☆☆☆☆ Found in Text Mining only
Developmental reading disorder	Developmental dyslexia	BEFREE	25178928		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29626177, 30193817, 31683416		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	29752303	Associate	★☆☆☆☆ Found in Text Mining only
Disruptive Behavior Disorder	Disruptive Behavior Disorder	BEFREE	17192955		★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	20736997, 22024001, 23255304, 23899625, 28278565, 32073681, 32710539, 37104986, 9837830	Associate	★☆☆☆☆ Found in Text Mining only
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	22113132, 28802938, 30444952, 30568628, 31273436		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	20960275		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	30146185		★☆☆☆☆ Found in Text Mining only
Dysequilibrium syndrome	Dysequilibrium Syndrome	BEFREE	16402340		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	14531049, 15190232, 19020294, 24018121, 27941527, 29407218, 30027399, 30316985, 31405186		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	21889247, 25178928		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysphoric mood	Mood Disorder	BEFREE	17079080		★☆☆☆☆ Found in Text Mining only
Dysthymic Disorder	Dysthymic disorder	Pubtator	18826446	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	36054588	Associate	★☆☆☆☆ Found in Text Mining only
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT	Dystonia	BEFREE	20132487		★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	20694531, 24613933, 28972153, 29983692		★☆☆☆☆ Found in Text Mining only
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)	Dystonia, dopa-responsive, with or without hyperphenylalaninemia	BEFREE	19504720		★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	17150335, 17225991, 20580759, 23963056		★☆☆☆☆ Found in Text Mining only
Early onset torsion dystonia	Dystonia	BEFREE	20132487		★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	15069467, 22683321		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	29482807		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	31330230		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	20927024, 29575277		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	38159255	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	28409750, 28922189, 31405186		★☆☆☆☆ Found in Text Mining only
Extrapyramidal Disorders	Extrapyramidal disease	BEFREE	20580759		★☆☆☆☆ Found in Text Mining only
Fahr's disease	Fahr's disease	Pubtator	28935882, 32873236	Associate	★☆☆☆☆ Found in Text Mining only
Familial Dementia	Dementia	CTD_human_DG	18579413		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	CLINVAR_DG	22279524		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	29728749		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	31692118		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	12072155		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	27413154	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease, Type 1	Gaucher Disease	BEFREE	27413154		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	10889531, 12478878, 15094788, 17171650, 17508355, 20739786, 30959252, 8725745, 8825631		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	LHGDN	17171650, 17508355		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29860315	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	22279524		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	16894395	Associate	★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hallervorden-Spatz Syndrome	Pigmentary pallidal degeneration	BEFREE	16267847		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	8837710		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	15538967		★☆☆☆☆ Found in Text Mining only
Hydrocephalus Normal Pressure	Normal pressure hydrocephalus	Pubtator	33893195	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	16741944, 24461309, 24780147, 27327562, 36054588	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperprolactinemia	Hyperprolactinemia	BEFREE	30967134		★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperproinsulinemia	Pubtator	30967134	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28055236		★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	28963530		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19653907	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	10924870		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	14681904, 23240026, 27866858, 28520803, 29526657, 29705185, 31079063, 31584466		★☆☆☆☆ Found in Text Mining only
Infantile dystonia-parkinsonism	Dystonia-Parkinsonism	Orphanet			★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	35536100	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	21112253, 27604308		★☆☆☆☆ Found in Text Mining only
Intravascular hemolysis	Intravascular Hemolysis	BEFREE	29573075		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	20960275		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	31764070		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	23477970		★☆☆☆☆ Found in Text Mining only
KUFOR-RAKEB SYNDROME	Kufor-Rakeb Syndrome	BEFREE	21060012		★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora disease	Pubtator	35962561	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	19120712	Associate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Metachromatic	Metachromatic Leukodystrophy	LHGDN	18831910		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	LHGDN	15210531		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	26980757, 27138074, 27632223, 28035426, 28130808, 28361209, 28477707, 28913731, 28990131, 29720959, 30205358, 30884365, 30980099, 31127780, 31243072, 31308115, 31423561, 31549279, 31692118, 31790878, 31840326		★☆☆☆☆ Found in Text Mining only
Lingual-Facial-Buccal Dyskinesia	Orofacial dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31068823		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28259768		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	31068823		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	1262474	Associate	★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	28031054		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	11850478, 23137414		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	16103889, 17042887		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	16103889, 17042887, 9149327		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	16103889, 17042887		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	16103889, 17042887		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	16103889, 17042887		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	16103889, 17042887		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	16103889, 17042887		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	20391341, 20558238, 21150814, 24439516, 26974654, 27108917, 29476250		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28075498		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17175058, 18563706		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	29258773		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	BEFREE	17254787		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	18361424, 19805697, 28160035, 28289283, 29656188		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory Disorders	CTD_human_DG	17992686		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	17621383, 18181793, 18973248, 19368898, 20685009, 24439516, 24780147, 26419600, 26991370, 28289283, 28314910, 30231066, 30367968, 31079063, 31361666, 31537790		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	19368898, 20685009, 24439516, 24780147, 25106036		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	11942948, 12366871, 16103889, 16261167, 17960477, 18841010, 19247849, 20170711, 21527290, 24708432, 25019689, 25331903, 26559242, 28582390, 29559554, 7717410		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28924877		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	39521843	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	12624717, 17539957, 17690944, 19772578, 20164768		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	19152006		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	25496873, 30222946, 31507022		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Minimal Brain Dysfunction	Minimal Brain Dysfunction	CTD_human_DG	12699766, 15059031, 19120712, 22034972		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	19146920, 31599465		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	17392738, 19368898, 26559242, 30367968		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	17392738, 19368898, 19708722, 9276194		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood disorder	Pubtator	23255304, 30991630	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor Tic Disorders	Motor Tic Disorders	CTD_human_DG	19120712		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	19478460, 21449012, 27544504, 28922189, 29748111, 30153144, 31774054		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	34650206	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	29149804		★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	26980757	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	34433436	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31651946		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	31683416		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	31369229		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27663598		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	19029519, 30741074, 34650206, 36835019	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	CTD_human_DG	12890883		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	BEFREE	16041244, 30824538		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	BEFREE	10924700, 11911843, 12217632, 12428729, 14698476, 21147099, 25274329, 25963949, 29380316, 31090094		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25963949	Associate	★☆☆☆☆ Found in Text Mining only
Neurocognitive Disorders	Neurocognitive Disorders	BEFREE	30846720		★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	29965988	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21713039, 28096470, 29619853, 30024721, 31320495, 31342202		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	20957647, 31749842		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	17392738, 21354244, 25001970		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17175058		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	12931138, 19142409, 20685009, 22438288		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12490667, 16272960, 25687785		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	12490667, 19183461, 23653272, 27228958, 30991630, 36714595	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity Abdominal	Obesity	Pubtator	29998543	Associate	★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	18094849, 18446263, 22454241, 31325142		★☆☆☆☆ Found in Text Mining only
Oppositional Defiant Disorder	Oppositional Defiant Disorder	BEFREE	17192955, 17579368		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	25271118	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	19183461	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19183461	Associate	★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	10898909		★☆☆☆☆ Found in Text Mining only
Paranoia	Paranoia	BEFREE	7865100		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paranoia	Paranoia	CTD_human_DG	8825631		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paranoid Disorders	Paranoia	Pubtator	8825631, 9790747	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	10072302, 10762168, 10983695, 11911843, 12210886, 12422069, 12465073, 12686408, 12815660, 14531049, 14622169, 14732464, 15086525, 15190232, 15480838, 15538967, 15785866, 15845424, 16041244, 16406146, 16671078, 16816977, 16963468, 17017535, 17625105, 18057916, 18327668, 18973248, 19590691, 20356854, 20460591, 21799208, 22001994, 22004534, 22113132, 22508279, 23625061, 24211691, 24633632, 24993959, 25150291, 25182701, 25212851, 25805645, 26220939, 26284320, 26306001, 26686514, 26980757, 27519465, 27544223, 27775946, 27856628, 27871051, 27893588, 27914043, 27941527, 28038352, 28106567, 28131191, 28180961, 28259768, 28283599, 28320195, 28336296, 28358829, 28406934, 28477690, 28520803, 28537985, 28595287, 28622913, 28632695, 28662820, 28679601, 28689103, 28706191, 28711192, 28769862, 28782870, 28802938, 28834102, 28844804, 28849633, 28899020, 28928221, 28951497, 28971009, 28991698, 29059491, 29063467, 29075830, 29078029, 29089770, 29112012, 29157745, 29165839, 29406893, 29407218, 29436751, 29438044, 29449184, 29486515, 29526657, 29551693, 29572948, 29626177, 29748111, 29776864, 29801899, 29804474, 29848975, 29868437, 29881367, 29925486, 29948246, 30004964, 30080748, 30083784, 30103971, 30125297, 30146185, 30179648, 30180045, 30195197, 30230118, 30231066, 30236547, 30316985, 30353564, 30403197, 30415448, 30417317, 30504429, 30564614, 30589477, 30611093, 30618224, 30722964, 30741074, 30796009, 30828290, 30847821, 30884365, 30903695, 30918068, 30930768, 30958313, 30979821, 31024233, 31056699, 31091502, 31102003, 31158314, 31229470, 31234224, 31243072, 31273436, 31278861, 31306141, 31324555, 31342202, 31377233, 31405186, 31446637, 31450510, 31490312, 31565212, 31568269, 31584466, 31678032, 31707374, 31776633, 8154880, 9011752, 9380041, 9380062, 9399211, 9409349, 9629849, 9703165, 9987713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	10762168, 10983695, 15086525, 17470495, 19590691, 19617340, 21112253, 22001994, 23899625, 25212851, 25634433, 26220939, 26980757, 28406934, 28631404, 28679601, 28734065, 30103971, 30381367, 30741074, 30958313, 32022467, 32073681, 32608210, 33791366, 33893195, 33962918, 40183420, 40404934, 9703165	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	CTD_human_DG	16112329, 16963468, 19590691, 9763484		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	16671078, 16963468, 17692827		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	38447455	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder)	Parkinson disease	BEFREE	29983692		★☆☆☆☆ Found in Text Mining only
Parkinson Disease 6, Autosomal Recessive Early-Onset	Parkinson disease	BEFREE	15785866		★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	1353885, 21112253, 27413154, 28336296, 28935882, 29877269, 30958313, 33893195, 34507444, 36054588	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	11853020, 17960343, 18502656, 30103971, 31234224		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	14531049, 16081470, 16380622, 17017535, 19380697, 19478460, 20694531, 21060012, 21449012, 24265532, 24484619, 24613933, 24911152, 26203861, 26980757, 27413154, 27544504, 27813429, 28259768, 28336296, 28361209, 28382589, 28477690, 28511263, 28629634, 28632692, 28844804, 28849633, 28922189, 28935882, 28972153, 29112012, 29133699, 29157745, 29546633, 29728749, 29748111, 30072245, 30143836, 30153144, 30222946, 30409254, 30443684, 30468634, 30580909, 30611093, 30687897, 30689072, 30958313, 30980099, 31058689, 31140153, 31279747, 31342202, 31361666, 31374410, 31405186, 31692118, 31773419, 31774054, 31776633, 9399211, 9629849		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson disease	Pubtator	24613933	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinsonism-Dystonia, Infantile	Parkinsonism-dystonia	BEFREE	19478460, 19504720, 21112253, 24613933, 27481941, 27519790, 27555326, 28417953, 29258773, 30828290		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Parkinsonism-Dystonia, Infantile	Parkinsonism-dystonia	CTD_human_DG	27555326		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Parkinsonism-Dystonia, Infantile	Parkinsonism-dystonia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Parkinsonism-Dystonia, Infantile	Parkinsonism-dystonia	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Parkinsonism-Dystonia, Infantile	Parkinsonism-dystonia	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PARKINSONISM-DYSTONIA, INFANTILE, 1	Parkinsonism-Dystonia	UNIPROT_DG	19478460		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONISM-DYSTONIA, INFANTILE, 1	Parkinsonism-Dystonia	GENOMICS_ENGLAND_DG	19478460, 21112253, 24613933		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONISM-DYSTONIA, INFANTILE, 1	Parkinsonism-Dystonia	CLINVAR_DG	22279524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	23979605, 31749842		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	30026780		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	12232785, 19960520, 20074437, 20554017, 21491204, 22745713, 23647133, 26986136, 31291231		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	1320518, 23034259, 25496873, 28382589, 28991698, 30611093		★☆☆☆☆ Found in Text Mining only
Primary familial brain calcification	Brain Calcification	BEFREE	28935882		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	10534244, 26980757, 27856628, 28131191, 29157745, 29728749, 30979821		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	12931138, 19142409, 20685009, 22438288		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	19142409, 23861813	Associate	★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	CLINVAR_DG	22279524		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26831905		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	23137414		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11104840, 14681904, 15274029, 15380858, 15567077, 15608954, 15952869, 17979508, 18553389, 19508883, 19666577, 19766158, 19879111, 19884604, 20041956, 20580759, 20957647, 21049181, 22366190, 22438288, 23065263, 23240026, 23732879, 24086483, 25019689, 26559242, 26707863, 28027110, 28094812, 28416295, 28454051, 28454982, 30024721, 30179648, 30967134, 31440993, 7485241, 7802105, 8047618, 8406521, 8771214, 8794507, 9034007, 9276194, 9342193, 9564684		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	CTD_human_DG	16762269		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	LHGDN	16783497, 18045777, 18831910		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	Pubtator	18553389, 19273584, 22438288, 36641432	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	Pubtator	24936023	Inhibit	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia and related disorders	Schizophrenia	BEFREE	7802105, 9342193		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG	22279524		★☆☆☆☆ Found in Text Mining only
Seasonal Affective Disorder	Seasonal Affective Disorder	BEFREE	22350963		★☆☆☆☆ Found in Text Mining only
Secondary Parkinson Disease	Parkinson disease	BEFREE	31774054		★☆☆☆☆ Found in Text Mining only
Senile Paranoid Dementia	Senile Paranoid Dementia	CTD_human_DG	18579413		★☆☆☆☆ Found in Text Mining only
Severe major depression with psychotic features	Mental Depression With Psychotic Features	BEFREE	7802105		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe major depression with psychotic features	Mental Depression With Psychotic Features	PSYGENET_DG	7802105		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short Sleeper Syndrome	Short Sleeper Syndromes	CTD_human_DG	24403155		★☆☆☆☆ Found in Text Mining only
Shwachman syndrome	Shwachman Syndrome	BEFREE	23239620		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	28393838, 29029252	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	20685009, 23137414		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	CTD_human_DG	24403155		★☆☆☆☆ Found in Text Mining only
Sleep Wake Disorders	Sleep Wake Disorders	CTD_human_DG	24403155		★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	CLINVAR_DG	22279524		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	BEFREE	17923635, 28844804		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	BEFREE	27544504		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	29575277		★☆☆☆☆ Found in Text Mining only
Stress Disorders, Traumatic	Stress Disorder	LHGDN	12232785		★☆☆☆☆ Found in Text Mining only
Testicular regression syndrome	Testicular regression syndrome	BEFREE	24680725		★☆☆☆☆ Found in Text Mining only
THANATOPHORIC DYSPLASIA, TYPE I (disorder)	Thanatophoric Dysplasia	BEFREE	28358829		★☆☆☆☆ Found in Text Mining only
Tic disorder	Tic Disorder	CTD_human_DG	19120712		★☆☆☆☆ Found in Text Mining only
Tic Disorders, Vocal	Tic disorder	CTD_human_DG	19120712		★☆☆☆☆ Found in Text Mining only
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	28582390	Associate	★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	27883923, 8825631	Associate	★☆☆☆☆ Found in Text Mining only
Transient Tic Disorder	Transient Tic Disorder	CTD_human_DG	19120712		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30139837		★☆☆☆☆ Found in Text Mining only
Type II Mucolipidosis	Mucolipidosis	BEFREE	30568628		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	20391341, 21150814, 26974654, 29476250		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	28963530		★☆☆☆☆ Found in Text Mining only
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	BEFREE	20108380		★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	BEFREE	28594769		★☆☆☆☆ Found in Text Mining only