SLC18A2 (solute carrier family 18 member A2)

Gene

• Entrez ID: 6571
• Gene name: Solute carrier family 18 member A2
• Gene symbol: SLC18A2
• Synonyms (NCBI Gene): PKDYS2, SVAT, SVMT, VAT2, VMAT2
• Chromosome: 10
• Chromosome location: 10q25.3
• Summary: This gene encodes an transmembrane protein that functions as an ATP-dependent transporter of monoamines, such as dopamine, norepinephrine, serotonin, and histamine. This protein transports amine neurotransmitters into synaptic vesicles. Polymorphisms in t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs762879329	C>-,CC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs767337086	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1293033867	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1392638187	C>T	Pathogenic	Coding sequence variant, missense variant
rs1431337923	AG>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1589981178	C>G	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT530883	hsa-miR-6507-5p	PAR-CLIP	22012620
MIRT530882	hsa-miR-431-5p	PAR-CLIP	22012620
MIRT530881	hsa-miR-4639-5p	PAR-CLIP	22012620
MIRT530883	hsa-miR-6507-5p	PAR-CLIP	22012620
MIRT530882	hsa-miR-431-5p	PAR-CLIP	22012620
MIRT530881	hsa-miR-4639-5p	PAR-CLIP	22012620
MIRT1353591	hsa-miR-1238	CLIP-seq
MIRT1353592	hsa-miR-1255a	CLIP-seq
MIRT1353593	hsa-miR-1255b	CLIP-seq
MIRT1353594	hsa-miR-1299	CLIP-seq
MIRT1353595	hsa-miR-141	CLIP-seq
MIRT1353596	hsa-miR-181a	CLIP-seq
MIRT1353597	hsa-miR-181b	CLIP-seq
MIRT1353598	hsa-miR-181c	CLIP-seq
MIRT1353599	hsa-miR-181d	CLIP-seq
MIRT1353600	hsa-miR-200a	CLIP-seq
MIRT1353601	hsa-miR-214	CLIP-seq
MIRT1353602	hsa-miR-219-1-3p	CLIP-seq
MIRT1353603	hsa-miR-2355-5p	CLIP-seq
MIRT1353604	hsa-miR-3126-5p	CLIP-seq
MIRT1353605	hsa-miR-3143	CLIP-seq
MIRT1353606	hsa-miR-3187-3p	CLIP-seq
MIRT1353607	hsa-miR-3617	CLIP-seq
MIRT1353608	hsa-miR-3619-5p	CLIP-seq
MIRT1353609	hsa-miR-3679-3p	CLIP-seq
MIRT1353610	hsa-miR-3926	CLIP-seq
MIRT1353611	hsa-miR-410	CLIP-seq
MIRT1353612	hsa-miR-4262	CLIP-seq
MIRT1353613	hsa-miR-4276	CLIP-seq
MIRT1353614	hsa-miR-4277	CLIP-seq
MIRT1353615	hsa-miR-4302	CLIP-seq
MIRT1353616	hsa-miR-4435	CLIP-seq
MIRT1353617	hsa-miR-4446-5p	CLIP-seq
MIRT1353618	hsa-miR-4480	CLIP-seq
MIRT1353619	hsa-miR-4690-5p	CLIP-seq
MIRT1353620	hsa-miR-4691-5p	CLIP-seq
MIRT1353621	hsa-miR-4693-3p	CLIP-seq
MIRT1353622	hsa-miR-4701-5p	CLIP-seq
MIRT1353623	hsa-miR-4731-3p	CLIP-seq
MIRT1353624	hsa-miR-4771	CLIP-seq
MIRT1353625	hsa-miR-4782-5p	CLIP-seq
MIRT1353626	hsa-miR-4801	CLIP-seq
MIRT1353627	hsa-miR-499a-5p	CLIP-seq
MIRT1353628	hsa-miR-516b	CLIP-seq
MIRT1353629	hsa-miR-520a-5p	CLIP-seq
MIRT1353630	hsa-miR-525-5p	CLIP-seq
MIRT1353631	hsa-miR-543	CLIP-seq
MIRT1353632	hsa-miR-548s	CLIP-seq
MIRT1353633	hsa-miR-571	CLIP-seq
MIRT1353634	hsa-miR-588	CLIP-seq
MIRT1353635	hsa-miR-597	CLIP-seq
MIRT1353636	hsa-miR-641	CLIP-seq
MIRT1353637	hsa-miR-668	CLIP-seq
MIRT1353638	hsa-miR-761	CLIP-seq
MIRT2104639	hsa-miR-124	CLIP-seq
MIRT1353627	hsa-miR-499a-5p	CLIP-seq
MIRT2104640	hsa-miR-506	CLIP-seq
MIRT2104641	hsa-miR-548an	CLIP-seq
MIRT2104642	hsa-miR-567	CLIP-seq
MIRT2329119	hsa-miR-132	CLIP-seq
MIRT2329120	hsa-miR-144	CLIP-seq
MIRT2329121	hsa-miR-212	CLIP-seq
MIRT1353607	hsa-miR-3617	CLIP-seq
MIRT1353636	hsa-miR-641	CLIP-seq
MIRT2459514	hsa-miR-1205	CLIP-seq
MIRT2459515	hsa-miR-1286	CLIP-seq
MIRT2329120	hsa-miR-144	CLIP-seq
MIRT2459516	hsa-miR-146a	CLIP-seq
MIRT2459517	hsa-miR-146b-5p	CLIP-seq
MIRT2459518	hsa-miR-2355-3p	CLIP-seq
MIRT2459519	hsa-miR-3149	CLIP-seq
MIRT2459520	hsa-miR-3655	CLIP-seq
MIRT2459521	hsa-miR-3909	CLIP-seq
MIRT2459522	hsa-miR-3912	CLIP-seq
MIRT2459523	hsa-miR-3925-5p	CLIP-seq
MIRT2459524	hsa-miR-4274	CLIP-seq
MIRT2459525	hsa-miR-4317	CLIP-seq
MIRT2459526	hsa-miR-4418	CLIP-seq
MIRT2459527	hsa-miR-4457	CLIP-seq
MIRT2459528	hsa-miR-4519	CLIP-seq
MIRT2459529	hsa-miR-4524	CLIP-seq
MIRT2459530	hsa-miR-4645-3p	CLIP-seq
MIRT2459531	hsa-miR-4659a-3p	CLIP-seq
MIRT2459532	hsa-miR-4659b-3p	CLIP-seq
MIRT2459533	hsa-miR-4661-5p	CLIP-seq
MIRT2459534	hsa-miR-4666-5p	CLIP-seq
MIRT2459535	hsa-miR-4712-5p	CLIP-seq
MIRT2459536	hsa-miR-4722-5p	CLIP-seq
MIRT1353623	hsa-miR-4731-3p	CLIP-seq
MIRT2459537	hsa-miR-4742-3p	CLIP-seq
MIRT2459538	hsa-miR-4777-3p	CLIP-seq
MIRT1353626	hsa-miR-4801	CLIP-seq
MIRT2459539	hsa-miR-4803	CLIP-seq
MIRT2459540	hsa-miR-509-3-5p	CLIP-seq
MIRT2459541	hsa-miR-509-5p	CLIP-seq
MIRT2459542	hsa-miR-513b	CLIP-seq
MIRT2459543	hsa-miR-548ag	CLIP-seq
MIRT2459544	hsa-miR-548ai	CLIP-seq
MIRT2459545	hsa-miR-556-3p	CLIP-seq
MIRT2459546	hsa-miR-561	CLIP-seq
MIRT2459547	hsa-miR-578	CLIP-seq
MIRT2459548	hsa-miR-642b	CLIP-seq
MIRT2459549	hsa-miR-664	CLIP-seq
MIRT2459550	hsa-miR-676	CLIP-seq
MIRT2459551	hsa-miR-770-5p	CLIP-seq
MIRT2329120	hsa-miR-144	CLIP-seq
MIRT2459516	hsa-miR-146a	CLIP-seq
MIRT2459517	hsa-miR-146b-5p	CLIP-seq
MIRT1353596	hsa-miR-181a	CLIP-seq
MIRT1353597	hsa-miR-181b	CLIP-seq
MIRT1353598	hsa-miR-181c	CLIP-seq
MIRT1353599	hsa-miR-181d	CLIP-seq
MIRT2459518	hsa-miR-2355-3p	CLIP-seq
MIRT1353605	hsa-miR-3143	CLIP-seq
MIRT2623529	hsa-miR-3153	CLIP-seq
MIRT1353607	hsa-miR-3617	CLIP-seq
MIRT2459520	hsa-miR-3655	CLIP-seq
MIRT2459521	hsa-miR-3909	CLIP-seq
MIRT2459522	hsa-miR-3912	CLIP-seq
MIRT2459523	hsa-miR-3925-5p	CLIP-seq
MIRT1353612	hsa-miR-4262	CLIP-seq
MIRT2459530	hsa-miR-4645-3p	CLIP-seq
MIRT2459531	hsa-miR-4659a-3p	CLIP-seq
MIRT2459532	hsa-miR-4659b-3p	CLIP-seq
MIRT2459533	hsa-miR-4661-5p	CLIP-seq
MIRT2459534	hsa-miR-4666-5p	CLIP-seq
MIRT2459535	hsa-miR-4712-5p	CLIP-seq
MIRT1353623	hsa-miR-4731-3p	CLIP-seq
MIRT1353626	hsa-miR-4801	CLIP-seq
MIRT1353631	hsa-miR-543	CLIP-seq
MIRT2459543	hsa-miR-548ag	CLIP-seq
MIRT2459544	hsa-miR-548ai	CLIP-seq
MIRT2459547	hsa-miR-578	CLIP-seq
MIRT2623530	hsa-miR-586	CLIP-seq
MIRT2623531	hsa-miR-606	CLIP-seq
MIRT1353636	hsa-miR-641	CLIP-seq
MIRT2459548	hsa-miR-642b	CLIP-seq
MIRT2459550	hsa-miR-676	CLIP-seq
MIRT2459551	hsa-miR-770-5p	CLIP-seq
MIRT2623532	hsa-miR-802	CLIP-seq
MIRT2329120	hsa-miR-144	CLIP-seq
MIRT2459516	hsa-miR-146a	CLIP-seq
MIRT2459517	hsa-miR-146b-5p	CLIP-seq
MIRT2459518	hsa-miR-2355-3p	CLIP-seq
MIRT1353607	hsa-miR-3617	CLIP-seq
MIRT2459520	hsa-miR-3655	CLIP-seq
MIRT2459521	hsa-miR-3909	CLIP-seq
MIRT2459522	hsa-miR-3912	CLIP-seq
MIRT2459523	hsa-miR-3925-5p	CLIP-seq
MIRT2459530	hsa-miR-4645-3p	CLIP-seq
MIRT2459531	hsa-miR-4659a-3p	CLIP-seq
MIRT2459532	hsa-miR-4659b-3p	CLIP-seq
MIRT2459533	hsa-miR-4661-5p	CLIP-seq
MIRT2459534	hsa-miR-4666-5p	CLIP-seq
MIRT2459535	hsa-miR-4712-5p	CLIP-seq
MIRT1353623	hsa-miR-4731-3p	CLIP-seq
MIRT1353626	hsa-miR-4801	CLIP-seq
MIRT2459543	hsa-miR-548ag	CLIP-seq
MIRT2459544	hsa-miR-548ai	CLIP-seq
MIRT2459547	hsa-miR-578	CLIP-seq
MIRT2623530	hsa-miR-586	CLIP-seq
MIRT2623531	hsa-miR-606	CLIP-seq
MIRT1353636	hsa-miR-641	CLIP-seq
MIRT2459548	hsa-miR-642b	CLIP-seq
MIRT2459550	hsa-miR-676	CLIP-seq
MIRT2459551	hsa-miR-770-5p	CLIP-seq
MIRT2623532	hsa-miR-802	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001975	Process	Response to amphetamine	IEA
GO:0002552	Process	Serotonin secretion by mast cell	IEA
GO:0002553	Process	Histamine secretion by mast cell	IEA
GO:0005335	Function	Serotonin:sodium:chloride symporter activity	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005813	Component	Centrosome	IDA
GO:0005886	Component	Plasma membrane	TAS	8095030
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006836	Process	Neurotransmitter transport	TAS
GO:0006837	Process	Serotonin transport	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	15217342
GO:0007626	Process	Locomotory behavior	IEA
GO:0008021	Component	Synaptic vesicle	TAS	21563316
GO:0008504	Function	Monoamine transmembrane transporter activity	TAS	8095030
GO:0009636	Process	Response to toxic substance	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0015311	Function	Monoamine:proton antiporter activity	IDA	8643547, 8860238, 23363473
GO:0015842	Process	Aminergic neurotransmitter loading into synaptic vesicle	IBA
GO:0015844	Process	Monoamine transport	TAS	8095030
GO:0015872	Process	Dopamine transport	IEA
GO:0015872	Process	Dopamine transport	TAS	21563316
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8095030
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0030667	Component	Secretory granule membrane	ISS
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043195	Component	Terminal bouton	IBA
GO:0045202	Component	Synapse	IEA
GO:0051610	Process	Serotonin uptake	IDA	8643547, 23363473
GO:0051615	Process	Histamine uptake	IDA	8860238
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070083	Component	Clathrin-sculpted monoamine transport vesicle membrane	IEA
GO:0070083	Component	Clathrin-sculpted monoamine transport vesicle membrane	TAS
GO:0098691	Component	Dopaminergic synapse	IEA
GO:0098700	Process	Neurotransmitter loading into synaptic vesicle	IEA
GO:0098700	Process	Neurotransmitter loading into synaptic vesicle	NAS	24252804
GO:0098700	Process	Neurotransmitter loading into synaptic vesicle	TAS	21563316
GO:0099123	Process	Somato-dendritic dopamine secretion	ISS
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	NAS	24252804

Other IDs

• MIM: 193001
• HGNC: 10935
• e!Ensembl: ENSG00000165646

Protein

• UniProt ID: Q05940
• Protein name: Synaptic vesicular amine transporter (Solute carrier family 18 member 2) (Vesicular amine transporter 2) (VAT2) (Vesicular monoamine transporter 2)
• Protein function: Electrogenic antiporter that exchanges one cationic monoamine with two intravesicular protons across the membrane of secretory and synaptic vesicles. Uses the electrochemical proton gradient established by the V-type proton-pump ATPase to accumu
• PDB: 8JSW, 8JSX, 8JT5, 8JT9, 8JTA, 8JTB, 8JTC, 8T69, 8T6A, 8T6B, 8THR, 8UCJ, 8UCK, 8UCL, 8UCM, 8UCN, 8UCO, 8UCP, 8WLJ, 8WLK, 8WLL, 8WLM, 8WRD, 8WRE, 8WVG, 8X3K, 8XO9, 8XOA, 8XOB, 9KQ8, 9KQA, 9KQE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07690	MFS_1	22 → 422	Major Facilitator Superfamily	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in neuronal and neuroendocrine tissues. Detected in central and peripheral nervous system in particular in axonal and dendritic processes in dopaminergic cells of substantia nigra, histaminergic neuronal cell bodies of substa
• Sequence:

  MALSELALVRWLQESRRSRKLILFIVFLALLLDNMLLTVVVPIIPSYLYSIKHEKNATEI
  QTARPVHTASISDSFQSIFSYYDNSTMVTGNATRDLTLHQTATQHMVTNASAVPSDCPSE
  DKDLLNENVQVGLLFASKATVQLITNPFIGLLTNRIGYPIPIFAGFCIMFVSTIMFAFSS
  SYAFLLIARSLQGIGSSCSSVAGMGMLASVYTDDEERGNVMGIALGGLAMGVLVGPPFGS
  VLYEFVGKTAPFLVLAALVLLDGAIQLFVLQPSRVQPESQKGTPLTTLLKDPYILIAAGS
  ICFANMGIAMLEPALPIWMMETMCSRKWQLGVAFLPASISYLIGTNIFGILAHKMGRWLC
  ALLGMIIVGVSILCIPFAKNIYGLIAPNFGVGFAIGMVDSSMMPIMGYLVDLRHVSVYGS
  VYAIADVAFCMGYAIGPSAGGAIAKAIGFPWLMTIIGIIDILFAPLCFFLRSPPAKEEKM
  AILMDHNCPIKTKMYTQNNIQSYPIGEDEESESD

• Sequence length: 514

Pathways

KEGG:

Synaptic vesicle cycle
Serotonergic synapse
Dopaminergic synapse
Parkinson disease
Cocaine addiction
Amphetamine addiction
Alcoholism

Reactome:

Serotonin Neurotransmitter Release Cycle
Norepinephrine Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle
Na+/Cl- dependent neurotransmitter transporters

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
Abnormal brain morphology	Likely pathogenic	rs762879329	RCV000454269	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal dense granule content	Likely pathogenic; Pathogenic	rs1589981178	RCV001003525	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal dense granules	Likely pathogenic; Pathogenic	rs1589981178	RCV001003525	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brain dopamine-serotonin vesicular transport disease	Pathogenic; Likely pathogenic	rs1265323526, rs2493529639, rs1392638187, rs1589981178	RCV004577023 RCV004577040 RCV004576961 RCV004576976	★★★★☆ 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
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	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
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE, SECONDARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONISM-DYSTONIA 2, INFANTILE-ONSET	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONISM-DYSTONIA, INFANTILE, 2	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECONDARY PARKINSON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MAJOR DEPRESSION WITH PSYCHOTIC FEATURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC18A2-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	19228741		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	20371665		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	28477711		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	15048644, 26861143		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	15048644, 26861143		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29374517		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Juvenile Parkinson Disease	Parkinson Disease	CTD_human_DG	16269145		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Parkinsonism	Parkinsonian disease	CTD_human_DG	16269145		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	CTD_human_DG	16269145		★☆☆☆☆ Found in Text Mining only
Barakat syndrome	Hypoparathyroidism-deafness-renal disease syndrome	BEFREE	10802780		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	16936705, 17427184		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	16936705, 17427184, 18249496		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	LHGDN	17427184		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	16936705		★☆☆☆☆ Found in Text Mining only
Brain dopamine-serotonin vesicular transport disease	Brain Dopamine-Serotonin Vesicular Transport Disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brain dopamine-serotonin vesicular transport disease	Brain Dopamine-Serotonin Vesicular Transport Disease	BEFREE	26497564		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brain Injuries Traumatic	Brain injuries	Pubtator	26828714	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	16936705		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30194079		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	23363473	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	26828714	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	16806099, 18329002, 18797399, 19468717, 23697793		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	17018806, 18797399, 19468717, 23697793, 30026780, 31377233		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	24525708	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	23363473	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	17665159, 26370678		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	40298873	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17665159, 26370678		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	23221614	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29468404		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29721633		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	29983692		★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	27272046		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23504951		★☆☆☆☆ Found in Text Mining only
Familial Juvenile Parkinsonism	Parkinsonian disease	CTD_human_DG	16269145		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	28477711		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33806345	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	10802780, 29080203, 29996061		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lingual-Facial-Buccal Dyskinesia	Orofacial dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28213878		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	11310586		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	29983692		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	24525708, 28408293		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30194079		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19228741, 26905753		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19228741, 26905753, 30194079		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	16806099, 18329002, 18797399, 19468717, 23697793		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	17018806, 18797399, 19468717, 23697793, 30026780, 31377233		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	28476685		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	12505801		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	23363473	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	23363473, 29338466		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	23363473	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	LHGDN	16189177		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11159212, 19228741, 21705949, 23184910, 25881691		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	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
Neuroblastoma	Neuroblastoma	Pubtator	26338179, 33465163, 37541765, 37885116	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	31317476		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	25256242, 28477711		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	16517981, 19050963		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	27987181		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	20371665, 22209341		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	11099463, 15475732, 15850588, 16339215, 18329002, 20665056, 23369548, 23786406, 25220836, 26961748, 27137201, 28257461, 28477711, 28963508, 29165839, 29337277, 30375444, 30471418, 31053531, 31091502, 31205154, 31377233, 31732566, 9011752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	CTD_human_DG	16112329		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	16339215, 16386370, 17652604		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	16339215, 23369548, 26961748, 27137201, 28336296, 33791366, 38272954	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder)	Parkinson disease	BEFREE	29983692		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	CTD_human_DG	16269145		★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	23363473	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	31613384		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	CTD_human_DG	16269145		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	BEFREE	16339215, 28490469, 30468634		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson disease	Pubtator	30446576	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonism, Juvenile	Parkinsonian disease	CTD_human_DG	16269145		★☆☆☆☆ Found in Text Mining only
PARKINSONISM-DYSTONIA, INFANTILE, 2	Parkinsonism-Dystonia	ORPHANET_DG	23363473		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONISM-DYSTONIA, INFANTILE, 2	Parkinsonism-Dystonia	UNIPROT_DG	23363473		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pheochromocytoma	Pheochromocytoma	BEFREE	20371665		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	27354380		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	24525708, 27775175, 29520171		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19228741, 26905753		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19228741, 28084441	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26905753	Inhibit	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	22532702		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	22532702	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ramsay Hunt Paralysis Syndrome	Ramsay Hunt Paralysis Syndrome	CTD_human_DG	16269145		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11443533, 16936705, 17427184, 18451639, 23932573, 28094812, 30194079, 8825897		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	16139173, 17427184, 18045777		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18451639, 20815037, 23932573		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	23932573	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia and related disorders	Schizophrenia	BEFREE	8825897		★☆☆☆☆ Found in Text Mining only
Severe major depression with psychotic features	Mental Depression With Psychotic Features	BEFREE	8825897		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe major depression with psychotic features	Mental Depression With Psychotic Features	PSYGENET_DG	8825897		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	BEFREE	16699769		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26715806	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	24525708, 28408293		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	30311774		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	22572099		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	22572099		★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	LHGDN	16189177		★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	BEFREE	16699769		★☆☆☆☆ Found in Text Mining only