Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	3356
Gene name	5-hydroxytryptamine receptor 2A
Gene symbol	HTR2A
Synonyms (NCBI Gene)	5-HT2AHTR2
Chromosome	13
Chromosome location	13q14.2
Summary	This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepres

SNP ID	Visualize variation	Clinical significance	Consequence
rs7997012	A>C,G,T	Drug-response, benign	Intron variant

105 Show/Hide all (105)

miRTarBase ID	miRNA	Experiments	Reference
MIRT450850	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT450849	hsa-miR-4251	PAR-CLIP	22100165
MIRT450848	hsa-miR-4329	PAR-CLIP	22100165
MIRT450847	hsa-miR-6761-5p	PAR-CLIP	22100165
MIRT450846	hsa-miR-4303	PAR-CLIP	22100165
MIRT450845	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT450850	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT450849	hsa-miR-4251	PAR-CLIP	22100165
MIRT450848	hsa-miR-4329	PAR-CLIP	22100165
MIRT450847	hsa-miR-6761-5p	PAR-CLIP	22100165
MIRT450846	hsa-miR-4303	PAR-CLIP	22100165
MIRT450845	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT1057200	hsa-miR-1202	CLIP-seq
MIRT1057201	hsa-miR-1257	CLIP-seq
MIRT1057202	hsa-miR-2964a-5p	CLIP-seq
MIRT1057203	hsa-miR-3117-3p	CLIP-seq
MIRT1057204	hsa-miR-3119	CLIP-seq
MIRT1057205	hsa-miR-3169	CLIP-seq
MIRT1057206	hsa-miR-3194-5p	CLIP-seq
MIRT1057207	hsa-miR-34a	CLIP-seq
MIRT1057208	hsa-miR-34c-5p	CLIP-seq
MIRT1057209	hsa-miR-3611	CLIP-seq
MIRT1057210	hsa-miR-3650	CLIP-seq
MIRT1057211	hsa-miR-3677-5p	CLIP-seq
MIRT1057212	hsa-miR-3972	CLIP-seq
MIRT1057213	hsa-miR-4422	CLIP-seq
MIRT1057214	hsa-miR-4460	CLIP-seq
MIRT1057215	hsa-miR-449a	CLIP-seq
MIRT1057216	hsa-miR-449b	CLIP-seq
MIRT1057217	hsa-miR-4727-3p	CLIP-seq
MIRT1057218	hsa-miR-4756-3p	CLIP-seq
MIRT1057219	hsa-miR-4759	CLIP-seq
MIRT1057220	hsa-miR-522	CLIP-seq
MIRT1057221	hsa-miR-676	CLIP-seq
MIRT1057222	hsa-miR-759	CLIP-seq
MIRT2013073	hsa-miR-4698	CLIP-seq
MIRT2245360	hsa-miR-1321	CLIP-seq
MIRT2245361	hsa-miR-140-3p	CLIP-seq
MIRT2245362	hsa-miR-147	CLIP-seq
MIRT2245363	hsa-miR-3137	CLIP-seq
MIRT2245364	hsa-miR-331-3p	CLIP-seq
MIRT2245365	hsa-miR-3649	CLIP-seq
MIRT2245366	hsa-miR-4270	CLIP-seq
MIRT2245367	hsa-miR-4441	CLIP-seq
MIRT2245368	hsa-miR-4739	CLIP-seq
MIRT2245369	hsa-miR-4756-5p	CLIP-seq
MIRT2548588	hsa-miR-1303	CLIP-seq
MIRT2548589	hsa-miR-1322	CLIP-seq
MIRT2548590	hsa-miR-219-5p	CLIP-seq
MIRT2548591	hsa-miR-27a	CLIP-seq
MIRT2548592	hsa-miR-27b	CLIP-seq
MIRT2548593	hsa-miR-302f	CLIP-seq
MIRT2548594	hsa-miR-3120-3p	CLIP-seq
MIRT2548595	hsa-miR-3123	CLIP-seq
MIRT2548596	hsa-miR-3190	CLIP-seq
MIRT2548597	hsa-miR-371b-5p	CLIP-seq
MIRT2548598	hsa-miR-3925-5p	CLIP-seq
MIRT2548599	hsa-miR-4445	CLIP-seq
MIRT2548600	hsa-miR-4473	CLIP-seq
MIRT2548601	hsa-miR-4699-3p	CLIP-seq
MIRT2548602	hsa-miR-4752	CLIP-seq
MIRT2548603	hsa-miR-4782-3p	CLIP-seq
MIRT2548604	hsa-miR-4790-3p	CLIP-seq
MIRT2548605	hsa-miR-499-3p	CLIP-seq
MIRT2548606	hsa-miR-499a-3p	CLIP-seq
MIRT2548607	hsa-miR-508-3p	CLIP-seq
MIRT2548608	hsa-miR-512-3p	CLIP-seq
MIRT2548609	hsa-miR-513a-5p	CLIP-seq
MIRT2548610	hsa-miR-520f	CLIP-seq
MIRT2548611	hsa-miR-642b	CLIP-seq
MIRT2548612	hsa-miR-767-3p	CLIP-seq
MIRT2548613	hsa-miR-875-5p	CLIP-seq
MIRT2548614	hsa-miR-935	CLIP-seq
MIRT2682485	hsa-miR-1306	CLIP-seq
MIRT2548589	hsa-miR-1322	CLIP-seq
MIRT2682486	hsa-miR-1827	CLIP-seq
MIRT2548590	hsa-miR-219-5p	CLIP-seq
MIRT2548591	hsa-miR-27a	CLIP-seq
MIRT2548592	hsa-miR-27b	CLIP-seq
MIRT2548594	hsa-miR-3120-3p	CLIP-seq
MIRT2682487	hsa-miR-3163	CLIP-seq
MIRT2548596	hsa-miR-3190	CLIP-seq
MIRT2682488	hsa-miR-3662	CLIP-seq
MIRT2548597	hsa-miR-371b-5p	CLIP-seq
MIRT2682489	hsa-miR-4436b-5p	CLIP-seq
MIRT2548599	hsa-miR-4445	CLIP-seq
MIRT2548600	hsa-miR-4473	CLIP-seq
MIRT2548601	hsa-miR-4699-3p	CLIP-seq
MIRT2682490	hsa-miR-4735-5p	CLIP-seq
MIRT2548602	hsa-miR-4752	CLIP-seq
MIRT2682491	hsa-miR-4775	CLIP-seq
MIRT2548603	hsa-miR-4782-3p	CLIP-seq
MIRT2548604	hsa-miR-4790-3p	CLIP-seq
MIRT2548605	hsa-miR-499-3p	CLIP-seq
MIRT2548606	hsa-miR-499a-3p	CLIP-seq
MIRT2548607	hsa-miR-508-3p	CLIP-seq
MIRT2548608	hsa-miR-512-3p	CLIP-seq
MIRT2548609	hsa-miR-513a-5p	CLIP-seq
MIRT2548610	hsa-miR-520f	CLIP-seq
MIRT2682492	hsa-miR-590-3p	CLIP-seq
MIRT2548611	hsa-miR-642b	CLIP-seq
MIRT2682493	hsa-miR-659	CLIP-seq
MIRT2548612	hsa-miR-767-3p	CLIP-seq
MIRT2548613	hsa-miR-875-5p	CLIP-seq
MIRT2548614	hsa-miR-935	CLIP-seq

89 Show/Hide all (89)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001587	Function	Gq/11-coupled serotonin receptor activity	IDA	18703043, 35084960
GO:0001618	Function	Virus receptor activity	IEA
GO:0001659	Process	Temperature homeostasis	IEA
GO:0002720	Process	Positive regulation of cytokine production involved in immune response	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004993	Function	G protein-coupled serotonin receptor activity	IBA
GO:0004993	Function	G protein-coupled serotonin receptor activity	IDA	7582481, 15862800
GO:0004993	Function	G protein-coupled serotonin receptor activity	IEA
GO:0004993	Function	G protein-coupled serotonin receptor activity	TAS	9109547
GO:0005515	Function	Protein binding	IPI	14988405, 16537434, 18297054, 28258217, 30157263
GO:0005883	Component	Neurofilament	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15862800, 18703043
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9109547
GO:0005901	Component	Caveola	IEA
GO:0006096	Process	Glycolytic process	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IDA	19057895
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IBA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IBA
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IDA	20966218, 37991948
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IDA	35084960
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IEA
GO:0007210	Process	Serotonin receptor signaling pathway	IBA
GO:0007210	Process	Serotonin receptor signaling pathway	TAS	9109547
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007268	Process	Chemical synaptic transmission	TAS	9109547
GO:0007613	Process	Memory	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IBA
GO:0009410	Process	Response to xenobiotic stimulus	IDA	15862800
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010513	Process	Positive regulation of phosphatidylinositol biosynthetic process	IDA	19057895
GO:0014059	Process	Regulation of dopamine secretion	IEA
GO:0014824	Process	Artery smooth muscle contraction	IEA
GO:0014832	Process	Urinary bladder smooth muscle contraction	IEA
GO:0016020	Component	Membrane	IEA
GO:0030296	Function	Protein tyrosine kinase activator activity	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IEA
GO:0030594	Function	Neurotransmitter receptor activity	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031652	Process	Positive regulation of heat generation	IEA
GO:0042220	Process	Response to cocaine	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042802	Function	Identical protein binding	IPI	19279328, 28258217
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043198	Component	Dendritic shaft	IEA
GO:0043267	Process	Negative regulation of potassium ion transport	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	IEA
GO:0044380	Process	Protein localization to cytoskeleton	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045600	Process	Positive regulation of fat cell differentiation	IEA
GO:0045821	Process	Positive regulation of glycolytic process	IEA
GO:0045907	Process	Positive regulation of vasoconstriction	IEA
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0046960	Process	Sensitization	IEA
GO:0048148	Process	Behavioral response to cocaine	IEA
GO:0050729	Process	Positive regulation of inflammatory response	IEA
GO:0050951	Process	Sensory perception of temperature stimulus	IEA
GO:0050965	Process	Detection of temperature stimulus involved in sensory perception of pain	IEA
GO:0050966	Process	Detection of mechanical stimulus involved in sensory perception of pain	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IBA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IDA	15862800
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IMP	18703043
GO:0051378	Function	Serotonin binding	IDA	7582481, 15831837, 15862800, 18703043, 19057895
GO:0051967	Process	Negative regulation of synaptic transmission, glutamatergic	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	19057895
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070852	Component	Cell body fiber	IEA
GO:0071886	Function	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding	IDA	19057895
GO:0098664	Process	G protein-coupled serotonin receptor signaling pathway	IDA	16517693, 18703043
GO:0098664	Process	G protein-coupled serotonin receptor signaling pathway	IMP	18703043
GO:0098666	Component	G protein-coupled serotonin receptor complex	IDA	18703043
GO:0098793	Component	Presynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IEA
GO:0099589	Function	Serotonin receptor activity	IDA	35084960
GO:0099589	Function	Serotonin receptor activity	IEA
GO:1900119	Process	Positive regulation of execution phase of apoptosis	IEA
GO:1901731	Process	Positive regulation of platelet aggregation	IEA
GO:2000573	Process	Positive regulation of DNA biosynthetic process	IEA

MIM	HGNC	e!Ensembl
182135	5293	ENSG00000102468

P28223

Protein name

5-hydroxytryptamine receptor 2A (5-HT-2) (5-HT-2A) (Serotonin receptor 2A)

Protein function

G-protein coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:1330647, PubMed:18703043, PubMed:19057895, PubMed:21645528, PubMed:22300836, PubMed:35084960, PubMed:38552625). Also functions as a receptor for various drugs and psychoactiv

PDB

6A93 , 6A94 , 6WGT , 6WH4 , 6WHA , 7RAN , 7VOD , 7VOE , 7WC4 , 7WC5 , 7WC6 , 7WC7 , 7WC8 , 7WC9 , 8JT8 , 8UWL , 8V6U , 8ZMG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00001	7tm_1	91 → 380	7 transmembrane receptor (rhodopsin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in brain cortex (at protein level). Detected in blood platelets. {ECO:0000269|PubMed:18297054}.

Sequence

MDILCEENTSLSSTTNSLMQLNDDTRLYSNDFNSGEANTSDAFNWTVDSENRTNLSCEGC
LSPSCLSLLHLQEKNWSALLTAVVIILTIAGNILVIMAVSLEKKLQNATNYFLMSLAIAD
MLLGFLVMPVSMLTILYGYRWPLPSKLCAVWIYLDVLFSTASIMHLCAISLDRYVAIQNP
IHHSRFNSRTKAFLKIIAVWTISVGISMPIPVFGLQDDSKVFKEGSCLLADDNFVLIGSF
VSFFIPLTIMVITYFLTIKSLQKEATLCVSDLGTRAKLASFSFLPQSSLSSEKLFQRSIH
REPGSYTGRRTMQSISNEQKACKVLGIVFFLFVVMWCPFFITNIMAVICKESCNEDVIGA
LLNVFVWIGYLSSAVNPLVYTLFNKTYRSAFSRYIQCQYKENKKPLQLILVNTIPALAYK
SSQLQMGQKKNSKQDAKTTDNDCSMVALGKQHSEEASKDNSDGVNEKVSCV

Sequence length

471

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Calcium signaling pathway	Serotonin receptors
Neuroactive ligand-receptor interaction	G alpha (q) signalling events
Gap junction
Serotonergic synapse
Inflammatory mediator regulation of TRP channels

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (48)
ASTHMA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	24993907, 25322896	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	17280648	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL GANGLIA DISEASES	—	CTD, Disgenet CTD, Disgenet	18480698	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet CTD, Disgenet	14708030	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	24993907	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cocaine-Related Disorders	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	29294249	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★★★★ ★★☆☆☆ 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, MAJOR	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINESIAS	—	CTD	11526996	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINETIC SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HTR2A-related disorder	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	17888573, 18930597	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIS	—	CTD	16300424, 19347958	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSION, SINGLE EPISODE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	ClinVar, Disgenet ClinVar, Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major depressive disorder, response to citalopram therapy in	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMORY DISORDERS	—	CTD, Disgenet CTD, Disgenet	29294249	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASES	—	CTD, Disgenet CTD, Disgenet	19142110	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDERS	—	CTD, Disgenet CTD, Disgenet	12482207	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	35131881	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	17097612	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet	19644229	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obsessive-compulsive disorder, susceptibility to	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	34689653	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	25663231	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	CTD	14708030	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY DISEASE, CHRONIC OBSTRUCTIVE	—	CTD	22048642	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECURRENT MAJOR DEPRESSIVE EPISODES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAPHO SYNDROME	—	GWAS catalog	33816493	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet	14708030, 18513383	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia, susceptibility to	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL AFFECTIVE DISORDER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MAJOR DEPRESSION WITH PSYCHOTIC FEATURES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (251)
Abdominal Migraine	Abdominal Migraine	CTD_human_DG	12482207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Confusional Migraine	Confusional Migraine	CTD_human_DG	12482207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	16640790, 17525976, 26303700, 34336000	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	31111219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	9700207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	20413853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	17804117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	10624828, 11134666, 11239910, 11702058, 11803452, 12231269, 15167698, 16397402, 18855537, 19863848, 20545463, 9601682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	LHGDN	11803452, 12231269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia nervosa	Pubtator	16087994, 20545463	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	21519306, 22138326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	36094569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	15313842, 15777774, 18772038, 25106036, 27912162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	23397970, 25041420, 29249830	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	15313842, 15777774, 18772038, 20383137, 22006095, 25106036, 27912162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	37984468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	16699051, 20179740, 23254357, 36561742	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	29602729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	37238670	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia	Ataxia	Pubtator	22615781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	11032388, 12167522, 12192616, 12606840, 15802092, 16026119, 16701945, 16741915, 16958038, 17093889, 22825876, 23872233, 30074224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	27230021	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	20628446, 24753316, 24968012	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	17280648, 18592367, 19647026, 24753316, 24887447, 24968012, 26149086, 26262902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	11920848, 17280648, 20471101, 22030357, 26149086, 8953659		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	17203304, 26262902	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	LHGDN	17280648		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	17280648		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ballismus	Ballismus	CTD_human_DG	11526996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal Ganglia Diseases	CTD_human_DG	18480698		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bedwetting	Nocturnal enuresis	BEFREE	21089166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	39278467	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	10893484, 10898915, 11702051, 11983190, 12622403, 12851635, 14744462, 15948763, 17221840, 19428704, 19584773, 19647327, 21550210, 21598376, 23404241 View all (5 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	14708030		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	21550210, 22564712, 23404241, 24962835, 25043477		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	24136241, 27063557, 28751646, 30178121, 31676688, 38377518, 39278467	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	30178121	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar I disorder	Bipolar Disorder	BEFREE	12898571, 24136241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar II disorder	Bipolar Disorder	BEFREE	22564712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	16179957	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	11287798, 14744462, 17000047, 22139575, 24355137, 30510522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	Pubtator	22139575, 24751216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16580628, 22210241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35168555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	14744462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bruxism	Bruxism	Pubtator	32367059	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	17804117, 24257701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	BEFREE	10624828, 15167698, 15245785, 15999344, 17804117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37564635	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	21760883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	36472833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	36657118	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	14508013, 17401157, 27597145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	23158458	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	17401157, 17622759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	17401157, 23973249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervical Migraine Syndrome	Migraine	CTD_human_DG	12482207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	LHGDN	15950062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	15950062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	22048642, 30219683, 31787571		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	CTD_human_DG	22048642		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic schizophrenia	Schizophrenia	BEFREE	11317227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	16960982, 23362947		★★★★★ ★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	23158458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29873956, 30240581, 31500679		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Migraine	Common Migraine	BEFREE	8933989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Compulsive hoarding	Compulsive Hoarding	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct disorder	Pubtator	23457595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	18197083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	17936780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10781645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Vasospasm	Coronary Artery Vasospasm	BEFREE	16960982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	12600951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystitis Interstitial	Interstitial cystitis	Pubtator	30973927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	Pubtator	33086708	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	BEFREE	19361869, 19494443, 29098976, 30673880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	11725820, 15000807		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	14708030		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depression, Bipolar	Bipolar Disorder	BEFREE	18801406		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	10893484, 12622403, 14508013, 15241435, 16806099, 17069769, 17183148, 17339524, 17510953, 17525976, 18772038, 18801406, 20383137, 21305503, 22210241 View all (16 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	17525976, 19924111, 22228829, 23158458, 23217578, 24959950, 24968012, 25041420, 26262902, 31676688, 37678326, 37984468	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	23158458, 23973249, 24314147, 24411530, 25106036		★★★★★ ★★☆☆☆ 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	20047709	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	LHGDN	18181968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	19712556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19712556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19690620, 31152805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	9767524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma	BEFREE	30124166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	11287798, 19493540, 24751216, 29120849	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	27325396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	CTD_human_DG	11526996		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	19439249		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	27272046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	10624828, 11735319, 11950504, 15245785, 18855537, 31199591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	20736508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	16399808, 22681516		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	34912075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	11378836, 17713649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	17713649	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Extrapyramidal Disorders	Extrapyramidal disease	CTD_human_DG	18480698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	20941551	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	20941551	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	26884719, 30446669		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis, Liver	Liver Fibrosis	BEFREE	29660654, 31344280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	23119095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	11140952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	16045972, 17241828, 20010450, 25858583, 31243645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37564635	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	15564892, 17481814, 27719624, 29098976, 30318013, 30673880, 30837203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	17936780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiballismus	Hemiballismus	CTD_human_DG	11526996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemicrania migraine	Hemicrania Migraine	CTD_human_DG	12482207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31496784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperprolactinemia	BEFREE	31520576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperproinsulinemia	Pubtator	31520576	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	31906879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	10516655	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	11378836, 15659047, 16778329, 17204265		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	16778329		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemia	Hyperuricemia	BEFREE	16328014		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis Bullosa of Siemens	Ichthyosis Bullosa Of Siemens	BEFREE	15232358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28821451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	19844076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28758583, 29873956, 30240581, 31500679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	20198576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	38492610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Involutional Depression	Involutional Depression	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Involutional paraphrenia	Involutional Paraphrenia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	15232358, 21325954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	17401157		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	15247977	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	17936780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lenticulostriate Disorders	Lenticulostriate Disorders	CTD_human_DG	18480698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lingual-Facial-Buccal Dyskinesia	Orofacial dyskinesia	CTD_human_DG	11526996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	16960982, 23362947		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	10893484, 19584773, 9086465, 9194200, 9341875		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	10893484, 19584773, 9086465, 9194200, 9341875		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	10893484, 19584773, 9086465, 9194200, 9341875		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	10893484, 19584773, 9086465, 9194200, 9341875		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	10893484, 19584773, 9086465, 9194200, 9341875		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	10893484, 19584773, 9086465, 9194200, 9341875		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	10893484, 19584773, 9086465, 9194200, 9341875		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major depression, single episode	Mental Depression	PSYGENET_DG	19758789		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major depression, single episode	Mental Depression	BEFREE	19758789, 31120232		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	10686553, 11121191, 11311507, 11317230, 11803534, 12422060, 12707936, 12851635, 14730199, 14744462, 15469201, 16127283, 17221840, 19428704, 19560507 View all (26 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	22612784, 24801750, 24962835, 25108775, 25270656		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Carcinoid Syndrome	Carcinoid tumor of intestine	BEFREE	28594246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16580628, 22210241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	14708030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	14708030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Maternal hypertension	Maternal hypertension	BEFREE	25223859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	10893484, 12622403, 14508013, 15241435, 16806099, 17069769, 17183148, 17339524, 17510953, 17525976, 18772038, 18801406, 20383137, 21305503, 22210241 View all (13 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	23158458, 23537781, 23973249, 24314147, 25106036		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	10464662, 11920859, 12063151, 14744462, 15722960, 16358338, 17691947, 23404241, 24959950, 25043477, 31500679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	CTD_human_DG	19142110		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	24959950, 28412910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	11489292, 14668201, 20930387, 8675433		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	CTD_human_DG	12482207		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine with Aura	Migraine with Aura	BEFREE	20930387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine	Pubtator	20930387	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine without Aura	Migraine	Pubtator	20930387	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	17525976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	20403506, 24411530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	10482339, 10758249, 10802129, 10893484, 11983190, 11992560, 12063151, 14744462, 15108180, 15483560, 16026119, 18783799, 19361869, 19381154, 19428704 View all (5 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	LHGDN	14744462		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	19361869, 19381154, 19584773, 20826676, 22558144		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood disorder	Pubtator	20043006, 22558144, 39472813	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement Disorders	BEFREE	11317228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	33335118	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	12605580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	16179957, 17713649	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	11444684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32986378	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30777054		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28177082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	14751426, 23380172, 8931486		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	7623119, 9282925, 9831908	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	25041420	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	23380172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	21853033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30446669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	15000807, 15048655, 15313842, 17407792, 17525976, 17614196, 18297054, 19910872, 21550210, 24411530, 27719624, 27955830, 28758583, 30240581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12079891, 17922252, 19690620, 21977970, 23537943, 23544600, 24959950, 27228958, 30157263		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	CTD_human_DG	17097612		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	23544600, 23900445, 24959950, 27228958	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	11239910, 12476319, 12650952, 12927326, 15886722, 16443280, 17241828, 17503984, 18191318, 18197083, 20937529, 21874579, 22665263, 24411530, 26616111, 28576508, 29331882, 29785111 View all (3 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	LHGDN	12476319		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	CTD_human_DG	19644229		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral Dyskinesia	Oral Dyskinesia	CTD_human_DG	11526996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30777054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	11444684, 12759158, 15182959, 15722953, 17440930, 18436425, 18832011, 20817074, 22036916, 26390831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	LHGDN	12759158, 18436425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic disorder	Pubtator	20817074, 29249830, 32723321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paranoid Schizophrenia	Paranoid Schizophrenia	BEFREE	21912188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	17614196, 21900033, 27325396, 27719624, 27955830, 30673880		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	24398658	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	20817074, 27325396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Personality Disorders	Personality Disorders	BEFREE	11287798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	17280648, 19647026, 24753316, 24968012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	30632995, 31105836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	11725820, 15000807		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	16794822, 20198576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Agitation	Psychiatric disorders	Pubtator	26303700	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychosis, Brief Reactive	Psychosis	CTD_human_DG	14708030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychosis, Involutional	Psychosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	CTD_human_DG	14708030		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	15000807, 15048655, 15313842, 17221840, 17407792, 17525976, 17614196, 18297054, 19910872, 21550210, 24411530, 27719624, 27955830, 28758583, 30240581, 30318013 View all (1 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychotic disorders	Pubtator	31676688	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Eosinophilia	Pulmonary Eosinophilia	BEFREE	15356103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28821451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	8900237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	8900237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16699051, 18006541, 20179740, 23254357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	CTD_human_DG	14708030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	15469201, 19142110, 20521326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizoaffective disorder, bipolar type	Schizoaffective Disorder	BEFREE	12622403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10077731, 10220013, 10650880, 10686553, 10686558, 10754425, 10781645, 10869881, 11317227, 11317228, 11526996, 11574947, 11891796, 12109966, 12606842 View all (83 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	12140776, 12624948, 14741324, 14744462, 15048642, 16187138, 17221846, 17240119, 17521439, 17617023, 17688403, 17899021, 17924589, 18420180		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	14708030, 18513383		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	15383158, 18420180, 25041420, 29032150, 36641432, 37564635	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia and related disorders	Schizophrenia	BEFREE	15952869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophreniform Disorders	Schizophreniform Disorders	CTD_human_DG	14708030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seasonal Affective Disorder	Seasonal Affective Disorder	BEFREE	10089016, 11244145, 11735319, 12167522, 16899354, 20580209, 8959291		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seasonal Affective Disorder	Seasonal Affective Disorder	PSYGENET_DG	11244145, 11735319, 12167522, 16899354, 20580209		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe major depression with psychotic features	Mental Depression With Psychotic Features	BEFREE	23221997		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe major depression with psychotic features	Mental Depression With Psychotic Features	PSYGENET_DG	23221997		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sexual Dysfunction	Sexual Dysfunction	BEFREE	22612784, 31792367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Shared Paranoid Disorder	Shared Paranoid Disorder	BEFREE	20211215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	21760883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin-picking	Skin-picking	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	20538960, 32367059	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	20538960, 21739010, 22074567, 22281949, 23988500, 24065538, 24475124, 24755731, 25917830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Migrainosus	Status Migrainosus	CTD_human_DG	12482207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	26884719, 30446669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	LHGDN	18761744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	18761744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	22074755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular regression syndrome	Testicular regression syndrome	BEFREE	18359159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	16179957	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	10686553, 11121191, 11311507, 11317230, 11803534, 12422060, 14744462, 15469201, 17221840, 19428704, 19590397, 19897250, 19937159, 20047709, 21136126 View all (13 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	22612784, 24801750, 24962835, 25108775, 25270656		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	7623119	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
HTR2C	5	["Depression","Bipolar depression","Mood disorder","Hyperkinesia","Seasonal affective disorder"]	6	["Calcium signaling pathway","Gap junction","Serotonergic synapse","Inflammatory mediator regulation of TRP channels","G alpha (q) signalling events","Serotonin receptors"]	10	["Disgenet (Depression)","Disgenet (Obesity)","Disgenet (Bipolar depression)","Disgenet (Mood disorder)","Disgenet (Hyperkinesia)","CTD (Hyperkinesia)","Disgenet (Metabolic syndrome)","CTD (Metabolic syndrome)","CTD (Obesity)","Disgenet (Seasonal affective disorder)"]
HTR2B	2	["Fatty liver","Fatty liver, alcoholic"]	6	["Calcium signaling pathway","Gap junction","Serotonergic synapse","Inflammatory mediator regulation of TRP channels","G alpha (q) signalling events","Serotonin receptors"]	2	["Disgenet (Fatty liver)","Disgenet (Fatty liver, alcoholic)"]
SLC6A4	9	["Depression","Obstructive airway disease","Cognition disorder","Delirium, dementia, and cognitive disorders","Bipolar depression","Mood disorder","Memory disorders","Obsessive-compulsive disorder","Seasonal affective disorder"]	1	["Serotonergic synapse"]	16	["Disgenet (Asthma)","CTD (Bipolar disorder)","Disgenet (Depression)","Disgenet (Obstructive airway disease)","CTD (Cognition disorder)","Disgenet (Delirium, dementia, and cognitive disorders)","Disgenet (Bipolar depression)","CTD (Major depressive disorder)","Disgenet (Mood disorder)","CTD (Memory disorders)","Disgenet (Memory disorders)","Disgenet (Obsessive-compulsive disorder)"]
COMT	9	["Depression","Cognition disorder","Delirium, dementia, and cognitive disorders","Bipolar depression","Mood disorder","Dyskinesia","Hyperalgesia","Memory disorders","Obsessive-compulsive disorder"]	0	[]	13	["CTD (Bipolar disorder)","Disgenet (Depression)","Disgenet (Obesity)","CTD (Cognition disorder)","Disgenet (Delirium, dementia, and cognitive disorders)","Disgenet (Bipolar depression)","Disgenet (Mood disorder)","Disgenet (Dyskinesia)","CTD (Hyperalgesia)","CTD (Memory disorders)","Disgenet (Memory disorders)","Disgenet (Obsessive-compulsive disorder)"]
DRD3	7	["Basal ganglia disease","Depression","Cognition disorder","Delirium, dementia, and cognitive disorders","Mood disorder","Hyperalgesia","Hyperkinesia"]	0	[]	11	["CTD (Basal ganglia disease)","Disgenet (Basal ganglia disease)","Disgenet (Depression)","CTD (Cognition disorder)","Disgenet (Delirium, dementia, and cognitive disorders)","Disgenet (Mood disorder)","CTD (Hyperalgesia)","Disgenet (Hyperkinesia)","CTD (Hyperkinesia)","CTD (Schizophrenia)","ClinVar (Schizophrenia)"]

HTR2A (5-hydroxytryptamine receptor 2A)

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