DBH (dopamine beta-hydroxylase)

Gene

• Entrez ID: 1621
• Gene name: Dopamine beta-hydroxylase
• Gene symbol: DBH
• Synonyms (NCBI Gene): DBM, ORTHYP1
• Chromosome: 9
• Chromosome location: 9q34.2
• Summary: The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. The encoded protein, expressed in neuroscretory vesicles and chromaffin granules of the adrenal medulla, catalyzes the convers

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74853476	T>C	Pathogenic	Splice donor variant
rs75215331	C>A,T	Likely-benign, pathogenic	Missense variant, coding sequence variant
rs77576840	C>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs199926239	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs267606760	G>A	Pathogenic	Missense variant, coding sequence variant
rs267606761	G>A	Pathogenic	Missense variant, coding sequence variant
rs863225244	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs863225245	G>T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017290	hsa-miR-335-5p	Microarray	18185580
MIRT923702	hsa-miR-3664-3p	CLIP-seq
MIRT923703	hsa-miR-421	CLIP-seq
MIRT923704	hsa-miR-4649-5p	CLIP-seq
MIRT923705	hsa-miR-4685-5p	CLIP-seq
MIRT923706	hsa-miR-4709-5p	CLIP-seq
MIRT923707	hsa-miR-4746-5p	CLIP-seq
MIRT923708	hsa-miR-505	CLIP-seq
MIRT923709	hsa-miR-510	CLIP-seq
MIRT923710	hsa-miR-512-5p	CLIP-seq
MIRT1973634	hsa-miR-4776-5p	CLIP-seq
MIRT2209190	hsa-miR-1908	CLIP-seq
MIRT2209191	hsa-miR-3180	CLIP-seq
MIRT2209192	hsa-miR-3180-3p	CLIP-seq
MIRT2209193	hsa-miR-3196	CLIP-seq
MIRT2209194	hsa-miR-4488	CLIP-seq
MIRT2209195	hsa-miR-4697-5p	CLIP-seq
MIRT2209196	hsa-miR-4781-5p	CLIP-seq
MIRT2209197	hsa-miR-503	CLIP-seq
MIRT2209198	hsa-miR-663	CLIP-seq
MIRT2209199	hsa-miR-744	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HAND2	Activation	14512028
PHOX2A	Activation	16280598
PHOX2A	Unknown	11034547
PHOX2B	Activation	11034547;16280598
PHOX2B	Unknown	15888479
TFAP2A	Unknown	11146001
YY1	Activation	8753872

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0001975	Process	Response to amphetamine	IEA
GO:0002443	Process	Leukocyte mediated immunity	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0003824	Function	Catalytic activity	TAS	3443096
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004500	Function	Dopamine beta-monooxygenase activity	IBA
GO:0004500	Function	Dopamine beta-monooxygenase activity	IDA	3443096, 7961964
GO:0004500	Function	Dopamine beta-monooxygenase activity	IEA
GO:0005507	Function	Copper ion binding	IBA
GO:0005507	Function	Copper ion binding	IDA	7961964, 27152332
GO:0005507	Function	Copper ion binding	IEA
GO:0005515	Function	Protein binding	IPI	26199316, 32296183, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	7961964
GO:0005737	Component	Cytoplasm	TAS	3443096
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0006589	Process	Octopamine biosynthetic process	IBA
GO:0007268	Process	Chemical synaptic transmission	TAS	2880016
GO:0007613	Process	Memory	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008306	Process	Associative learning	IEA
GO:0008542	Process	Visual learning	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	3443096
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016715	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen	IEA
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0030667	Component	Secretory granule membrane	IBA
GO:0030667	Component	Secretory granule membrane	IDA	7961964
GO:0030667	Component	Secretory granule membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031418	Function	L-ascorbic acid binding	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0034466	Component	Chromaffin granule lumen	IEA
GO:0034774	Component	Secretory granule lumen	IDA	7961964
GO:0034774	Component	Secretory granule lumen	IEA
GO:0034774	Component	Secretory granule lumen	TAS
GO:0042309	Process	Homoiothermy	IEA
GO:0042310	Process	Vasoconstriction	IEA
GO:0042420	Process	Dopamine catabolic process	IBA
GO:0042420	Process	Dopamine catabolic process	IDA	3443096, 7961964
GO:0042420	Process	Dopamine catabolic process	IEA
GO:0042421	Process	Norepinephrine biosynthetic process	IBA
GO:0042421	Process	Norepinephrine biosynthetic process	IEA
GO:0042421	Process	Norepinephrine biosynthetic process	IEA
GO:0042421	Process	Norepinephrine biosynthetic process	IMP	27148966
GO:0042423	Process	Catecholamine biosynthetic process	IEA
GO:0042584	Component	Chromaffin granule membrane	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042596	Process	Fear response	IEA
GO:0042711	Process	Maternal behavior	IEA
GO:0045202	Component	Synapse	IEA
GO:0045907	Process	Positive regulation of vasoconstriction	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048149	Process	Behavioral response to ethanol	IEA
GO:0048265	Process	Response to pain	IEA
GO:0050900	Process	Leukocyte migration	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	9139828
GO:1904705	Process	Regulation of vascular associated smooth muscle cell proliferation	IEA
GO:1905562	Process	Regulation of vascular endothelial cell proliferation	IEA
GO:2001236	Process	Regulation of extrinsic apoptotic signaling pathway	IEA

Other IDs

• MIM: 609312
• HGNC: 2689
• e!Ensembl: ENSG00000123454

Protein

• UniProt ID: P09172
• Protein name: Dopamine beta-hydroxylase (EC 1.14.17.1) (Dopamine beta-monooxygenase) [Cleaved into: Soluble dopamine beta-hydroxylase]
• Protein function: Catalyzes the hydroxylation of dopamine to noradrenaline (also known as norepinephrine), and is thus vital for regulation of these neurotransmitters. {ECO:0000269|PubMed:27148966, ECO:0000269|PubMed:3443096, ECO:0000269|PubMed:7961964, ECO:00002
• PDB: 4ZEL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03351	DOMON	55 → 172	DOMON domain	Domain
  PF01082	Cu2_monooxygen	214 → 341	Copper type II ascorbate-dependent monooxygenase, N-terminal domain	Domain
  PF03712	Cu2_monoox_C	360 → 516	Copper type II ascorbate-dependent monooxygenase, C-terminal domain	Domain

• Sequence:

  MPALSRWASLPGPSMREAAFMYSTAVAIFLVILVAALQGSAPRESPLPYHIPLDPEGSLE
  LSWNVSYTQEAIHFQLLVRRLKAGVLFGMSDRGELENADLVVLWTDGDTAYFADAWSDQK
  GQIHLDPQQDYQLLQVQRTPEGLTLLFKRPFGTCDPKDYLIEDGTVHLVYGILEEPFRSL
  EAINGSGLQMGLQRVQLLKPNIPEPELPSDACTMEVQAPNIQIPSQETTYWCYIKELPKG
  FSRHHIIKYEPIVTKGNEALVHHMEVFQCAPEMDSVPHFSGPCDSKMKPDRLNYCRHVLA
  AWALGAKAFYYPEEAGLAFGGPGSSRYLRLEVHYHNPLVIEGRNDSSGIRLYYTAKLRRF
  NAGIMELGLVYTPVMAIPPRETAFILTGYCTDKCTQLALPPSGIHIFASQLHTHLTGRKV
  VTVLVRDGREWEIVNQDNHYSPHFQEIRMLKKVVSVHPGDVLITSCTYNTEDRELATVGG
  FGILEEMCVNYVHYYPQTQLELCKSAVDAGFLQKYFHLINRFNNEDVCTCPQASVSQQFT
  SVPWNSFNRDVLKALYSFAPISMHCNKSSAVRFQGEWNLQPLPKVISTLEEPTPQCPTSQ
  GRSPAGPTVVSIGGGKG

• Sequence length: 617

Pathways

KEGG:

Tyrosine metabolism
Metabolic pathways

Reactome:

Catecholamine biosynthesis

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
Lymphoma	Pathogenic	rs74853476	RCV005887197	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Orthostatic hypotension 1	Pathogenic; Likely pathogenic	rs766640976, rs74853476, rs2538344277, rs2538344178, rs768783966, rs757399972, rs768149947	RCV002785699 RCV000001820 RCV002852500 RCV003498638 RCV003498517 RCV003601053 RCV001050113	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DBH-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOPAMINE BETA HYDROXYLASE DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOPAMINE BETA-HYDROXYLASE DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dopamine beta-hydroxylase polymorphism	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE WITH AURA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	★★☆☆☆ 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	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PHEOCHROMOCYTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural hearing loss disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	30406946		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	25946206, 3443096, 723634, 9578504		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21070631, 23416088, 30909233, 31771069	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	24521142		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	24521142	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	24252179		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	24252179, 9654201		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	25059547	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit and Disruptive Behavior Disorders	Attention deficit hyperactivity disorder	Pubtator	27633436	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	17131588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	15767706, 16380908, 16741944, 22841130, 26447643, 30379906, 34573389, 35405990	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	10334470, 11857576, 12042196, 12377397, 12707943, 15167700, 15767706, 16616730, 16616989, 16741944, 16876143, 17131588, 17184598, 18030083, 18081028, 19757024, 21216270, 21761554, 22404661, 22841130, 22895683, 23109089, 23692268, 25975715, 26447643, 28097908, 30379906, 31265749		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	36143905	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	15048649, 21538940, 3048227, 558741		★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	12438171, 12833405		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	10214353, 7743499		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	10578238, 23384717, 7719704, 8750358, 8840392		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	23384717, 7719704, 8750358		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11775532		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27894309	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11775532		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29336169		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	17698206, 28707163, 30357655		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10214353, 7743499		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	21685187		★☆☆☆☆ Found in Text Mining only
Chronic schizophrenia	Schizophrenia	BEFREE	26891013		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	23707643, 28647493		★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct Disorder	BEFREE	26616837		★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct disorder	Pubtator	27633436	Associate	★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation	Congenital Central Hypoventilation	BEFREE	21964250, 22103583		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	24296323, 30401628		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	17698206, 18982239, 23906995, 8083026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	18982239, 20621148, 23305027, 23512949, 23906995		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	25059547, 31913053	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	29225702		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29225702		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29225702		★☆☆☆☆ Found in Text Mining only
dopamine beta hydroxylase deficiency	Dopamine Beta Hydroxylase Deficiency	BEFREE	21209083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
dopamine beta hydroxylase deficiency	Dopamine Beta Hydroxylase Deficiency	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
dopamine beta hydroxylase deficiency	Dopamine Beta Hydroxylase Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dopamine beta-hydroxylase deficiency	Dopamine Beta Hydroxylase Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down Syndrome	BEFREE	31678403		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	26410747		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	30379906		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	20186791		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	1677923		★☆☆☆☆ Found in Text Mining only
Dystonia Musculorum Deformans	Dystonia	BEFREE	11571351, 1677923, 6486739, 7359123		★☆☆☆☆ Found in Text Mining only
Endogenous depression	Mental Depression	BEFREE	6846043		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	15505174, 22881836		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	16097364, 20009769		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	20009769	Associate	★☆☆☆☆ Found in Text Mining only
Familial Dystonia	Dystonia	BEFREE	1677923		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	10334470, 16838359, 6582811, 7619976, 8725745		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	29294337		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	9778036		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	9778036		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	33713422	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	24296323, 30401628		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	32877226	Associate	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	31265749		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	30182387		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	22103583, 27778639		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	16741944	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	20009769, 37451613	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	1120928, 16097364, 24296323, 28473232, 30401628		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	16097364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Hypoglycemia	BEFREE	28379214		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23707643, 28647493		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30817802		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	30817802	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	24391727		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	10334470		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30406946		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	19276553		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	7719704, 8750358		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	11904129, 11904130, 24888991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	11904129, 11904130, 24888991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung	Lung Cancer	BEFREE	29336169		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11775532		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30962539		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	723634		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	35405990	Associate	★☆☆☆☆ Found in Text Mining only
Menkes Kinky Hair Syndrome	Menkes Kinky Hair Syndrome	BEFREE	19234788, 9587147		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	17698206, 23906995, 8083026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	17698206, 20621148, 23305027, 23512949, 23906995		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	10673769, 15088079, 16176167, 6085951		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	11085595, 12624717, 17095019, 19219470, 20164768, 21668745, 22875483, 25929431, 26632697, 26868704, 30972508		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	25929431	Associate	★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	17095019, 19152006		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild cognitive disorder	Cognitive disorder	BEFREE	17200925		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	12942993, 18982239, 6951409, 7811839		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	12942993, 18982239, 6846043, 7811839		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple endocrine neoplasia Type 2	Multiple Endocrine Neoplasia	BEFREE	723634		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	BEFREE	723634		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2b	Multiple Endocrine Neoplasia	BEFREE	10023663		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	3631133		★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic Dystonia	BEFREE	1677923		★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11775532, 31291139, 723634, 7743499		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	15088079		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	12842874, 19460840, 8753872	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	BEFREE	15181182, 23417100, 2702581, 7525897, 7688735, 8546710, 9481616		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	CTD_human_DG	25174395		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	11532994, 28390951		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	18982239		★☆☆☆☆ Found in Text Mining only
Nocturia	Nocturia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ORTHOSTATIC HYPOTENSION 1	Orthostatic hypotension	CLINVAR_DG	11857564, 14598346, 15060114, 21209083, 21471955, 27778639		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ORTHOSTATIC HYPOTENSION 1	Orthostatic hypotension	UNIPROT_DG	11857564		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ORTHOSTATIC HYPOTENSION 1	Orthostatic hypotension	GENOMICS_ENGLAND_DG	27604308, 27778639, 27830117		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Orthostatic syncope	Orthostatic syncope	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29067460		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	24618767		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	25946206		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	25946206	Associate	★☆☆☆☆ Found in Text Mining only
Paranoia	Paranoia	BEFREE	10673769, 12555232, 17157269, 19462300, 24521142		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paranoia	Paranoia	CTD_human_DG	10673769, 12555232, 17157269		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paranoid Disorders	Paranoia	Pubtator	23458673, 24521142	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parathyroid hyperplasia	Parathyroid hyperplasia	BEFREE	723634		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	14991826, 17503507, 17982884, 18722802, 19276553, 20498626, 21147074, 27177268, 27491309, 30187307, 31082450, 31265749		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	17503507		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	21147074	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	27177268, 33539026	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	BEFREE	8083026		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	12833405		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	CTD_human_DG	22569243		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pheochromocytoma	Pheochromocytoma	BEFREE	25946206, 3443096, 723634, 9578504		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pheochromocytoma	Pheochromocytoma	Pubtator	25946206, 3443096	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pheochromocytoma, Extra-Adrenal	Extra-Adrenal Pheochromocytoma	CTD_human_DG	22569243		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	31744506		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	17853400, 20621148		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	LHGDN	17853400		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	24618767		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	30840133		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	25073638		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	32877226	Associate	★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	29498170		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	23512949		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10490716, 10686559, 12555232, 12960750, 15088079, 16786561, 21509519, 22871345, 22940547, 23512949, 23559427, 23932573, 23951054, 24710129, 26891013, 27236774, 27776953, 28443016, 28647493, 30357655, 30453293, 3588783, 6445588, 7296932, 7459411, 8908693, 8925253, 9084894, 9564683		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	23932573, 23951054, 31913053	Associate	★☆☆☆☆ Found in Text Mining only
Severe major depression with psychotic features	Mental Depression With Psychotic Features	BEFREE	11904130		★☆☆☆☆ Found in Text Mining only
Sialic Acid Storage Disease, Finnish Type (disorder)	Sialic Acid Storage Disease	BEFREE	28694154		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	31749137		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	1959929		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	11904129, 11904130, 24888991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	11904129, 11904130, 24888991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21483740	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	28042095, 30630012		★☆☆☆☆ Found in Text Mining only