GHRL (ghrelin and obestatin prepropeptide)

Gene

• Entrez ID: 51738
• Gene name: Ghrelin and obestatin prepropeptide
• Gene symbol: GHRL
• Synonyms (NCBI Gene): MTLRP
• Chromosome: 3
• Chromosome location: 3p25.3
• Summary: This gene encodes the ghrelin-obestatin preproprotein that is cleaved to yield two peptides, ghrelin and obestatin. Ghrelin is a powerful appetite stimulant and plays an important role in energy homeostasis. Its secretion is initiated when the stomach is

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001664	Function	G protein-coupled receptor binding	IEA
GO:0001664	Function	G protein-coupled receptor binding	ISS	10604470
GO:0001696	Process	Gastric acid secretion	IBA
GO:0001696	Process	Gastric acid secretion	IEA
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IDA	15572208
GO:0002031	Process	G protein-coupled receptor internalization	IDA	10644702
GO:0005179	Function	Hormone activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005576	Component	Extracellular region	IDA	17392603
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	15039149, 15531532
GO:0005737	Component	Cytoplasm	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006006	Process	Glucose metabolic process	NAS	17392603
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	ISS	10604470
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	16511605
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	ISS
GO:0007416	Process	Synapse assembly	IEA
GO:0008154	Process	Actin polymerization or depolymerization	IDA	15232612
GO:0008343	Process	Adult feeding behavior	ISS
GO:0009725	Process	Response to hormone	IDA	15232612
GO:0009755	Process	Hormone-mediated signaling pathway	IDA	8688086, 31911434
GO:0009755	Process	Hormone-mediated signaling pathway	TAS	16511605
GO:0016358	Process	Dendrite development	IDA	16491079
GO:0016358	Process	Dendrite development	IEA
GO:0016525	Process	Negative regulation of angiogenesis	NAS	15572208
GO:0016608	Function	Growth hormone-releasing hormone activity	IBA
GO:0016608	Function	Growth hormone-releasing hormone activity	IEA
GO:0016608	Function	Growth hormone-releasing hormone activity	ISS	10604470
GO:0016608	Function	Growth hormone-releasing hormone activity	TAS	16511605
GO:0030252	Process	Growth hormone secretion	TAS	16511605
GO:0030296	Function	Protein tyrosine kinase activator activity	IMP	15350694
GO:0030424	Component	Axon	IDA	17113048
GO:0031667	Process	Response to nutrient levels	IEA
GO:0031768	Function	Ghrelin receptor binding	IBA
GO:0031768	Function	Ghrelin receptor binding	IEA
GO:0031768	Function	Ghrelin receptor binding	ISS
GO:0031768	Function	Ghrelin receptor binding	TAS	16511605
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0032024	Process	Positive regulation of insulin secretion	ISS
GO:0032095	Process	Regulation of response to food	IBA
GO:0032095	Process	Regulation of response to food	IEA
GO:0032097	Process	Positive regulation of response to food	IEA
GO:0032100	Process	Positive regulation of appetite	IEA
GO:0032100	Process	Positive regulation of appetite	IEA
GO:0032100	Process	Positive regulation of appetite	ISS
GO:0032691	Process	Negative regulation of interleukin-1 beta production	IDA	15232612
GO:0032691	Process	Negative regulation of interleukin-1 beta production	IEA
GO:0032715	Process	Negative regulation of interleukin-6 production	IDA	15232612
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IDA	15232612
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IEA
GO:0034774	Component	Secretory granule lumen	TAS
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0040010	Process	Positive regulation of growth rate	IEA
GO:0040013	Process	Negative regulation of locomotion	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IC	16511605
GO:0042127	Process	Regulation of cell population proliferation	IDA	15564328, 16394173
GO:0042322	Process	Negative regulation of circadian sleep/wake cycle, REM sleep	IDA	18329818
GO:0043066	Process	Negative regulation of apoptotic process	IDA	15158140
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043400	Process	Cortisol secretion	NAS	17201814
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	15350694
GO:0043627	Process	Response to estrogen	IDA	15292338
GO:0045927	Process	Positive regulation of growth	IEA
GO:0046010	Process	Positive regulation of circadian sleep/wake cycle, non-REM sleep	IDA	18329818
GO:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0046697	Process	Decidualization	IDA	17494105
GO:0050728	Process	Negative regulation of inflammatory response	IBA
GO:0050728	Process	Negative regulation of inflammatory response	IDA	15232612
GO:0051216	Process	Cartilage development	NAS	15576457
GO:0051461	Process	Positive regulation of corticotropin secretion	IDA	12566947
GO:0051464	Process	Positive regulation of cortisol secretion	IDA	12566947, 18329818
GO:0051602	Process	Response to electrical stimulus	IEA
GO:0051965	Process	Positive regulation of synapse assembly	IDA	16491079
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0051969	Process	Regulation of transmission of nerve impulse	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0060124	Process	Positive regulation of growth hormone secretion	IBA
GO:0060124	Process	Positive regulation of growth hormone secretion	IDA	12566947, 18329818
GO:0060124	Process	Positive regulation of growth hormone secretion	IEA
GO:0060399	Process	Positive regulation of growth hormone receptor signaling pathway	IC	12566947
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099013	Component	Neuronal dense core vesicle lumen	IEA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA
GO:0099175	Process	Regulation of postsynapse organization	IEA
GO:0120058	Process	Positive regulation of small intestinal transit	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	19666521
GO:1903012	Process	Positive regulation of bone development	IEA
GO:1903672	Process	Positive regulation of sprouting angiogenesis	IEA
GO:1904000	Process	Positive regulation of eating behavior	IEA
GO:1904179	Process	Positive regulation of adipose tissue development	IEA
GO:1904306	Process	Positive regulation of gastro-intestinal system smooth muscle contraction	IEA
GO:1904346	Process	Positive regulation of gastric mucosal blood circulation	IEA
GO:1904349	Process	Positive regulation of small intestine smooth muscle contraction	IEA
GO:1905333	Process	Regulation of gastric motility	IEA
GO:1905564	Process	Positive regulation of vascular endothelial cell proliferation	IEA
GO:2000253	Process	Positive regulation of feeding behavior	IEA

Other IDs

• MIM: 605353
• HGNC: 18129
• e!Ensembl: ENSG00000157017

Protein

• UniProt ID: Q9UBU3
• Protein name: Appetite-regulating hormone (Growth hormone secretagogue) (Growth hormone-releasing peptide) (Motilin-related peptide) (Protein M46) [Cleaved into: Ghrelin-27; Ghrelin-28 (Ghrelin); Obestatin]
• Protein function: [Ghrelin-27]: Ghrelin is the ligand for growth hormone secretagogue receptor type 1 (GHSR) (PubMed:10604470). Induces the release of growth hormone from the pituitary (PubMed:10604470). Has an appetite-stimulating effect, induces adiposity and s
• PDB: 6H3E, 7F9Y, 7NA7, 7W2Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04644	Motilin_ghrelin	24 → 51	Motilin/ghrelin	Family
  PF04643	Motilin_assoc	57 → 115	Motilin/ghrelin-associated peptide	Family

• Tissue specificity: TISSUE SPECIFICITY: Highest level in stomach. All forms are found in serum as well. Other tissues compensate for the loss of ghrelin synthesis in the stomach following gastrectomy. {ECO:0000269|PubMed:12414809}.
• Sequence:

  MPSPGTVCSLLLLGMLWLDLAMAGSSFLSPEHQRVQQRKESKKPPAKLQPRALAGWLRPE
  DGGQAEGAEDELEVRFNAPFDVGIKLSGVQYQQHSQALGKFLQDILWEEAKEAPADK

• Sequence length: 117

Pathways

KEGG:

cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
Growth hormone synthesis, secretion and action

Reactome:

G alpha (q) signalling events
Synthesis, secretion, and deacylation of Ghrelin

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BONE RESORPTION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CACHEXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEUROPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC ULCER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited obesity	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic syndrome, susceptibility to	risk factor; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MORBID OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECT, FOLATE-SENSITIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS X-LINKED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Uncertain significance; risk factor; Conflicting classifications of pathogenicity; Benign	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Obesity, age at onset of	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acrania	Acrania	CTD_human_DG	17400914		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	LHGDN	12727951		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	28468316		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	21472143		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10444306		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	18246525		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	28598597		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	LHGDN	15126531, 15382608, 16538179		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	28848326		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	LHGDN	12519838, 12679456, 12892652, 15998770, 18728162		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia nervosa	Pubtator	17197106	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	23084284		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	23084284	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	23084284		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	19819949, 28598597		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	19191138		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	19191138		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	15117840, 19160571		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	19819949, 28598597		★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	LHGDN	15052530		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25524946		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18611262, 26472474, 35763463	Associate	★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	LHGDN	15382608, 18728162		★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	30677719		★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	LHGDN	16538179, 17167339, 18534636		★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	BEFREE	16921495		★☆☆☆☆ Found in Text Mining only
Carcinoid tumor of lung	Carcinoid Tumor Of Lung	BEFREE	17556872		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26599409	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	12974878		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	LHGDN	18452507		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	26260705		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	19429016		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	CTD_human_DG	19617644		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	LHGDN	17258885		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29963901		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20920174	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	26599409		★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	19429016		★☆☆☆☆ Found in Text Mining only
Congenital Generalized Lipodystrophy Type 1	Congenital Lipodystrophy	BEFREE	18640396		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	20572026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	24465706		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	17884032		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	17884032		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	22738689	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	17884032		★☆☆☆☆ Found in Text Mining only
Craniorachischisis	Craniorachischisis	CTD_human_DG	17400914		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	18425803		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	LHGDN	12566947, 15248830		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	17556872		★☆☆☆☆ Found in Text Mining only
Depression, Neurotic	Mental Depression	CTD_human_DG	19272368		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	CTD_human_DG	19272368		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	28570394		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Syndrome	Mental Depression	CTD_human_DG	19272368		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	22441120		★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	12974878	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	12974878	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	LHGDN	14585085		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	22441120		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	12974878, 32698854	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12974878, 15820771, 16483881, 16793966, 18249219, 22441120, 24132517, 25095788, 29412827		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	15538935		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	16793966, 24132517		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	16793966		★☆☆☆☆ Found in Text Mining only
Diastematomyelia	Diastematomyelia	CTD_human_DG	17400914		★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	16921495, 17616759		★☆☆☆☆ Found in Text Mining only
Endogenous depression	Mental Depression	CTD_human_DG	19272368		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	19429016		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	CTD_human_DG	21472143		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exencephaly	Anencephaly	CTD_human_DG	17400914		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	18398047		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	LHGDN	14671152		★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	CTD_human_DG	15177919, 16259727		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastritis	Gastritis	LHGDN	17711921		★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	LHGDN	18588931		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	LHGDN	16954444		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	19429016		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	25868387		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	25868387	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	25868387		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	25868387	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	29566446		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	LHGDN	17324965, 18274638		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	CTD_human_DG	20572026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	20572026		★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	26599409	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	LHGDN	15476444		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	LHGDN	15538935, 18205273		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	14514639		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	37876543	Associate	★☆☆☆☆ Found in Text Mining only
Hypotrichosis simplex	Hypotrichosis simplex	BEFREE	29464859		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	31159591	Associate	★☆☆☆☆ Found in Text Mining only
Iniencephaly	Anencephaly	CTD_human_DG	17400914		★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	19429016		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	LHGDN	18809976		★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	20572026		★☆☆☆☆ Found in Text Mining only
Lipodystrophy Congenital Generalized	Lipodystrophy	Pubtator	18640396	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26599409		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	LHGDN	17344504		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	26599409		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	26599409	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	26599409	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	12576449		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	29566446		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25524946		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11874717, 16322288		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25524946		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	LHGDN	15126531, 15292338		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18375957		★☆☆☆☆ Found in Text Mining only
Melancholia	Melancholia	CTD_human_DG	19272368		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28570394		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic Diseases	BEFREE	28597412		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	32698854, 34174062, 37715984	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	35627229, 38127688	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	16204371, 17884032, 18249219, 23257630		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	20572026		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	17324965		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	CTD_human_DG	17400914		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurenteric Cyst	Neurenteric Cyst	CTD_human_DG	17400914		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	LHGDN	17952631		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11502844, 15820771, 16459454, 17884032, 18071345, 19049992, 21345363, 22441120, 23084284, 23257630, 26255942, 27245511, 28597412		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Obesity	Obesity	Pubtator	12181387, 16470700, 17616759, 18611262, 20054173, 23084284, 23900445, 24585435, 34024815, 37715984, 39203789	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Obesity	Obesity	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Obesity	Obesity	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Obesity	Obesity	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Obesity, Morbid	Obesity	BEFREE	11502844		★☆☆☆☆ Found in Text Mining only
Oral Mucositis	Oral Mucositis	BEFREE	29566446		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	14726611		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	23084284		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic disorder	Pubtator	23084284	Associate	★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	16459454		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	31038565	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	LHGDN	17952858, 18246525		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	12364442, 15057670, 17616856, 18075283, 18250617, 19031219		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	29230615		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	30326460		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	LHGDN	12091883, 12519848, 15070936, 15192277, 15292322, 15956087		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	30589518		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11874717, 14763915, 16322288		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16322288		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	29374597		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	16793966		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	18677577		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22369141		★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	19429016		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	23440187	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Cord Myelodysplasia	Spinal Cord Myelodysplasia	CTD_human_DG	17400914		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36505439	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	17688884, 18595130		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32590738, 35449150, 36241983	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33788653	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	BEFREE	29566446		★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	33635380	Associate	★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	CTD_human_DG	17400914		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	25868387		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	25765090		★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	25868387	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	19429016		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	CTD_human_DG	19617644		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	CTD_human_DG	19272368		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	LHGDN	14681862		★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	19429016		★☆☆☆☆ Found in Text Mining only