CALCR (calcitonin receptor)

Gene

• Entrez ID: 799
• Gene name: Calcitonin receptor
• Gene symbol: CALCR
• Synonyms (NCBI Gene): CRT, CT-R, CTR, CTR1
• Chromosome: 7
• Chromosome location: 7q21.3
• Summary: This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating oste

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801197	A>G	Risk-factor	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT438265	hsa-miR-29a-3p	Luciferase reporter assay	24085298
MIRT438265	hsa-miR-29a-3p	Luciferase reporter assay	24085298
MIRT485747	hsa-miR-548c-3p	PAR-CLIP	23592263
MIRT485746	hsa-miR-4668-3p	PAR-CLIP	23592263
MIRT485745	hsa-miR-4760-3p	PAR-CLIP	23592263
MIRT485744	hsa-miR-8063	PAR-CLIP	23592263
MIRT485743	hsa-miR-4698	PAR-CLIP	23592263
MIRT485742	hsa-miR-4735-5p	PAR-CLIP	23592263
MIRT485741	hsa-miR-4424	PAR-CLIP	23592263
MIRT485740	hsa-miR-520a-5p	PAR-CLIP	23592263
MIRT485739	hsa-miR-525-5p	PAR-CLIP	23592263
MIRT485741	hsa-miR-4424	PAR-CLIP	27292025
MIRT485746	hsa-miR-4668-3p	PAR-CLIP	27292025
MIRT485743	hsa-miR-4698	PAR-CLIP	27292025
MIRT485742	hsa-miR-4735-5p	PAR-CLIP	27292025
MIRT485745	hsa-miR-4760-3p	PAR-CLIP	27292025
MIRT485740	hsa-miR-520a-5p	PAR-CLIP	27292025
MIRT485739	hsa-miR-525-5p	PAR-CLIP	27292025
MIRT485744	hsa-miR-8063	PAR-CLIP	27292025
MIRT485747	hsa-miR-548c-3p	PAR-CLIP	23592263
MIRT485746	hsa-miR-4668-3p	PAR-CLIP	23592263
MIRT485745	hsa-miR-4760-3p	PAR-CLIP	23592263
MIRT485744	hsa-miR-8063	PAR-CLIP	23592263
MIRT485743	hsa-miR-4698	PAR-CLIP	23592263
MIRT485742	hsa-miR-4735-5p	PAR-CLIP	23592263
MIRT485741	hsa-miR-4424	PAR-CLIP	23592263
MIRT485740	hsa-miR-520a-5p	PAR-CLIP	23592263
MIRT485739	hsa-miR-525-5p	PAR-CLIP	23592263
MIRT858937	hsa-miR-330-3p	CLIP-seq
MIRT858938	hsa-miR-33a	CLIP-seq
MIRT858939	hsa-miR-33b	CLIP-seq
MIRT858940	hsa-miR-4422	CLIP-seq
MIRT858941	hsa-miR-450b-5p	CLIP-seq
MIRT858942	hsa-miR-507	CLIP-seq
MIRT858943	hsa-miR-513a-3p	CLIP-seq
MIRT858944	hsa-miR-557	CLIP-seq
MIRT858945	hsa-miR-1255a	CLIP-seq
MIRT858946	hsa-miR-1255b	CLIP-seq
MIRT858947	hsa-miR-1910	CLIP-seq
MIRT858948	hsa-miR-3134	CLIP-seq
MIRT858949	hsa-miR-3690	CLIP-seq
MIRT858950	hsa-miR-4254	CLIP-seq
MIRT858951	hsa-miR-4534	CLIP-seq
MIRT858952	hsa-miR-4653-3p	CLIP-seq
MIRT1954982	hsa-miR-340	CLIP-seq
MIRT858949	hsa-miR-3690	CLIP-seq
MIRT858950	hsa-miR-4254	CLIP-seq
MIRT1954983	hsa-miR-4328	CLIP-seq
MIRT858952	hsa-miR-4653-3p	CLIP-seq
MIRT2192690	hsa-miR-1245	CLIP-seq
MIRT2192691	hsa-miR-1343	CLIP-seq
MIRT2192692	hsa-miR-2392	CLIP-seq
MIRT2192693	hsa-miR-24	CLIP-seq
MIRT2192694	hsa-miR-3192	CLIP-seq
MIRT2192695	hsa-miR-3198	CLIP-seq
MIRT2192696	hsa-miR-3605-5p	CLIP-seq
MIRT2192697	hsa-miR-3689a-3p	CLIP-seq
MIRT2192698	hsa-miR-3689c	CLIP-seq
MIRT2192699	hsa-miR-4276	CLIP-seq
MIRT2192700	hsa-miR-4284	CLIP-seq
MIRT2192701	hsa-miR-4309	CLIP-seq
MIRT2192702	hsa-miR-4434	CLIP-seq
MIRT2192703	hsa-miR-4516	CLIP-seq
MIRT2192704	hsa-miR-4531	CLIP-seq
MIRT858951	hsa-miR-4534	CLIP-seq
MIRT2192705	hsa-miR-4728-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	IEA
GO:0001540	Function	Amyloid-beta binding	IDA	22500019
GO:0001635	Function	Calcitonin gene-related peptide receptor activity	IDA	38603770
GO:0001635	Function	Calcitonin gene-related peptide receptor activity	IPI	14722252
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004948	Function	Calcitonin receptor activity	IBA
GO:0004948	Function	Calcitonin receptor activity	IDA	7588285, 35324283
GO:0004948	Function	Calcitonin receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	7588285, 14722252, 22500019
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	7588285, 7619207
GO:0005886	Component	Plasma membrane	TAS
GO:0005929	Component	Cilium	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	17110384
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	7619207, 14722252, 15563840, 35324283, 38603770
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IGI	22500019
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	NAS	1331173
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IBA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IDA	8078488
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0010628	Process	Positive regulation of gene expression	IGI	22500019
GO:0016020	Component	Membrane	IEA
GO:0030279	Process	Negative regulation of ossification	IEA
GO:0030316	Process	Osteoclast differentiation	IEA
GO:0030424	Component	Axon	IBA
GO:0032841	Function	Calcitonin binding	IDA	15563840
GO:0032841	Function	Calcitonin binding	IDA	7769107, 8078488
GO:0032841	Function	Calcitonin binding	IPI	7588285, 8078488, 15563840
GO:0043488	Process	Regulation of mRNA stability	IEA
GO:0050850	Process	Positive regulation of calcium-mediated signaling	IGI	22500019
GO:0051384	Process	Response to glucocorticoid	IDA	11250927
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI	22500019
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IGI	22500019
GO:0097642	Function	Calcitonin family receptor activity	IDA	35324283
GO:0097643	Function	Amylin receptor activity	IDA	35324283
GO:0097643	Function	Amylin receptor activity	IGI	22500019
GO:0097643	Function	Amylin receptor activity	IPI	14722252
GO:0097646	Process	Calcitonin family receptor signaling pathway	IDA	35324283
GO:0097647	Process	Amylin receptor signaling pathway	IDA	14722252, 35324283
GO:0097647	Process	Amylin receptor signaling pathway	IGI	22500019
GO:0141163	Process	Positive regulation of cAMP/PKA signal transduction	IGI	22500019
GO:0150056	Component	Amylin receptor complex 1	IDA	22500019
GO:0150057	Component	Amylin receptor complex 2	IDA	22500019
GO:0150058	Component	Amylin receptor complex 3	IDA	22500019
GO:0150059	Process	Amylin receptor 1 signaling pathway	IDA	35324283, 38603770
GO:0150060	Process	Amylin receptor 2 signaling pathway	IDA	35324283
GO:0150061	Process	Amylin receptor 3 signaling pathway	IDA	35324283
GO:1904645	Process	Response to amyloid-beta	IGI	22500019
GO:1990408	Process	Calcitonin gene-related peptide receptor signaling pathway	IDA	7588285, 7769107

Other IDs

• MIM: 114131
• HGNC: 1440
• e!Ensembl: ENSG00000004948

Protein

• UniProt ID: P30988
• Protein name: Calcitonin receptor (CT-R)
• Protein function: G protein-coupled receptor activated by ligand peptides amylin (IAPP), calcitonin (CT/CALCA) and calcitonin gene-related peptide type 1 (CGRP1/CALCA) (PubMed:35324283, PubMed:38603770). CALCR interacts with receptor-activity-modifying proteins R
• PDB: 5II0, 5UZ7, 6NIY, 6PFO, 6PGQ, 7TYF, 7TYH, 7TYI, 7TYL, 7TYN, 7TYO, 7TYW, 7TYX, 7TYY, 7TZF, 8F0J, 8F0K, 8F2A, 8F2B, 9AUC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02793	HRM	69 → 137	Hormone receptor domain	Family
  PF00002	7tm_2	145 → 387	7 transmembrane receptor (Secretin family)	Family

• Sequence:

  MRFTFTSRCLALFLLLNHPTPILPAFSNQTYPTIEPKPFLYVVGRKKMMDAQYKCYDRMQ
  QLPAYQGEGPYCNRTWDGWLCWDDTPAGVLSYQFCPDYFPDFDPSEKVTKYCDEKGVWFK
  HPENNRTWSNYTMCNAFTPEKLKNAYVLYYLAIVGHSLSIFTLVISLGIFVFFRSLGCQR
  VTLHKNMFLTYILNSMIIIIHLVEVVPNGELVRRDPVSCKILHFFHQYMMACNYFWMLCE
  GIYLHTLIVVAVFTEKQRLRWYYLLGWGFPLVPTTIHAITRAVYFNDNCWLSVETHLLYI
  IHGPVMAALVVNFFFLLNIVRVLVTKMRETHEAESHMYLKAVKATMILVPLLGIQFVVFP
  WRPSNKMLGKIYDYVMHSLIHFQGFFVATIYCFCNNEVQTTVKRQWAQFKIQWNQRWGRR
  PSNRSARAAAAAAEAGDIPIYICHQEPRNEPANNQGEESAEIIPLNIIEQESSA

• Sequence length: 474

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Hormone signaling
Osteoclast differentiation

Reactome:

G alpha (s) signalling events
Calcitonin-like ligand receptors
ADORA2B mediated anti-inflammatory cytokines production

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
AMENORRHEA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCR-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS LEISHMANIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	7606159		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	31837008		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	27429017, 29115578		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	26221725, 31171903		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	27465041		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of rectum	Adenocarcinoma Of Rectum	BEFREE	27672742		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	30246353, 30708133		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	29750173		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	29115893		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	30479743		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	29858023, 30864463		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	30795801		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30479743		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	9630166, 9862695		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29161369, 31811440		★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	BEFREE	30761919		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28565882		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	23879689		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	26895962, 29084126	Associate	★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	10620070	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28228150, 28501939		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10860825, 1322087, 14997041, 16525628, 1655943, 27788031, 29151967, 30404664, 31365118, 7750484		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	6309149	Associate	★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	29278718		★☆☆☆☆ Found in Text Mining only
Calcium Metabolism Disorders	Calcium Metabolism Disorders	BEFREE	7789182		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	23879689		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22516052, 27270317, 28916844		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28177435	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	1331173, 21570711, 27270317, 31509615		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28251724, 28846805, 29697764, 29915621, 31147194		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	11941898, 30103017, 31109689		★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	31072662		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	29067533		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	30067866		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	23715898, 29099271, 30217165		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	23715898, 29099271, 30217165		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	30382603		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	36142453	Associate	★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	27886920		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	27629147, 28833735		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30774324		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26537064, 27519478		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	29466958		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23736534, 27338764, 27862715, 27886920, 28003221, 28383431, 28427578, 28653309, 28688704, 28846805, 29086228, 29151496, 29525386, 29625702, 29697764, 29797055, 30348145, 30592353, 31241241, 31350836, 31353158, 31359595, 31479745		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29578185		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30858448		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30858448		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30858448		★☆☆☆☆ Found in Text Mining only
Creatine deficiency, X-linked	Creatine deficiency	BEFREE	27466184		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	31557250		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	11799280		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	22380539, 31176015		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28064113		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	28727277		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27862715, 29625702		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	26895962, 28614667	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27862715, 29625702		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28318105, 28433710		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28599667		★☆☆☆☆ Found in Text Mining only
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	28427578, 30874886		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	28666011		★☆☆☆☆ Found in Text Mining only
Endocarditis	Endocarditis	BEFREE	31151718		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28938593, 29844817		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	28228150		★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	29115893		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	22214381, 27001344, 27429017, 28767597, 29343986, 30311162, 30447937, 30867781, 31222680		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	22214381, 27001344, 27429017, 28767597, 29343986, 30311162, 30447937, 30867781, 31222680		★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	BEFREE	25784564		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	29502232		★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	BEFREE	28304143		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	7769107		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28501939, 29263181, 29374810, 30777055		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30777055	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28501939, 29263181, 29374810, 30777055		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28501939, 29263181		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	29115893		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	22905158		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	28091874, 29256329, 29895020, 31109689		★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	BEFREE	28863179		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	23736534, 27338764, 27862715, 28003221, 28383431, 28427578, 28653309, 28688704, 28846805, 29086228, 29151496, 29525386, 29625702, 29697764, 29797055, 30348145, 30592353, 31241241, 31350836, 31359595, 31479745		★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	BEFREE	29466958		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	28653724		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Pancreatitis	Pubtator	37603299	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	30246353, 30708133		★☆☆☆☆ Found in Text Mining only
Humoral hypercalcemia of malignancy (disorder)	Humoral Hypercalcemia Of Malignancy	BEFREE	29277692		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	CTD_human_DG	18627265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalcemia	Hypercalcemia	BEFREE	7789182		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	24614111		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	28973536, 29106577		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	28973536		★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	29383408		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30067866		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31557250		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27466184, 30635645		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	28433710		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	28433710	Inhibit	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	28433710		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	31557250		★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	29627954, 29697764, 31165517		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	12375338		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	15856322, 28435134		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	27009268		★☆☆☆☆ Found in Text Mining only
Left Bundle-Branch Block	Left Bundle-Branch Block	BEFREE	27885751, 27989791, 28416247, 28427578, 28608184, 28688704, 29064041, 29625702, 30538769, 31492516		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	8543584	Associate	★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	20631178		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	29496061		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28676383, 29098144, 29507693, 30062844, 31374039		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	28863179		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	29800456		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37891619	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28565882		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	32454166	Inhibit	★☆☆☆☆ Found in Text Mining only
Macular retinal edema	Macular edema	BEFREE	28266152		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	28501939, 30777055		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	28091874, 29256329, 31109689		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10860825, 14997041, 16525628, 1655943, 27788031, 29151967, 30404664, 31365118, 7750484, 9399657		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29844817		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	22214381, 27001344, 27429017, 28767597, 28893415, 29343986, 30311162, 30447937, 30867781, 31222680		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22516052, 27270317, 28916844		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	29496061		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	1331173, 21570711, 25927922, 27270317, 31509615		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30333867		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14612551, 17487556, 19001380, 22385796, 23075580, 28013228, 28373447, 29052565, 29151227, 30053596, 31694438, 31721011, 31808397		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19050968, 31118042		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	28960621		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	23879689		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25927922, 25963547, 28304143, 28974414, 29263181, 30929105, 31171903, 31468151		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	23715898, 29099271, 30217165		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	31656644		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	28929017, 8143880, 9510122		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28064113		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	22751104		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28666011		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	30858448	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28383431		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	28233915		★☆☆☆☆ Found in Text Mining only
Milk-Alkali Syndrome	Milk-Alkali Syndrome	CTD_human_DG	18627265		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	29496061	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	17714780		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	9973484		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	27757734		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28329280		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	37354016	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28055973, 28342002, 28515352, 28943965, 29100451, 29344223, 29389048, 29718841, 29885997, 30864463, 31200353, 31737097		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	28216622	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17487556, 19470736, 21570711, 22430888, 25409149, 26221725, 27572313, 27672742, 28034064, 28492521, 28621318, 28759121, 28894229, 28929017, 28978067, 29217398, 29263181, 29476017, 30053596, 30223802, 31048664, 31171903, 31516597		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	15856322, 28435134		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	1322087, 15668290, 25288151, 30485136, 30612140		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30635645		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	29100451		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29507693, 29974624		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22516052, 22725681, 27270317, 27797249, 28034064, 29703705, 29858023, 29945024, 30959888, 31809876		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	28666011		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25963547, 28438778, 29278718, 30382603		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	10703936	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	11136533, 11858573, 29262817		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	10865224, 11298188, 12016463, 12771454, 19255718, 23137636, 24522475, 25055932, 29277692, 30498352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	LHGDN	12771454		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	28614667	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31050072		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	1331173, 21570711		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	25927922, 27270317, 31509615		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	1331173	Associate	★☆☆☆☆ Found in Text Mining only
OVERLAP CONNECTIVE TISSUE DISEASE	MASS syndrome	BEFREE	31314788		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30333867		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28261073		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	29161369		★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	25963547		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	30484267		★☆☆☆☆ Found in Text Mining only
Piebaldism	Piebaldism	BEFREE	28228150		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	30138085		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	14612551, 17487556, 19001380, 22385796, 23075580, 28013228, 28373447, 29052565, 29151227, 30053596, 31694438, 31721011, 31808397		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16222118, 19001380, 23820954	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	17487556		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	27510332, 28934968, 30181716, 30359718, 30901357, 31127991, 31229791, 31273449, 31373223, 31702618		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29578185		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	31002820		★☆☆☆☆ Found in Text Mining only
Rhegmatogenous retinal detachment	Rhegmatogenous retinal detachment	BEFREE	31129751		★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	BEFREE	30538769		★☆☆☆☆ Found in Text Mining only
Severe periodontitis	Periodontitis	BEFREE	15490304		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29945024		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	27466184, 30635645		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	27429017		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24907633, 28457536, 29477349, 30395362, 30922343, 31048664		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	30194767		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30211118, 31749055		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19050968, 31118042		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	28449713		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	27629147, 27886920, 29030235, 29186401		★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	30151704		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	28929017		★☆☆☆☆ Found in Text Mining only
Type II Mucolipidosis	Mucolipidosis	BEFREE	28427578, 30874886		★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	BEFREE	31626518		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	29016821, 31241241		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	BEFREE	27886920, 29186401		★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	29383408		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	7789182		★☆☆☆☆ Found in Text Mining only