TERC (telomerase RNA component)

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Gene Gene ontology Other IDs Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 7012
• Gene name: Telomerase RNA component
• Gene symbol: TERC
• Synonyms (NCBI Gene): DKCA1, PFBMFT2, SCARNA19, TER, TR, TRC3, hTR
• Chromosome: 3
• Chromosome location: 3q26.2
• Summary: Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, and an RNA component, encoded by this gene, that serves as

Gene ontology (GO) Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000332	Function	Template for synthesis of G-rich strand of telomere DNA activity	IDA	9398860, 17940095, 19701182
GO:0000333	Component	Telomerase catalytic core complex	IDA	9398860, 9443919, 18082603, 19701182
GO:0000333	Component	Telomerase catalytic core complex	IEA
GO:0000333	Component	Telomerase catalytic core complex	IMP	11313459
GO:0000781	Component	Chromosome, telomeric region	IMP	26950371
GO:0003720	Function	Telomerase activity	IDA	9398860, 9443919, 16507993, 17940095, 18082603, 19701182
GO:0003720	Function	Telomerase activity	IEA
GO:0003720	Function	Telomerase activity	IMP	11313459
GO:0003720	Function	Telomerase activity	TAS	23474713
GO:0003964	Function	RNA-directed DNA polymerase activity	IDA	19701182
GO:0005515	Function	Protein binding	IPI	10757788, 15857955, 17940095, 18082603, 20351177, 22527283, 26482878, 26950371
GO:0005697	Component	Telomerase holoenzyme complex	IC	16507993
GO:0005697	Component	Telomerase holoenzyme complex	IPI	19701182
GO:0005737	Component	Cytoplasm	IMP	26950371
GO:0007004	Process	Telomere maintenance via telomerase	IDA	9443919, 17940095, 19701182
GO:0007004	Process	Telomere maintenance via telomerase	IEA
GO:0015030	Component	Cajal body	IDA	26950371
GO:0015030	Component	Cajal body	IMP	25467444
GO:0044877	Function	Protein-containing complex binding	IPI	15824061
GO:0070182	Function	DNA polymerase binding	IPI	16507993, 17940095, 18082603, 19701182, 20351177
GO:0071456	Process	Cellular response to hypoxia	IMP	11313459
GO:0071987	Function	WD40-repeat domain binding	IPI	25467444
GO:0090661	Component	Box H/ACA telomerase RNP complex	IDA	10757788, 18082603
GO:0090661	Component	Box H/ACA telomerase RNP complex	TAS	22527283
GO:2000773	Process	Negative regulation of cellular senescence	IMP	11313459

Other IDs

• MIM: 602322
• HGNC: 11727
• e!Ensembl: ENSG00000270141

Interactions View interactions

Pathways

KEGG Pathway

Pathways in cancer

Hepatocellular carcinoma

Gastric cancer

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
Aplastic anemia	Pathogenic	rs199422265, rs199422270, rs199422283	RCV000032581 RCV000032556 RCV000032574	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskeratosis congenita, autosomal dominant 1	Likely pathogenic; Pathogenic	rs2474262453, rs1553915517, rs199422284, rs199476393, rs199422277, rs199422270, rs199422263, rs1553915577, rs1553915591, rs1553915580, rs1553915590, rs199422255, rs199422274, rs199422264, rs199422266, rs199422267, rs1751515631, rs1751515079, rs1777964165, rs1751472744	RCV003008403 RCV000007743 RCV000007744 RCV000007745 RCV000032564 RCV001214506 RCV000023192 RCV000500627 RCV000503728 RCV001375864 RCV005252940 RCV000032557 RCV000032561 RCV000032579 RCV000032582 RCV000032583 RCV001172442 RCV001172443 RCV001222798 RCV001249192	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Interstitial lung disease 2	Pathogenic	rs199422268	RCV000032584	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2	Pathogenic; Likely pathogenic	rs199422277, rs199422265, rs199422270, rs199422268, rs1777959964, rs1553915580, rs1553915612, rs1553915617, rs1553915621, rs2108183105, rs199422274	RCV000007746 RCV000007748 RCV000007749 RCV000007751 RCV000007752 RCV000677352 RCV000677351 RCV000677350 RCV000677349 RCV000030634 RCV001610304	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TERC-related disorder	Likely pathogenic	rs2108183267	RCV004728835	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Dyskeratosis congenita	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary fibrosis	Uncertain significance; Likely risk allele; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Telomere syndrome	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (258)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	26765095		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28282218		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	27632567		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	16847471		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	31326317		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	28888037		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	12970299, 14709792		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	BEFREE	24489901, 30219229		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	26026117		★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	BEFREE	26026117		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	26026117		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	18414473, 28082393	Associate	★☆☆☆☆ Found in Text Mining only
Alveolitis Extrinsic Allergic	Extrinsic allergic alveolitis	Pubtator	34996848	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	15238429	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	12676774, 15319288, 15814878, 15886322, 17640862, 21436073, 21931702	Associate	★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	24948335	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30325019		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	LHGDN	12676774, 15319288, 16990594, 17640862		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aplastic Anemia	Aplastic anemia	BEFREE	15319288, 16825992, 17663679, 19942288, 30552465		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aplastic Anemia	Aplastic anemia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aplastic anemia, idiopathic	Anemia	ORPHANET_DG	12090986		★☆☆☆☆ Found in Text Mining only
Aplastic anemia, idiopathic	Anemia	BEFREE	15326392		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	29344960	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	9094971		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	LHGDN	17098743		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	12192616, 30074224		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	28282218		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30120764		★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	12676774, 15886322, 19936245, 21436073, 21931702, 22507770, 24948335	Associate	★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	18387137		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16841302, 22847419, 23677713, 28424414, 30397354		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23677713, 25135691, 28424414, 30397354	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	11092980, 20813962, 9736034, 9914788	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20864639	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11230706, 12118320, 19880826, 9070649, 9713339		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	10674027, 24020493, 35682861, 35894385	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	16734859, 30120764		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	22463766		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11940351		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	20009881, 25806711	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	22449406		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	28057933	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	21597243, 29487007, 31685833, 9736034		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	19191295, 19930867, 20009881, 30675277		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	21597243, 29487007, 31685833, 9736034		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	22390679		★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	BEFREE	24489901, 29855113, 30219229		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	15917349, 21289002		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27197291, 28282218		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	21520174, 26999107		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Classical Lissencephalies and Subcortical Band Heterotopias	Lissencephaly	Pubtator	30931479	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	23933276		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31846381		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21708826, 26621817		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15682468, 21708826	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	21289002		★☆☆☆☆ Found in Text Mining only
Congenital thrombocytopenia	Congenital thrombocytopenia	BEFREE	26554871		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	27540018		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28282218		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	24349443		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	24349443		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	24349443, 27707805, 36221106	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	24349443, 24530766, 27707805		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	24462335, 27810892, 28645747		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	31294790	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32296102	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24349443, 31294790		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28929122		★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	BEFREE	9094971		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22772461		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	GENOMICS_ENGLAND_DG	11574891, 12090986, 12525685, 28297620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis Congenita	Dyskeratosis Congenita	LHGDN	12525685, 15098033, 15319288, 15753647, 16332973, 16990594, 17625368, 17640862, 19095616		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	12676774, 12769858, 14602909, 15238429, 15319288, 15886322, 16332973, 17468339, 17507419, 17640862, 17875000, 18931339, 19036115, 19558498, 21436073, 21536674, 21931702, 22341970, 22507770, 26859482, 30728146, 30931479, 32559291, 32744739, 36018809	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	15098033, 15326392, 15886322, 15917199, 16470156, 17381549, 17468339, 17507419, 17785587, 18931339, 19036115, 19558498, 20164838, 22341970, 25237198, 25455995, 29161159, 29880812, 30210531, 30728146		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis Congenita	Dyskeratosis Congenita	CTD_human_DG	17785587		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis congenita	Dyskeratosis Congenita	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis Congenita	Dyskeratosis Congenita	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis Congenita Autosomal Dominant	Dyskeratosis congenita	Pubtator	12676774, 15319288, 16284252, 17392301, 17640862, 17785587, 17875000, 18042801, 19835419	Associate	★☆☆☆☆ Found in Text Mining only
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	Dyskeratosis Congenita	BEFREE	15319288, 16284252, 16825992, 17875000, 18042801, 23661544		★☆☆☆☆ Found in Text Mining only
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	Dyskeratosis Congenita	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1	Dyskeratosis Congenita	GENOMICS_ENGLAND_DG	11574891, 12090986, 22285015, 22341970		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1	Dyskeratosis Congenita	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dystonic Disorders	Dystonia	Pubtator	18635888	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	21515911		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26621817		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	15823123	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	21597243, 23634750, 24983628		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	21597243, 23634750, 24983628		★☆☆☆☆ Found in Text Mining only
Esophageal Stenosis	Esophageal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	32922179	Associate	★☆☆☆☆ Found in Text Mining only
Exudative retinopathy	Exudative retinopathy	BEFREE	29161159		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	14621192		★☆☆☆☆ Found in Text Mining only
Familial Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	17392301, 17460043, 23535734		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	15339688, 15814878		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	15339688		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	24948335	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24908248, 26646793	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24908248, 26014050, 26017031, 26646793		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	28282218		★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	28282218		★☆☆☆☆ Found in Text Mining only
Hamman-Rich Disease	Diffuse interstitial pulmonary fibrosis	CTD_human_DG	17392301, 17460043, 23535734		★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	ORPHANET_DG	17392301, 18753630		★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	BEFREE	27540018		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	21593138		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	33763035	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	20022961	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	24641422		★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	12676774	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobinuria, Paroxysmal	Paroxysmal Hemoglobinuria	LHGDN	12676774		★☆☆☆☆ Found in Text Mining only
Honeycomb lung	Honeycomb lung	HPO_DG			★☆☆☆☆ Found in Text Mining only
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	GENOMICS_ENGLAND_DG	12525685		★☆☆☆☆ Found in Text Mining only
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	BEFREE	12833411		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	10329353		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic aplastic anemia	Aplastic Anemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	17392301, 17460043, 23535734		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	ORPHANET_DG	17392301, 18753630		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	17392301, 18753630, 21436073, 21543794, 27836952, 28066036, 29742735	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary fibrosis	Pulmonary Fibrosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	23535734, 24067943, 24993703, 27540018, 27630174, 29804726, 29891356, 31426295		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	19844076		★☆☆☆☆ Found in Text Mining only
Inherited bone marrow failure syndrome	Inherited Bone Marrow Failure Syndrome	BEFREE	17468339		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	9119736	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28057933		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	16820866	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	22463766	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	17640862	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27632567	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23157242, 28282218		★☆☆☆☆ Found in Text Mining only
Leukocyte Disorders	Leukocyte disorders	Pubtator	31388112	Associate	★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	9715272		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	18414473	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26999107, 28813500, 9425903		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	21520174, 22507770, 26999107		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	22507770	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	19936245	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	17640862	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	26518879		★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	27540018	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	20121548		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	20121548		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	10969793, 17912434, 24908248, 26017031		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	21593138		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16841302, 22847419, 23677713, 28424414, 30397354		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	26621817		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	21597243, 23634750, 24983628		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11940351, 14581340, 27459707		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25940397		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10822370, 28888037		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	16520278		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	CTD_human_DG	16051514		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	16734859, 30120764		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12118320, 14621192, 16682501, 19880826, 20813962, 20864639, 22772461, 22847419, 24641422, 25066524, 28888037, 30675277, 9094971		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	21597243, 29487007, 31685833, 9736034		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28424414		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10655201	Stimulate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12135464, 30429480		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24129253	Associate	★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	15329831		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	24462335, 27810892, 28645747		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	26026117		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	19880826	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	14559802		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	31294790		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	31294790	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	17663679		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	16825992, 17663679, 22533337, 24948335		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	12676774, 22533337, 24948335	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	24641422		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	11836556		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10440682, 10655201, 12118320, 12970299, 14581340, 15925089, 17912434, 20121548, 20864639, 23317107, 26017031, 9094971		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	10969793		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	12676774, 17640862	Associate	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	15329831		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	LHGDN	15329831		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	26026117		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	14581340, 24067943, 31837325		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	GWASCAT_DG	31326317		★☆☆☆☆ Found in Text Mining only
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	36143917	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type VII	Osteogenesis imperfecta	Pubtator	30371886	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	20885959, 32016954	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	20885959		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	12496479		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	11238060, 12496479, 15477760	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25940397		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	12918126	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	15326392, 16825992, 18931339, 22507770		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	22304389		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	12970299, 14709792		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	29102762		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	30685566		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	28282218		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	30210531		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	23933276		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10822370, 28888037		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	16520278		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31611308, 33303959	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	17392301, 17640862, 19936245, 20022961, 22507770, 27836952, 30930056	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	18635888, 23526226, 26022962, 27540018, 27836952		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2	Pulmonary fibrosis and/or bone marrow failure	GENOMICS_ENGLAND_DG	12090986, 17392301, 27069254		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2	Pulmonary fibrosis and/or bone marrow failure	CLINVAR_DG	29483670		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2	Pulmonary fibrosis and/or bone marrow failure	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28282218		★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	20683395	Stimulate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15893580, 19352591, 27974147		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	23494654		★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	16051514		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	20009881, 21597243		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23317107, 23634750		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26175310, 27606879	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	26928440		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	27606879		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	11092980, 12046065, 9119736, 9914776	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	12174094		★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	22323451, 26482878, 27482890, 30371886, 34565437, 34817067	Associate	★☆☆☆☆ Found in Text Mining only
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	Thyroid Hormone Resistance	BEFREE	8421105		★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Thyroid Hormone Resistance	BEFREE	8421105		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	28195142	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue Neoplasms	CTD_human_DG	16051514		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	20920335, 30120764	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35127956	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	14507648, 19930867, 20009881, 20683395, 20864639	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	15793301, 19880826, 20683395, 22901172, 9736034	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	29344960		★☆☆☆☆ Found in Text Mining only
X-Linked Dyskeratosis Congenita	Dyskeratosis Congenita, X-Linked	BEFREE	12833411		★☆☆☆☆ Found in Text Mining only
X-Linked Dyskeratosis Congenita	Dyskeratosis Congenita, X-Linked	CTD_human_DG	17785587		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

CSNK1A1L 2 shared pathwaysHepatocellular carcinoma, Gastric cancer Related via 2 shared pathways including Hepatocellular carcinoma, Gastric cancer. TERT 2 shared pathwaysHepatocellular carcinoma, Gastric cancer Related via 2 shared pathways including Hepatocellular carcinoma, Gastric cancer. FRAT1 2 shared pathwaysHepatocellular carcinoma, Gastric cancer Related via 2 shared pathways including Hepatocellular carcinoma, Gastric cancer. FRAT2 2 shared pathwaysHepatocellular carcinoma, Gastric cancer Related via 2 shared pathways including Hepatocellular carcinoma, Gastric cancer. LRP6 2 shared pathwaysHepatocellular carcinoma, Gastric cancer Related via 2 shared pathways including Hepatocellular carcinoma, Gastric cancer.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CSNK1A1L	0	[]	2	["Hepatocellular carcinoma","Gastric cancer"]	0	[]
TERT	0	[]	2	["Hepatocellular carcinoma","Gastric cancer"]	0	[]
FRAT1	0	[]	2	["Hepatocellular carcinoma","Gastric cancer"]	0	[]
FRAT2	0	[]	2	["Hepatocellular carcinoma","Gastric cancer"]	0	[]
LRP6	0	[]	2	["Hepatocellular carcinoma","Gastric cancer"]	0	[]

Diseases Linked via Similar Genes

Coronary artery disease Linked via 2 of 5 related genesTERT, LRP6 Gallstones Linked via 2 of 5 related genesTERT, FRAT2 Diabetes mellitus type 2 Linked via 2 of 5 related genesFRAT1, FRAT2 Myeloid leukemia Linked via 1 of 5 related genesTERT Aplastic anemia Linked via 1 of 5 related genesTERT

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Coronary artery disease	2	["TERT","LRP6"]
Gallstones	2	["TERT","FRAT2"]
Diabetes mellitus type 2	2	["FRAT1","FRAT2"]
Myeloid leukemia	1	["TERT"]
Aplastic anemia	1	["TERT"]