RIPK3 (receptor interacting serine/threonine kinase 3)

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

Gene

• Entrez ID: 11035
• Gene name: Receptor interacting serine/threonine kinase 3
• Gene symbol: RIPK3
• Synonyms (NCBI Gene): RIP3
• Chromosome: 14
• Chromosome location: 14q12
• Summary: The product of this gene is a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases, and contains a C-terminal domain unique from other RIP family members. The encoded protein is predominantly localized to the cytopla

Gene ontology (GO) Show/Hide all (87)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001914	Process	Regulation of T cell mediated cytotoxicity	IEA
GO:0001914	Process	Regulation of T cell mediated cytotoxicity	ISS
GO:0002819	Process	Regulation of adaptive immune response	IEA
GO:0002819	Process	Regulation of adaptive immune response	ISS
GO:0003713	Function	Transcription coactivator activity	TAS	10339433
GO:0004672	Function	Protein kinase activity	IBA
GO:0004672	Function	Protein kinase activity	IDA	22265413
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	IMP	22817896, 29883609
GO:0004672	Function	Protein kinase activity	TAS	10358032
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	19524513
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IMP	22265414
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	10339433
GO:0005515	Function	Protein binding	IPI	19524512, 19524513, 19590578, 21887730, 21931591, 22265413, 22265414, 22817896, 26559832, 29883609, 30185776, 33348174, 37089942
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	30271893
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	22265413
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	10339433
GO:0009893	Process	Positive regulation of metabolic process	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0012501	Process	Programmed cell death	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032147	Process	Activation of protein kinase activity	IMP	22817896
GO:0032649	Process	Regulation of type II interferon production	IEA
GO:0032649	Process	Regulation of type II interferon production	ISS
GO:0032991	Component	Protein-containing complex	IDA	22817896
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033077	Process	T cell differentiation in thymus	ISS
GO:0036211	Process	Protein modification process	TAS	10358032
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IEA
GO:0042802	Function	Identical protein binding	IPI	22817896
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0042981	Process	Regulation of apoptotic process	ISS
GO:0043029	Process	T cell homeostasis	IEA
GO:0043029	Process	T cell homeostasis	ISS
GO:0044877	Function	Protein-containing complex binding	IMP	22265414
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0046006	Process	Regulation of activated T cell proliferation	IEA
GO:0046006	Process	Regulation of activated T cell proliferation	ISS
GO:0048535	Process	Lymph node development	IEA
GO:0048535	Process	Lymph node development	ISS
GO:0048536	Process	Spleen development	IEA
GO:0048536	Process	Spleen development	ISS
GO:0048538	Process	Thymus development	IEA
GO:0048538	Process	Thymus development	ISS
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	21931591
GO:0051607	Process	Defense response to virus	IEA
GO:0051607	Process	Defense response to virus	ISS
GO:0060545	Process	Positive regulation of necroptotic process	IDA	22265414
GO:0060545	Process	Positive regulation of necroptotic process	IEA
GO:0060545	Process	Positive regulation of necroptotic process	IMP	22817896
GO:0070235	Process	Regulation of activation-induced cell death of T cells	IEA
GO:0070235	Process	Regulation of activation-induced cell death of T cells	ISS
GO:0070266	Process	Necroptotic process	IEA
GO:0070266	Process	Necroptotic process	IMP	21737330, 29883609
GO:0070266	Process	Necroptotic process	TAS
GO:0070301	Process	Cellular response to hydrogen peroxide	IEA
GO:0070301	Process	Cellular response to hydrogen peroxide	ISS
GO:0072593	Process	Reactive oxygen species metabolic process	IEA
GO:0097190	Process	Apoptotic signaling pathway	TAS	10339433
GO:0097300	Process	Programmed necrotic cell death	IEA
GO:0097300	Process	Programmed necrotic cell death	ISS
GO:0097527	Process	Necroptotic signaling pathway	IDA	22265413
GO:0097527	Process	Necroptotic signaling pathway	IMP	22265413, 22817896
GO:0097528	Process	Execution phase of necroptosis	IDA	24316671
GO:0097528	Process	Execution phase of necroptosis	IEA
GO:0097528	Process	Execution phase of necroptosis	ISS
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1990000	Process	Amyloid fibril formation	IMP	22817896
GO:2000377	Process	Regulation of reactive oxygen species metabolic process	IEA
GO:2000379	Process	Positive regulation of reactive oxygen species metabolic process	IEA
GO:2000452	Process	Regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation	IEA
GO:2000452	Process	Regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation	ISS
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IEA

Other IDs

• MIM: 605817
• HGNC: 10021
• e!Ensembl: ENSG00000129465

Protein

• UniProt ID: Q9Y572
• Protein name: Receptor-interacting serine/threonine-protein kinase 3 (EC 2.7.11.1) (RIP-like protein kinase 3) (Receptor-interacting protein 3) (RIP-3)
• Protein function: Serine/threonine-protein kinase that activates necroptosis and apoptosis, two parallel forms of cell death (PubMed:19524512, PubMed:19524513, PubMed:22265413, PubMed:22265414, PubMed:22421439, PubMed:29883609, PubMed:32657447). Necroptosis, a pr
• PDB: 5V7Z , 5ZCK , 7DA4 , 7DAC , 7MON , 7MX3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12721	RHIM	417 → 468	RIP homotypic interaction motif	Family
  PF00069	Pkinase	21 → 283	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in the pancreas. Detected at lower levels in heart, placenta, lung and kidney. {ECO:0000269|PubMed:15896315}.; TISSUE SPECIFICITY: [Isoform 3]: Expression is significantly increased in colon and lung cancers. {ECO:0000
• Sequence:

  MSCVKLWPSGAPAPLVSIEELENQELVGKGGFGTVFRAQHRKWGYDVAVKIVNSKAISRE
  VKAMASLDNEFVLRLEGVIEKVNWDQDPKPALVTKFMENGSLSGLLQSQCPRPWPLLCRL
  LKEVVLGMFYLHDQNPVLLHRDLKPSNVLLDPELHVKLADFGLSTFQGGSQSGTGSGEPG
  GTLGYLAPELFVNVNRKASTASDVYSFGILMWAVLAGREVELPTEPSLVYEAVCNRQNRP
  SLAELPQAGPETPGLEGLKELMQLCWSSEPKDRPSFQECLPKTDEVFQMVENNMNAAVST
  VKDFLSQLRSSNRRFSIPESGQGGTEMDGFRRTIENQHSRNDVMVSEWLNKLNLEEPPSS
  VPKKCPSLTKRSRAQEEQVPQAWTAGTSSDSMAQPPQTPETSTFRNQMPSPTSTGTPSPG
  PRGNQGAERQGMNWSCRTPEPNPVTGRPLVNIYNCSGVQVGDNNYLTMQQTTALPTWGLA
  PSGKGRGLQHPPPVGSQEGPKDPEAWSRPQGWYNHSGK

• Sequence length: 518

Pathways

KEGG Pathway	Reactome Pathway
Necroptosis	TICAM1, RIP1-mediated IKK complex recruitment
NOD-like receptor signaling pathway	RIP-mediated NFkB activation via ZBP1
Cytosolic DNA-sensing pathway	TRIF-mediated programmed cell death
TNF signaling pathway	TRP channels
Salmonella infection	RIPK1-mediated regulated necrosis
	TLR3-mediated TICAM1-dependent programmed cell death
	IKK complex recruitment mediated by RIP1

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 Show/Hide Unknown Diseases (6)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CALCINOSIS	—	CTD	21335463	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	26769846	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASES	—	CTD	21335463	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE PROLAPSE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (150)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	31205096		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	27834956		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	28315674, 29859191, 31375658		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	25888634, 30906746		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30906746		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27834956		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34625123	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29681455		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27493188, 31745214		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	25563840, 30842407		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	24556404, 29286079		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28978351, 29434332, 31086261		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	24556404, 29286079		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	29286079	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	30083334		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29212904		★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome Type 2B	Autoimmune Lymphoproliferative Disorder	BEFREE	29666472		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28401933		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	28724891		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24909514, 25952668, 28507808		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24909514	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	30281332		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35264437	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30583075, 31177396, 31388311		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27362805, 30185776, 33786632	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25888634	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	29616016, 31386965		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	31386965	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	31148336	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	29686306		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	27834956		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	31914150, 33036630, 34083572, 37513508	Associate	★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	28454582		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29415885		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22157808		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	30814594		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	31082470		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	26982364, 28256024, 29560122, 31281505		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	31431023	Stimulate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25675296, 29487701, 31281505		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28476895, 30012671, 30029665, 31281505		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	30996211		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28454582, 31148336, 31328381		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30215665		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31205096		★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Sporadic	Creutzfeldt-Jakob disease	BEFREE	30399321		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	21921917		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	31281505		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	33795639	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31074472		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	30599260		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	37083451	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	24959694, 29331417		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	24959694, 29331417		★☆☆☆☆ Found in Text Mining only
Fatal Familial Insomnia	Fatal Insomnia	BEFREE	30399321		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	CTD_human_DG	26769846		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	BEFREE	30793717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Disease	Fatty Liver	BEFREE	31760070		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	24434512		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30237126, 31295018		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	25416676		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22033613, 27984090		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22033613, 27984090		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28108311, 28816233		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	31148336, 31386965	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	28454582, 31148336, 35805993	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31148336, 31328381		★☆☆☆☆ Found in Text Mining only
Heart Neoplasm	Cardiac Neoplasms	BEFREE	30562734		★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	CTD_human_DG	21335463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhage	Hemorrhage	Pubtator	35699825	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	29518608		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35164651	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29444413, 31601679		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29470982		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	24322838, 30012671		★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	30786994		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31440386		★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	30680829		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	26817517, 29500402, 29550818, 29588419, 29860048, 29875323, 31253195, 31257491		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27411587		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27748372	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25144719, 27411587, 27748372		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31021443		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	30596105		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	30996211		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	35164651	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15896315		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	38126996	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	31133359, 31187539		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	31133359		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24909514, 25952668, 28507808		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	24959694, 29331417		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30583075, 31177396		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	25356865		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29312502		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25952668, 28476895, 28981102, 30012671, 30157175, 31281505		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25675296, 29487701, 31281505		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26355347, 28507808		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	26355347, 34072104	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	26355347		★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	31088100, 31129968		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	40508046	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	31719677		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	26038570, 30743213, 31248365, 31387543		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30215665		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	31386965		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	22421439, 24336085, 25412314, 25748555	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16435073, 24507727, 27129149, 27362805, 28087739, 28151480, 28564603, 28981102, 30157175, 30562734, 30683914, 30786994, 30906746, 31227597, 31281505		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29681455, 31391333		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C1	Sphingomyelinase deficiency	BEFREE	26986514		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30622377		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29619976		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	30793717		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	19690434		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	28933271		★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	BEFREE	31719149		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	27129149, 29407229		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	40332549	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25356865, 27050456	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29312502		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31999765, 34462421	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	28315674, 28703808		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31506635, 31690718		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31758083		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	30144553		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	30611988		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25412314, 33282964, 35965682	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29444413, 31601679		★☆☆☆☆ Found in Text Mining only
Radiation Syndrome	Radiation Syndrome	BEFREE	29634408		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29415885		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	31253195		★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	31148336	Associate	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	31386965	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27524612, 28428949, 29137405, 29616016, 31253195		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	30185776		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	16435073, 30562734		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	25888634		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29331417		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33108350	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28863321, 31089833		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CTD_human_DG	26769846		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30622377, 30793717		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31739592	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	28579326, 28744127, 30114640, 31082470, 31370690		★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	29883609, 30269743		★☆☆☆☆ Found in Text Mining only
Tumoral calcinosis	Tumoral Calcinosis	CTD_human_DG	21335463		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28256024, 31431023		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	25888634	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29633982		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	27431004	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

SPN 3 shared diseasesCalcinosis, Heart valve disease, Heart valve prolapse 4 shared evidence sourcesCTD (Calcinosis), Disgenet (Heart valve disease), CTD (Heart valve disease), Disgenet (Heart valve prolapse) Related via 3 shared diseases including Calcinosis, Heart valve disease — evidence mostly CTD. DHRS7 2 shared diseasesFatty liver, Fatty liver, alcoholic 3 shared evidence sourcesDisgenet (Fatty liver), CTD (Fatty liver), Disgenet (Fatty liver, alcoholic) Related via 2 shared diseases including Fatty liver, Fatty liver, alcoholic — evidence mostly Disgenet. HAS3 2 shared diseasesFatty liver, Fatty liver, alcoholic 3 shared evidence sourcesDisgenet (Fatty liver), CTD (Fatty liver), Disgenet (Fatty liver, alcoholic) Related via 2 shared diseases including Fatty liver, Fatty liver, alcoholic — evidence mostly Disgenet. PLIN2 2 shared diseasesFatty liver, Fatty liver, alcoholic 3 shared evidence sourcesDisgenet (Fatty liver), CTD (Fatty liver), Disgenet (Fatty liver, alcoholic) Related via 2 shared diseases including Fatty liver, Fatty liver, alcoholic — evidence mostly Disgenet. HTR2B 4 shared diseasesFatty liver, Fatty liver, alcoholic, Heart valve disease, Heart valve prolapse 5 shared evidence sourcesDisgenet (Fatty liver), Disgenet (Fatty liver, alcoholic), Disgenet (Heart valve disease), CTD (Heart valve disease), Disgenet (Heart valve prolapse) Related via 4 shared diseases including Fatty liver, Fatty liver, alcoholic — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
SPN	3	["Calcinosis","Heart valve disease","Heart valve prolapse"]	0	[]	4	["CTD (Calcinosis)","Disgenet (Heart valve disease)","CTD (Heart valve disease)","Disgenet (Heart valve prolapse)"]
DHRS7	2	["Fatty liver","Fatty liver, alcoholic"]	0	[]	3	["Disgenet (Fatty liver)","CTD (Fatty liver)","Disgenet (Fatty liver, alcoholic)"]
HAS3	2	["Fatty liver","Fatty liver, alcoholic"]	0	[]	3	["Disgenet (Fatty liver)","CTD (Fatty liver)","Disgenet (Fatty liver, alcoholic)"]
PLIN2	2	["Fatty liver","Fatty liver, alcoholic"]	0	[]	3	["Disgenet (Fatty liver)","CTD (Fatty liver)","Disgenet (Fatty liver, alcoholic)"]
HTR2B	4	["Fatty liver","Fatty liver, alcoholic","Heart valve disease","Heart valve prolapse"]	0	[]	5	["Disgenet (Fatty liver)","Disgenet (Fatty liver, alcoholic)","Disgenet (Heart valve disease)","CTD (Heart valve disease)","Disgenet (Heart valve prolapse)"]

Diseases Linked via Similar Genes

Atrial fibrillation Linked via 1 of 5 related genesHAS3 Attention deficit hyperactivity disorder Linked via 1 of 5 related genesHAS3 Stomach neoplasms Linked via 1 of 5 related genesPLIN2 Bardet-biedl syndrome Linked via 1 of 5 related genesHTR2B Cardiomegaly Linked via 1 of 5 related genesHTR2B

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Atrial fibrillation	1	["HAS3"]
Attention deficit hyperactivity disorder	1	["HAS3"]
Stomach neoplasms	1	["PLIN2"]
Bardet-biedl syndrome	1	["HTR2B"]
Cardiomegaly	1	["HTR2B"]