RACK1 (receptor for activated C kinase 1)

Gene

• Entrez ID: 10399
• Gene name: Receptor for activated C kinase 1
• Gene symbol: RACK1
• Synonyms (NCBI Gene): GNB2L1, Gnb2-rs1, H12.3, HLC-7, PIG21
• Chromosome: 5
• Chromosome location: 5q35.3

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001891	Component	Phagocytic cup	IDA	21347310
GO:0001891	Component	Phagocytic cup	IEA
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	11312657, 17108144
GO:0002181	Process	Cytoplasmic translation	NAS	25901680
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005080	Function	Protein kinase C binding	IBA
GO:0005080	Function	Protein kinase C binding	IDA	11279199
GO:0005102	Function	Signaling receptor binding	NAS	12809483
GO:0005515	Function	Protein binding	IPI	10849009, 11046044, 11279199, 11312657, 12809483, 14500341, 17108144, 18057008, 18194455, 18420585, 18816594, 18954305, 19674157, 19785988, 20010870, 20080539, 20103773, 20541605, 20871634, 21098120, 21146485, 21347310, 21525958, 21750715, 21988832, 22210188, 23651062, 23866081, 240
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10849009, 17108144
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	10849009, 19785988, 29743600
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	25901680
GO:0005739	Component	Mitochondrion	IMP	19767770
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IMP	19767770
GO:0005829	Component	Cytosol	TAS
GO:0005840	Component	Ribosome	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006412	Process	Translation	IEA
GO:0006417	Process	Regulation of translation	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007369	Process	Gastrulation	IEA
GO:0008047	Function	Enzyme activator activity	IDA	20819076
GO:0008200	Function	Ion channel inhibitor activity	IEA
GO:0008200	Function	Ion channel inhibitor activity	ISS
GO:0008656	Function	Cysteine-type endopeptidase activator activity involved in apoptotic process	IMP	19767770
GO:0010629	Process	Negative regulation of gene expression	IMP	19451233
GO:0015935	Component	Small ribosomal subunit	IEA
GO:0015935	Component	Small ribosomal subunit	ISS
GO:0016020	Component	Membrane	IEA
GO:0016567	Process	Protein ubiquitination	IMP	28132843
GO:0017148	Process	Negative regulation of translation	ISS
GO:0019899	Function	Enzyme binding	IPI	20819076
GO:0019903	Function	Protein phosphatase binding	IPI	11278757
GO:0022627	Component	Cytosolic small ribosomal subunit	NAS	25901680
GO:0030178	Process	Negative regulation of Wnt signaling pathway	ISS
GO:0030291	Function	Protein serine/threonine kinase inhibitor activity	IMP	20103773
GO:0030292	Function	Protein tyrosine kinase inhibitor activity	IDA	9584165
GO:0030308	Process	Negative regulation of cell growth	IDA	9584165
GO:0030332	Function	Cyclin binding	IPI	15159402
GO:0030335	Process	Positive regulation of cell migration	IDA	20499158
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030496	Component	Midbody	IDA	15166316
GO:0030971	Function	Receptor tyrosine kinase binding	IDA	9584165
GO:0031334	Process	Positive regulation of protein-containing complex assembly	IDA	20541605
GO:0032091	Process	Negative regulation of protein binding	IDA	20541605
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA	19785988
GO:0032880	Process	Regulation of protein localization	ISS
GO:0035591	Function	Signaling adaptor activity	IMP	20103773
GO:0042169	Function	SH2 domain binding	IDA	9584165, 11279199
GO:0042802	Function	Identical protein binding	IPI	24947010, 35271311
GO:0042803	Function	Protein homodimerization activity	IPI	24947010
GO:0042995	Component	Cell projection	IEA
GO:0042998	Process	Positive regulation of Golgi to plasma membrane protein transport	IMP	19674157
GO:0043005	Component	Neuron projection	IEA
GO:0043022	Function	Ribosome binding	IBA
GO:0043022	Function	Ribosome binding	IDA	28132843
GO:0043022	Function	Ribosome binding	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043065	Process	Positive regulation of apoptotic process	IDA	20541605
GO:0043065	Process	Positive regulation of apoptotic process	IMP	19767770
GO:0043204	Component	Perikaryon	IEA
GO:0043473	Process	Pigmentation	IEA
GO:0043547	Process	Positive regulation of GTPase activity	IDA	20499158
GO:0044297	Component	Cell body	IEA
GO:0045182	Function	Translation regulator activity	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IDA	32467643
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	11279199
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0050765	Process	Negative regulation of phagocytosis	IMP	21347310
GO:0051302	Process	Regulation of cell division	ISS
GO:0051434	Function	BH3 domain binding	IDA	20541605
GO:0051726	Process	Regulation of cell cycle	IDA	9584165
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	19767770
GO:0051901	Process	Positive regulation of mitochondrial depolarization	IMP	19767770
GO:0060090	Function	Molecular adaptor activity	TAS	20819076
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071333	Process	Cellular response to glucose stimulus	IDA	20103773
GO:0071363	Process	Cellular response to growth factor stimulus	IDA	20010870
GO:0072344	Process	Rescue of stalled ribosome	IBA
GO:0072344	Process	Rescue of stalled ribosome	IMP	28132843
GO:0106070	Process	Regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP	20819076
GO:1900102	Process	Negative regulation of endoplasmic reticulum unfolded protein response	TAS	22013210
GO:1903751	Process	Negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide	IEA
GO:1903751	Process	Negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide	IGI	24947010
GO:1990630	Component	IRE1-RACK1-PP2A complex	IDA	20103773
GO:1990904	Component	Ribonucleoprotein complex	IEA
GO:2000114	Process	Regulation of establishment of cell polarity	ISS
GO:2000543	Process	Positive regulation of gastrulation	ISS
GO:2001125	Process	Negative regulation of translational frameshifting	IBA
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IMP	19767770

Other IDs

• MIM: 176981
• HGNC: 4399
• e!Ensembl: ENSG00000204628

Protein

• UniProt ID: P63244
• Protein name: Small ribosomal subunit protein RACK1 (Cell proliferation-inducing gene 21 protein) (Guanine nucleotide-binding protein subunit beta-2-like 1) (Guanine nucleotide-binding protein subunit beta-like protein 12.3) (Human lung cancer oncogene 7 protein) (HLC-
• Protein function: Scaffolding protein involved in the recruitment, assembly and/or regulation of a variety of signaling molecules. Interacts with a wide variety of proteins and plays a role in many cellular processes. Component of the 40S ribosomal subunit involv
• PDB: 4AOW, 4UG0, 4V5Z, 4V6X, 5A2Q, 5AJ0, 5FLX, 5LKS, 5OA3, 5T2C, 5VYC, 6FEC, 6G18, 6G51, 6G53, 6G5H, 6G5I, 6IP5, 6IP6, 6IP8, 6OLE, 6OLF, 6OLG, 6OLI, 6OLZ, 6OM0, 6OM7, 6QZP, 6XA1, 6Y0G, 6Y2L, 6Y57, 6YBS, 6Z6L, 6Z6M, 6Z6N, 6ZLW, 6ZM7, 6ZME, 6ZMI, 6ZMO, 6ZMT, 6ZMW, 6ZN5, 6ZOJ, 6ZOL, 6ZON, 6ZP4, 6ZUO, 6ZV6, 6ZVH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	5 → 44	WD domain, G-beta repeat	Repeat
  PF00400	WD40	53 → 91	WD domain, G-beta repeat	Repeat
  PF00400	WD40	95 → 133	WD domain, G-beta repeat	Repeat
  PF00400	WD40	136 → 178	WD domain, G-beta repeat	Repeat
  PF00400	WD40	182 → 220	WD domain, G-beta repeat	Repeat
  PF00400	WD40	224 → 260	WD domain, G-beta repeat	Repeat
  PF00400	WD40	273 → 311	WD domain, G-beta repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: In the liver, expressed at higher levels in activated hepatic stellate cells than in hepatocytes or Kupffer cells. Up-regulated in hepatocellular carcinomas and in the adjacent non-tumor liver tissue. {ECO:0000269|PubMed:18621736}.
• Sequence:

  MTEQMTLRGTLKGHNGWVTQIATTPQFPDMILSASRDKTIIMWKLTRDETNYGIPQRALR
  GHSHFVSDVVISSDGQFALSGSWDGTLRLWDLTTGTTTRRFVGHTKDVLSVAFSSDNRQI
  VSGSRDKTIKLWNTLGVCKYTVQDESHSEWVSCVRFSPNSSNPIIVSCGWDKLVKVWNLA
  NCKLKTNHIGHTGYLNTVTVSPDGSLCASGGKDGQAMLWDLNEGKHLYTLDGGDIINALC
  FSPNRYWLCAATGPSIKIWDLEGKIIVDELKQEVISTSSKAEPPQCTSLAWSADGQTLFA
  GYTDNLVRVWQVTIGTR

• Sequence length: 317

Pathways

KEGG:

Measles

Reactome:

Regulation of TNFR1 signaling
TNFR1-induced NFkappaB signaling pathway
TNFR1-mediated ceramide 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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ABLEPHARON-MACROSTOMIA SYNDROME	Ablepharon macrostomia syndrome	BEFREE	30278484		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	30047498		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	30019299		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	22592183		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	16702786		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28158562		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	28158562	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29434907, 30774385		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	18395227, 25048599, 31601710		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	36646776	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	36646776	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	20874815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	12385007, 19946739, 27600565		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22355776, 27600565, 27754360, 31113938	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18458027, 29048616, 33537079, 34611296, 35101055, 37828084	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11099474, 29290282		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18621736, 28396991	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34657150	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28418088, 28465488		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	17760843	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24481459		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29048616, 31705928		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	29048616, 31705928		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17072338, 19855191, 30451832		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24504450, 30962803		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11836445, 19855191, 30451832, 37519194	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	11709417, 27208796		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20871634		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	LHGDN	11956211		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	27890430, 30784197		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	20103773		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20103773, 31545290		★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	18458027	Stimulate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	31237044		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	11824616		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	36646776	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	30352458	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	30352458	Associate	★☆☆☆☆ Found in Text Mining only
Enterocolitis	Enterocolitis	BEFREE	29025732		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29090925		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	30967017		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	24481459		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28760343		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28760343		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25719728	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	30519322		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	30519322		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29039466		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	30519322		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	15153340		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15153340, 31545240		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24008630, 27763568		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27763568	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	11709417, 27208796		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	27816562		★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	11282888	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	32215176	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	17515463		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29025732		★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	18458027		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24000012		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21935400, 25901709, 28396991, 28945227, 29454068, 30809310		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28465488	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	36114579	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25719728	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30451832, 35616137	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12385007, 27600565		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28760343		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	21935400		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28418088, 28465488		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	CTD_human_DG	15274141		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30774385		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22378065		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	28343944		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26199092, 27530921, 28797110, 29085480, 31417279		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18442364, 20046837, 20493699, 23893384, 24008630, 24882575, 28336233, 28945227, 29290282, 29434907, 29445214, 30451832, 30809310, 31113450, 31705928		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29048616, 31705928		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11836445, 17072338, 19855191, 30451832		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	18816594		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	17482134	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	18442364, 22007921, 28092671, 28343944, 31819494		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	LHGDN	18442364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metastatic melanoma	Metastatic Melanoma	BEFREE	18442364		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	37820724	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	CTD_human_DG	15274141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	BEFREE	30315883		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	11513954, 28816378		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	27170279	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11099474, 22007921, 22240482, 22592183, 24008630, 24481459, 25719728, 28935684, 29025732, 29048616, 29085480, 29379302, 29454068, 30849478, 30962803, 31819494		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22246531, 28158562, 30287278		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	28158562	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24947010		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28852378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25686824, 28465488, 30519322		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	37591850	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37828084	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30774385		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	29434907, 30774385		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Acute Necrotizing	Necrotizing pancreatitis	BEFREE	30047498		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	22007921		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	25010392		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	27644318		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22378065		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22378065, 34082608	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	17515463		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	31601710	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20871634		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29039466		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	40016701	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	15274141		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23893384, 25719728, 29379302		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18458027	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	15467455		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26199092, 27530921, 28797110, 29085480, 31417279		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27453417	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28797110, 37443145	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30862604		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29048616	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35616137, 36658304	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	19966859	Associate	★☆☆☆☆ Found in Text Mining only