CASP9 (caspase 9)

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

Gene

• Entrez ID: 842
• Gene name: Caspase 9
• Gene symbol: CASP9
• Synonyms (NCBI Gene): APAF-3, APAF3, ICE-LAP6, MCH6, PPP1R56
• Chromosome: 1
• Chromosome location: 1p36.21
• Summary: This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing

miRNA Show/Hide all (43)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT001985	hsa-miR-133b	Luciferase reporter assay	17715156
MIRT001985	hsa-miR-133b	Luciferase reporter assay	17715156
MIRT001985	hsa-miR-133b	Luciferase reporter assay	17715156
MIRT001985	hsa-miR-133b	Luciferase reporter assay	17715156
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT005294	hsa-let-7a-5p	Western blot	18758960
MIRT016408	hsa-miR-193b-3p	Microarray	20304954
MIRT025767	hsa-miR-7-5p	Microarray	19073608
MIRT029244	hsa-miR-26b-5p	Microarray	19088304
MIRT438728	hsa-miR-582-5p	and NCH441"	24805821
MIRT438728	hsa-miR-582-5p	and NCH441"	24805821
MIRT001986	hsa-miR-133a-3p	qRT-PCR	27425441
MIRT734897	hsa-miR-362-3p	Luciferase reporter assay, Western blotting, qRT-PCR	33459949
MIRT735256	hsa-miR-1271-3p	Microarray, qRT-PCR	32407273
MIRT756201	hsa-miR-107	Immunoprecipitaion (IP)	36816358
MIRT756320	hsa-miR-29b-1-5p	Western blotting	38934067
MIRT864244	hsa-miR-129-3p	CLIP-seq
MIRT864245	hsa-miR-224	CLIP-seq
MIRT864246	hsa-miR-3619-3p	CLIP-seq
MIRT864247	hsa-miR-3690	CLIP-seq
MIRT864248	hsa-miR-4308	CLIP-seq
MIRT864249	hsa-miR-4687-5p	CLIP-seq
MIRT864250	hsa-miR-4731-3p	CLIP-seq
MIRT864251	hsa-miR-4776-5p	CLIP-seq
MIRT864252	hsa-miR-4801	CLIP-seq
MIRT864253	hsa-miR-10a	CLIP-seq
MIRT864254	hsa-miR-10b	CLIP-seq
MIRT864255	hsa-miR-1276	CLIP-seq
MIRT864256	hsa-miR-2278	CLIP-seq
MIRT864257	hsa-miR-3919	CLIP-seq
MIRT864258	hsa-miR-4468	CLIP-seq
MIRT864259	hsa-miR-4725-5p	CLIP-seq
MIRT864260	hsa-miR-504	CLIP-seq
MIRT2193827	hsa-miR-3120-5p	CLIP-seq
MIRT864257	hsa-miR-3919	CLIP-seq
MIRT2193828	hsa-miR-4421	CLIP-seq
MIRT2193829	hsa-miR-668	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOS	Activation	20188076
NFKB1	Unknown	20056115
RELA	Unknown	20056115

Gene ontology (GO) Show/Hide all (69)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEA
GO:0001822	Process	Kidney development	IEA
GO:0002931	Process	Response to ischemia	IEA
GO:0004197	Function	Cysteine-type endopeptidase activity	IBA
GO:0004197	Function	Cysteine-type endopeptidase activity	IDA	16352606, 16916640, 16920334, 27889207
GO:0004197	Function	Cysteine-type endopeptidase activity	IEA
GO:0004197	Function	Cysteine-type endopeptidase activity	IMP	21980415
GO:0004197	Function	Cysteine-type endopeptidase activity	TAS	9390557
GO:0005515	Function	Protein binding	IPI	9922454, 10206961, 10376594, 11024045, 11069302, 11084335, 11350957, 11801603, 11821383, 12620238, 15657060, 16189514, 16537496, 16936772, 18022362, 18723680, 19153467, 19255499, 19494828, 19721007, 20462491, 21827945, 23516580, 25241761, 25416956, 25502805, 25519916, 27107012, 2999
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	12782307
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	17167422
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0006915	Process	Apoptotic process	IBA
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	IMP	15069058
GO:0006915	Process	Apoptotic process	TAS	8663294
GO:0006974	Process	DNA damage response	IDA	15657060
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	15657060
GO:0008047	Function	Enzyme activator activity	TAS	9390557
GO:0008233	Function	Peptidase activity	IDA	19740745
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008303	Component	Caspase complex	IPI	11734640
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IBA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IMP	15657060
GO:0009411	Process	Response to UV	IEA
GO:0009411	Process	Response to UV	IEA
GO:0016485	Process	Protein processing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019901	Function	Protein kinase binding	IDA	15657060
GO:0030220	Process	Platelet formation	TAS	18309324
GO:0032025	Process	Response to cobalt ion	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032991	Component	Protein-containing complex	IDA	11821383
GO:0034349	Process	Glial cell apoptotic process	IEA
GO:0034644	Process	Cellular response to UV	IDA	15657060
GO:0042770	Process	Signal transduction in response to DNA damage	IDA	15657060
GO:0042802	Function	Identical protein binding	IPI	15941357
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IMP	11821383
GO:0043293	Component	Apoptosome	IDA	21827945
GO:0043293	Component	Apoptosome	IPI	10206961
GO:0043525	Process	Positive regulation of neuron apoptotic process	IBA
GO:0043525	Process	Positive regulation of neuron apoptotic process	IEA
GO:0044346	Process	Fibroblast apoptotic process	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051604	Process	Protein maturation	IDA	16352606, 16916640
GO:0051604	Process	Protein maturation	IEA
GO:0071549	Process	Cellular response to dexamethasone stimulus	IEA
GO:0071680	Process	Response to indole-3-methanol	IEA
GO:0071887	Process	Leukocyte apoptotic process	IEA
GO:0072347	Process	Response to anesthetic	IEA
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IC	10206961
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IDA	35446120
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IMP	15565177
GO:0097193	Process	Intrinsic apoptotic signaling pathway	NAS	10206961
GO:1900119	Process	Positive regulation of execution phase of apoptosis	IDA	16916640
GO:1904019	Process	Epithelial cell apoptotic process	IEA

Other IDs

• MIM: 602234
• HGNC: 1511
• e!Ensembl: ENSG00000132906

Protein

• UniProt ID: P55211
• Protein name: Caspase-9 (CASP-9) (EC 3.4.22.62) (Apoptotic protease Mch-6) (Apoptotic protease-activating factor 3) (APAF-3) (ICE-like apoptotic protease 6) (ICE-LAP6) [Cleaved into: Caspase-9 subunit p35; Caspase-9 subunit p10]
• Protein function: Involved in the activation cascade of caspases responsible for apoptosis execution. Binding of caspase-9 to Apaf-1 leads to activation of the protease which then cleaves and activates effector caspases caspase-3 (CASP3) or caspase-7 (CASP7). Pro
• PDB: 1JXQ , 1NW9 , 2AR9 , 3D9T , 3V3K , 3YGS , 4RHW , 5JUY , 5WVC , 5WVE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00619	CARD	6 → 92	Caspase recruitment domain	Domain
  PF00656	Peptidase_C14	161 → 413		Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous, with highest expression in the heart, moderate expression in liver, skeletal muscle, and pancreas. Low levels in all other tissues. Within the heart, specifically expressed in myocytes. {ECO:0000269|PubMed:16857965}.
• Sequence:

  MDEADRRLLRRCRLRLVEELQVDQLWDALLSRELFRPHMIEDIQRAGSGSRRDQARQLII
  DLETRGSQALPLFISCLEDTGQDMLASFLRTNRQAAKLSKPTLENLTPVVLRPEIRKPEV
  LRPETPRPVDIGSGGFGDVGALESLRGNADLAYILSMEPCGHCLIINNVNFCRESGLRTR
  TGSNIDCEKLRRRFSSLHFMVEVKGDLTAKKMVLALLELAQQDHGALDCCVVVILSHGCQ
  ASHLQFPGAVYGTDGCPVSVEKIVNIFNGTSCPSLGGKPKLFFIQACGGEQKDHGFEVAS
  TSPEDESPGSNPEPDATPFQEGLRTFDQLDAISSLPTPSDIFVSYSTFPGFVSWRDPKSG
  SWYVETLDDIFEQWAHSEDLQSLLLRVANAVSVKGIYKQMPGCFNFLRKKLFFKTS

• Sequence length: 416

Pathways

KEGG Pathway	Reactome Pathway
Platinum drug resistance	Formation of apoptosome
p53 signaling pathway	Activation of caspases through apoptosome-mediated cleavage
PI3K-Akt signaling pathway	NOD1/2 Signaling Pathway
Apoptosis	AKT phosphorylates targets in the cytosol
Apoptosis - multiple species	Caspase activation via Dependence Receptors in the absence of ligand
VEGF signaling pathway	Constitutive Signaling by AKT1 E17K in Cancer
Thyroid hormone signaling pathway	Regulation of the apoptosome activity
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Pathogenic Escherichia coli infection
Legionellosis
Toxoplasmosis
Tuberculosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
Colorectal cancer
Pancreatic cancer
Endometrial cancer
Prostate cancer
Small cell lung cancer
Non-small cell lung cancer
Viral myocarditis
Lipid and atherosclerosis

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 (15)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
BRAIN ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	11756504	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CASP9-related disorder	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDEMA	—	CTD	19874808	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	31578528, 39024449, 39406924	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	11150333	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	20864405	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	17199135	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DETACHMENT	—	CTD, Disgenet CTD, Disgenet	18497877	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT ISCHEMIC ATTACK	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (276)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	30774430		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	27984487, 31671079		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	25248926		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	11801602, 16689829		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	20453000		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	16689829, 21505894, 28285961		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	18056177		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	19887560		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	25569260	Associate	★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	30311940		★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	18199533, 26393583		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	29808162		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	27935156		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	30809091		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	25962658, 30413028		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	20187936, 24920239, 32584515, 32692720	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	26938720		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	12393263		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	11382748		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	11382748	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	25962658, 30413028		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	26004742		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	25569260	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	BEFREE	26485099		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	17585225, 24786146, 26755751, 27221781, 27878984, 28123569, 28272166, 28343296, 28356987, 28454103, 28529594, 28589243, 28643758, 28693160, 28700107, 28789432, 28944882, 28990064, 29042944, 29085465, 29115535, 29138795, 29243778, 29286113, 29286130, 29387245, 29456668, 29457525, 29467861, 29512699, 29552219, 29563994, 29576796, 29617412, 29658590, 29762467, 29767237, 29774101, 29786748, 29805607, 29843139, 29891925, 29901096, 29901098, 29916538, 29925224, 30008820, 30015889, 30241011, 30308516, 30339249, 30431064, 30439707, 30538798, 30563041, 30651849, 30747219, 30845749, 30864677, 30867720, 30878570, 30952729, 31070734, 31115574, 31219428, 31407160, 31442950, 31524253, 31636641, 31772601, 31772707, 31849486		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	31211503		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	30295140		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19412632, 23064738, 29207978		★☆☆☆☆ Found in Text Mining only
Bloch Sulzberger syndrome	Incontinentia pigmenti syndrome	BEFREE	28017962		★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE B1	Brachydactyly	BEFREE	31280521		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	CTD_human_DG	11756504		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain neoplasms	Pubtator	27935156	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	27935156, 28870924		★☆☆☆☆ Found in Text Mining only
Brain Stem Ischemia, Transient	Cerebral Ischemia	CTD_human_DG	11333366		★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	28870924		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	31089358		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18058803, 21078168, 21821931, 22981751, 24402572, 27081867, 27327132, 28084318, 29141557, 30918105		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12644829, 16309219, 17121430, 18840411, 19245689, 19724676, 20453870, 21901386, 24402572, 25119466, 25374178, 25419573, 25703814, 27245202, 27270654, 27995416, 29370116, 30290054, 30485942, 31983109, 32186756, 32746451, 33121449, 33369440, 33369470, 33495824, 35233921, 36765397, 37116152, 37537243, 37638419, 37976368, 40102501	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34360714	Stimulate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	22131152, 25569260, 33325535	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	22131152		★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	23475579	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20972326, 23303631, 24592539, 30886656, 36580018	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16689829, 20877573		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	27061543	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	24927175	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24969544, 27367026, 27509965, 28356025, 28453560, 28486557, 32862582, 33642822, 33776365, 34732665, 35127170	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of ampulla of Vater	Ampullary Carcinoma	BEFREE	23343959		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19412632, 23064738, 29207978		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16687442, 20661084, 20972334, 23252748, 23315881, 28575806, 29618932, 30875659		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	30178832, 31210304	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	34779408	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	21082031, 35308143	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28679648, 33896245	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27748882, 29338433, 30394813, 31043579		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	12907417	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	25888309	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Circulation Transient Ischemic Attack	Transient Ischemic Attack	CTD_human_DG	11333366		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	11779095	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21677173, 22695677		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	20232432		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	19887560		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	28662515, 35683032	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	14506752		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	27983929, 30400387		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20628148, 23201402, 23482887, 31637186		★☆☆☆☆ Found in Text Mining only
Chronic mountain sickness	Mountain sickness	BEFREE	29176544		★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	19940360	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	31159239	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30088538		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	30088538	Associate	★☆☆☆☆ Found in Text Mining only
Color Blindness, Blue	Color blindness	BEFREE	19326440		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21538054, 22223359, 23303631		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11514566, 23303631, 24592539, 25031754, 28423356, 28972559, 29801534, 31633448, 33878735, 35836259	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	26485099		★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	BEFREE	28786179		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	26313366, 30470919		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23469687, 23645041		★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	29847820	Stimulate	★☆☆☆☆ Found in Text Mining only
Crescendo Transient Ischemic Attacks	Transient Ischemic Attack	CTD_human_DG	11333366		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	20887385, 30515402		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	31159239	Stimulate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	37658984	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28177918		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30937278		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	30125412	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26648531, 30937278		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	27141571	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30038056		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	LHGDN	15657349		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	18056177		★☆☆☆☆ Found in Text Mining only
Dysequilibrium syndrome	Dysequilibrium syndrome	Pubtator	37052975	Associate	★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	BEFREE	28786179		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	28421904, 32407273, 37906351	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	34746304	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30465949		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	28407361, 37500660	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32071920	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	30519038		★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	22641094	Inhibit	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	22641094		★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	20103053	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	25031754	Associate	★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	23329179		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11772428, 14767475, 24805821, 26804704, 29236891, 30127865		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	11772428, 15523899, 24805821, 28656196, 29236891, 30670698, 31390836, 32210117, 32504326, 35658846	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	18814044		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11772428, 14767475, 24278406, 24805821, 26804704, 29236891, 30127865		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	11870542, 15523899, 16319070, 18813792, 22406992, 22761708, 26748401, 27893811, 27935156, 28341638, 29164574, 36570001	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	14767475, 20514462, 20676365, 27255231, 28388894, 28870924, 29316313		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29316313	Inhibit	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	28214865		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	24581426	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	24753538, 26639404	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	12930371	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	12930371		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	12930371	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	28686330		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	28686330	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	29847820	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	18802096	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	23256595	Stimulate	★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	12244117	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	BEFREE	26991610		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	37451613	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	11880298, 30816677	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	17273772, 26464645, 32296107	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	30880546		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31057171		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	20887385, 30515402		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	21117896		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Displacement	Intervertebral disc displacement	Pubtator	23141929	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Meningioma	Intracranial Meningioma	BEFREE	28870924		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	28926773		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	18515575		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	27141571	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28719898		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	31801607		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	31424686	Associate	★☆☆☆☆ Found in Text Mining only
Laron Syndrome	Laron Syndrome	BEFREE	29208357		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	26648189	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	20704577, 24260527, 24563336, 26692089, 31398407, 33924032	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28700107, 30320340		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19652057, 24879622, 27907031, 35634845	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	17054427, 24879622, 25174432, 30774430, 31436412		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	22306364		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	25105148, 29996471		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	15220451		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16109524, 19887546, 28453560, 28486557, 29658604, 30008820, 31181889		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	20644519		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	29901131	Associate	★☆☆☆☆ Found in Text Mining only
Lumbar disc disease	Lumbar Disc Disease	BEFREE	21091209, 21117896		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	16242324, 16687442, 17285546		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	18468406, 20661084, 22246162, 22665367, 26647102, 28099148, 29165042, 29565268, 33148075, 35898682, 37984526	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	19326440, 25323693		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	30394862		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	18507053	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	30394862		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30394862		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	30394862		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	24358223		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	17071630		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	17071630, 19414860, 20855536		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	31787505		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	28686330		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21078168, 21821931, 22981751, 24402572, 27081867, 28084318, 29141557, 30918105		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31289468		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16687442, 20661084, 20972334, 23252748, 23315881, 29618932, 30875659		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	25105148, 29996471		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	27748882, 29338433, 30394813, 31043579		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20357690, 25725585		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11221855, 11559553, 20804486, 21396853, 22616010, 23726840, 24338711, 25333266, 26323553, 28358701		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17199135		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21461653, 27315344, 28677810		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19412632, 23064738, 29207978		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11346470, 11677110, 14767475, 16687442, 20357690, 21461653, 21538054, 21622622, 22616010, 23183822, 23479167, 23595591, 25301449, 28177918, 28183656, 28358701, 28399853, 29043662, 30394813, 31398407, 31632027		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11704839		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17299206		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	19887560	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	19887560		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11067917, 12771938, 15492260, 18234961, 23564313		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11067917, 23527236, 30866426, 36674631	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11369232	Stimulate	★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	BEFREE	30907242		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	24301913		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	18032822	Associate	★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	BEFREE	23239471		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	19245689, 22994717, 25879420, 28441753, 29039440, 29207128, 29448246, 29721083, 30139961, 30320378	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	24255713, 32733636	Stimulate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29516570	Inhibit	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	27827950, 34318593, 35268676	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	Pubtator	37762422	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	12531793, 15070698, 15626742, 16487170, 17384201, 17910628, 18381704, 19362737, 28264449, 28270494, 31564190, 31918281, 36262053	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	17384201, 18381704, 21856768, 24481531		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	19359048		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29630131		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	25337187, 30844723, 31566021, 31991751	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30111354, 30844723, 31004603		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11410874, 11677110, 11896617, 14566819, 15879006, 17088259, 18059167, 19724860, 20209601, 20972334, 21078168, 21082031, 21461653, 21869593, 22619347, 23166610, 23479167, 23613234, 25240826, 25549720, 26044560, 26993600, 27701048, 28123591, 28237487, 28453560, 28731169, 28826092, 29115633, 29549251, 29928412, 30003914, 31559608, 31586690, 31661694, 31669234, 31679311		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	CTD_human_DG	11150333		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	BEFREE	28786179, 29358613, 29365368		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	29358613, 29365368	Associate	★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	30977509		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11677110, 11870543, 11896617, 12393263, 12880977, 14617634, 21612408, 21929510, 29977157		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	LHGDN	11870543		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	11870543, 14617634, 14670183, 20044605, 26208481	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	15473998		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	22695677		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16827119, 19826114, 20972334, 21622622, 25323693, 29561705, 29565730, 29928412, 31092436, 31817093		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	28123508		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22836687, 40004007	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	37946484	Associate	★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	28203483, 30317635		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	22610481, 28635396, 29115549, 29305928, 29328422, 29434958		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	31081055, 32075661, 33321940	Associate	★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	29780828		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	27748882, 29338433, 30394813, 31043579		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22843880, 31043579, 31424650, 31913698, 31983100, 32502299	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23542236	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20357690, 20626591, 25725585		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	14669326, 27721241, 27756327, 33020506	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	22120515		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	11739563, 12666099, 15447678, 15629764, 17017543, 30019977		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	16505307		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	29230415		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	29230415	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	30311940, 30366216		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	29154960		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	CTD_human_DG	20864405		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	27899026		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	33287836	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	23702031		★☆☆☆☆ Found in Text Mining only
Posterior Circulation Transient Ischemic Attack	Transient Ischemic Attack	CTD_human_DG	11333366		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11221855, 11559553, 20804486, 21396853, 22616010, 23726840, 24338711, 25333266, 26323553, 28358701		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	30295140, 37378942	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	16982753		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17199135		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28358701, 28737827, 32196578, 32341393, 37378942	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	35027824	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	25017817		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	31033216		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23469687, 23645041		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	CTD_human_DG	18497877		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Pigment Epithelial Detachment	Retinal Pigment Epithelial Detachment	CTD_human_DG	18497877		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	31038819	Associate	★☆☆☆☆ Found in Text Mining only
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	BEFREE	23943790		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	19155307		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	25157404	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	15241089, 23590253		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	21555338, 29313067	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30663412, 30903678		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	22293900, 25216531, 28716524		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28700659, 31309556	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	10680594, 17308067, 30903678		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	25962755		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21461653, 27315344, 28677810		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12174360, 22799335, 25031754, 25780290, 29960296, 30809951, 32736677, 35522909	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	28327595, 29258835, 30337208		★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	29542026	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	29542026		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	26334619	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	19414420	Associate	★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	24184144		★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	CTD_human_DG	11333366		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	CTD_human_DG	11333366		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transient Ischemic Attack, Anterior Circulation	Transient Ischemic Attack	CTD_human_DG	11333366		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack, Vertebrobasilar Circulation	Transient Ischemic Attack	CTD_human_DG	11333366		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30843771, 30886656		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30886656, 34036395, 35056723, 37175458	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37093683	Inhibit	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	20887385, 30515402		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	23613234, 31769229, 32277642	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	15197583, 31638249, 39707317, 40603406	Associate	★☆☆☆☆ Found in Text Mining only
Varicocele	Varicocele	BEFREE	28849011		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	27918592	Associate	★☆☆☆☆ Found in Text Mining only
Venous Insufficiency	Venous insufficiency	Pubtator	29626597	Stimulate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

CASP3 4 shared diseasesBrain ischemia, Edema, Nervous system disease, Retinal detachment 25 shared pathwaysPlatinum drug resistance, p53 signaling pathway, Apoptosis, Apoptosis - multiple species, Parkinson disease, Prion disease, Pathogenic Escherichia coli infection, Legionellosis, Toxoplasmosis, Tuberculosis, Hepatitis C, Hepatitis B +13 more 9 shared evidence sourcesDisgenet (Parkinson disease), CTD (Brain ischemia), Disgenet (Brain ischemia), Disgenet (Diabetes mellitus type 2), CTD (Edema), CTD (Nervous system disease), Disgenet (Nervous system disease), CTD (Retinal detachment), Disgenet (Retinal detachment) Related via 25 shared pathways including Platinum drug resistance, p53 signaling pathway — evidence mostly Disgenet. ATF3 4 shared diseasesNervous system disease, Non-neoplastic peripheral nervous system disease, Peripheral nervous system disease, Peripheral neuropathy 6 shared evidence sourcesDisgenet (Diabetes mellitus type 2), CTD (Nervous system disease), Disgenet (Nervous system disease), Disgenet (Non-neoplastic peripheral nervous system disease), CTD (Peripheral nervous system disease), Disgenet (Peripheral neuropathy) Related via 4 shared diseases including Nervous system disease, Non-neoplastic peripheral nervous system disease — evidence mostly Disgenet. GJE1 3 shared diseasesNon-neoplastic peripheral nervous system disease, Peripheral nervous system disease, Peripheral neuropathy 3 shared evidence sourcesDisgenet (Non-neoplastic peripheral nervous system disease), CTD (Peripheral nervous system disease), Disgenet (Peripheral neuropathy) Related via 3 shared diseases including Non-neoplastic peripheral nervous system disease, Peripheral nervous system disease — evidence mostly Disgenet. DYNC1I1 3 shared diseasesNon-neoplastic peripheral nervous system disease, Peripheral nervous system disease, Peripheral neuropathy 3 shared evidence sourcesDisgenet (Non-neoplastic peripheral nervous system disease), CTD (Peripheral nervous system disease), Disgenet (Peripheral neuropathy) Related via 3 shared diseases including Non-neoplastic peripheral nervous system disease, Peripheral nervous system disease — evidence mostly Disgenet. CYP2C8 4 shared diseasesNervous system disease, Non-neoplastic peripheral nervous system disease, Peripheral nervous system disease, Peripheral neuropathy 1 shared pathwayLipid and atherosclerosis 5 shared evidence sourcesCTD (Nervous system disease), Disgenet (Nervous system disease), Disgenet (Non-neoplastic peripheral nervous system disease), CTD (Peripheral nervous system disease), Disgenet (Peripheral neuropathy) Related via 4 shared diseases including Nervous system disease, Non-neoplastic peripheral nervous system disease — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CASP3	4	["Brain ischemia","Edema","Nervous system disease","Retinal detachment"]	25	["Platinum drug resistance","p53 signaling pathway","Apoptosis","Apoptosis - multiple species","Parkinson disease","Prion disease","Pathogenic Escherichia coli infection","Legionellosis","Toxoplasmosis","Tuberculosis","Hepatitis C","Hepatitis B"]	9	["Disgenet (Parkinson disease)","CTD (Brain ischemia)","Disgenet (Brain ischemia)","Disgenet (Diabetes mellitus type 2)","CTD (Edema)","CTD (Nervous system disease)","Disgenet (Nervous system disease)","CTD (Retinal detachment)","Disgenet (Retinal detachment)"]
ATF3	4	["Nervous system disease","Non-neoplastic peripheral nervous system disease","Peripheral nervous system disease","Peripheral neuropathy"]	0	[]	6	["Disgenet (Diabetes mellitus type 2)","CTD (Nervous system disease)","Disgenet (Nervous system disease)","Disgenet (Non-neoplastic peripheral nervous system disease)","CTD (Peripheral nervous system disease)","Disgenet (Peripheral neuropathy)"]
GJE1	3	["Non-neoplastic peripheral nervous system disease","Peripheral nervous system disease","Peripheral neuropathy"]	0	[]	3	["Disgenet (Non-neoplastic peripheral nervous system disease)","CTD (Peripheral nervous system disease)","Disgenet (Peripheral neuropathy)"]
DYNC1I1	3	["Non-neoplastic peripheral nervous system disease","Peripheral nervous system disease","Peripheral neuropathy"]	0	[]	3	["Disgenet (Non-neoplastic peripheral nervous system disease)","CTD (Peripheral nervous system disease)","Disgenet (Peripheral neuropathy)"]
CYP2C8	4	["Nervous system disease","Non-neoplastic peripheral nervous system disease","Peripheral nervous system disease","Peripheral neuropathy"]	1	["Lipid and atherosclerosis"]	5	["CTD (Nervous system disease)","Disgenet (Nervous system disease)","Disgenet (Non-neoplastic peripheral nervous system disease)","CTD (Peripheral nervous system disease)","Disgenet (Peripheral neuropathy)"]

Diseases Linked via Similar Genes

Alzheimer disease Linked via 2 of 5 related genesCASP3, DYNC1I1 Major depressive disorder Linked via 2 of 5 related genesATF3, DYNC1I1 Calcinosis Linked via 1 of 5 related genesCASP3 Cerebral hemorrhage Linked via 1 of 5 related genesCASP3 Ulcerative colitis Linked via 1 of 5 related genesCASP3

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Alzheimer disease	2	["CASP3","DYNC1I1"]
Major depressive disorder	2	["ATF3","DYNC1I1"]
Calcinosis	1	["CASP3"]
Cerebral hemorrhage	1	["CASP3"]
Ulcerative colitis	1	["CASP3"]