CASP7 (caspase 7)

Gene

• Entrez ID: 840
• Gene name: Caspase 7
• Gene symbol: CASP7
• Synonyms (NCBI Gene): CASP-7, CMH-1, ICE-LAP3, LICE2, MCH3
• Chromosome: 10
• Chromosome location: 10q25.3
• 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT020444	hsa-miR-106b-5p	Microarray	17242205
MIRT021838	hsa-miR-132-3p	Microarray	17612493
MIRT023343	hsa-miR-122-5p	Microarray	17612493
MIRT024257	hsa-miR-215-5p	Microarray	19074876
MIRT024257	hsa-miR-215-5p	Microarray	19074876
MIRT026826	hsa-miR-192-5p	Microarray	19074876
MIRT030234	hsa-miR-26b-5p	Microarray	19088304
MIRT042101	hsa-miR-484	CLASH	23622248
MIRT053388	hsa-miR-106a-5p	Luciferase reporter assay, Western blot	23807165
MIRT053388	hsa-miR-106a-5p	Luciferase reporter assay, Western blot	23807165
MIRT020444	hsa-miR-106b-5p	Luciferase reporter assay, qRT-PCR, Western blot	22986525
MIRT020444	hsa-miR-106b-5p	Luciferase reporter assay, qRT-PCR, Western blot	22986525
MIRT020444	hsa-miR-106b-5p	Luciferase reporter assay, qRT-PCR, Western blot	22986525
MIRT020444	hsa-miR-106b-5p	Luciferase reporter assay, qRT-PCR, Western blot	22986525
MIRT731813	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	27449900
MIRT731813	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	27449900
MIRT732066	hsa-miR-224-5p	Luciferase reporter assay, qRT-PCR, Western blot	26307684
MIRT732066	hsa-miR-224-5p	Luciferase reporter assay, qRT-PCR, Western blot	26307684
MIRT732066	hsa-miR-224-5p	Luciferase reporter assay, qRT-PCR, Western blot	26307684
MIRT735408	hsa-miR-371b-5p	Luciferase reporter assay, Western blotting, Microarray	32951155
MIRT864129	hsa-miR-1236	CLIP-seq
MIRT864130	hsa-miR-4659a-5p	CLIP-seq
MIRT864131	hsa-miR-4659b-5p	CLIP-seq
MIRT864132	hsa-miR-4698	CLIP-seq
MIRT864133	hsa-miR-4699-3p	CLIP-seq
MIRT864134	hsa-miR-4776-3p	CLIP-seq
MIRT864135	hsa-miR-495	CLIP-seq
MIRT864136	hsa-miR-548a-5p	CLIP-seq
MIRT864137	hsa-miR-548ab	CLIP-seq
MIRT864138	hsa-miR-548ak	CLIP-seq
MIRT864139	hsa-miR-548b-5p	CLIP-seq
MIRT864140	hsa-miR-548c-3p	CLIP-seq
MIRT864141	hsa-miR-548c-5p	CLIP-seq
MIRT864142	hsa-miR-548d-5p	CLIP-seq
MIRT864143	hsa-miR-548h	CLIP-seq
MIRT864144	hsa-miR-548i	CLIP-seq
MIRT864145	hsa-miR-548j	CLIP-seq
MIRT864146	hsa-miR-548n	CLIP-seq
MIRT864147	hsa-miR-548t	CLIP-seq
MIRT864148	hsa-miR-548w	CLIP-seq
MIRT864149	hsa-miR-548y	CLIP-seq
MIRT864150	hsa-miR-559	CLIP-seq
MIRT864151	hsa-miR-802	CLIP-seq
MIRT864152	hsa-miR-888	CLIP-seq
MIRT864153	hsa-miR-1245	CLIP-seq
MIRT864154	hsa-miR-190	CLIP-seq
MIRT864155	hsa-miR-190b	CLIP-seq
MIRT864156	hsa-miR-23a	CLIP-seq
MIRT864157	hsa-miR-23b	CLIP-seq
MIRT864158	hsa-miR-23c	CLIP-seq
MIRT864159	hsa-miR-3115	CLIP-seq
MIRT864160	hsa-miR-3180-5p	CLIP-seq
MIRT864161	hsa-miR-320a	CLIP-seq
MIRT864162	hsa-miR-320b	CLIP-seq
MIRT864163	hsa-miR-320c	CLIP-seq
MIRT864164	hsa-miR-320d	CLIP-seq
MIRT864165	hsa-miR-3606	CLIP-seq
MIRT864166	hsa-miR-3690	CLIP-seq
MIRT864167	hsa-miR-3977	CLIP-seq
MIRT864168	hsa-miR-4254	CLIP-seq
MIRT864169	hsa-miR-4427	CLIP-seq
MIRT864170	hsa-miR-4429	CLIP-seq
MIRT864171	hsa-miR-4434	CLIP-seq
MIRT864172	hsa-miR-4516	CLIP-seq
MIRT864173	hsa-miR-4531	CLIP-seq
MIRT864174	hsa-miR-4640-5p	CLIP-seq
MIRT864175	hsa-miR-4668-3p	CLIP-seq
MIRT864176	hsa-miR-4680-3p	CLIP-seq
MIRT864177	hsa-miR-4726-5p	CLIP-seq
MIRT864178	hsa-miR-4755-3p	CLIP-seq
MIRT864179	hsa-miR-4762-3p	CLIP-seq
MIRT864180	hsa-miR-4765	CLIP-seq
MIRT864181	hsa-miR-520a-5p	CLIP-seq
MIRT864182	hsa-miR-525-5p	CLIP-seq
MIRT864183	hsa-miR-660	CLIP-seq
MIRT864184	hsa-miR-921	CLIP-seq
MIRT1956163	hsa-miR-1208	CLIP-seq
MIRT864134	hsa-miR-4776-3p	CLIP-seq
MIRT864166	hsa-miR-3690	CLIP-seq
MIRT864168	hsa-miR-4254	CLIP-seq
MIRT864175	hsa-miR-4668-3p	CLIP-seq
MIRT1956163	hsa-miR-1208	CLIP-seq
MIRT864129	hsa-miR-1236	CLIP-seq
MIRT864153	hsa-miR-1245	CLIP-seq
MIRT2497004	hsa-miR-1261	CLIP-seq
MIRT2497005	hsa-miR-1294	CLIP-seq
MIRT2497006	hsa-miR-1976	CLIP-seq
MIRT2497007	hsa-miR-2116	CLIP-seq
MIRT864156	hsa-miR-23a	CLIP-seq
MIRT864157	hsa-miR-23b	CLIP-seq
MIRT864158	hsa-miR-23c	CLIP-seq
MIRT864159	hsa-miR-3115	CLIP-seq
MIRT2497008	hsa-miR-3119	CLIP-seq
MIRT2497009	hsa-miR-3120-5p	CLIP-seq
MIRT2497010	hsa-miR-3189-3p	CLIP-seq
MIRT864165	hsa-miR-3606	CLIP-seq
MIRT2497011	hsa-miR-3646	CLIP-seq
MIRT2497012	hsa-miR-3655	CLIP-seq
MIRT2497013	hsa-miR-375	CLIP-seq
MIRT2497014	hsa-miR-4264	CLIP-seq
MIRT2497015	hsa-miR-4273	CLIP-seq
MIRT2497016	hsa-miR-4279	CLIP-seq
MIRT864174	hsa-miR-4640-5p	CLIP-seq
MIRT2497017	hsa-miR-4659a-3p	CLIP-seq
MIRT2497018	hsa-miR-4659b-3p	CLIP-seq
MIRT2497019	hsa-miR-4677-5p	CLIP-seq
MIRT2497020	hsa-miR-4678	CLIP-seq
MIRT2497021	hsa-miR-4697-3p	CLIP-seq
MIRT2497022	hsa-miR-4704-3p	CLIP-seq
MIRT2497023	hsa-miR-4710	CLIP-seq
MIRT2497024	hsa-miR-4722-3p	CLIP-seq
MIRT864177	hsa-miR-4726-5p	CLIP-seq
MIRT2497025	hsa-miR-4753-3p	CLIP-seq
MIRT864178	hsa-miR-4755-3p	CLIP-seq
MIRT2497026	hsa-miR-4780	CLIP-seq
MIRT2497027	hsa-miR-4786-5p	CLIP-seq
MIRT2497028	hsa-miR-4790-3p	CLIP-seq
MIRT2497029	hsa-miR-4792	CLIP-seq
MIRT2497030	hsa-miR-4797-3p	CLIP-seq
MIRT2497031	hsa-miR-483-3p	CLIP-seq
MIRT864135	hsa-miR-495	CLIP-seq
MIRT2497032	hsa-miR-549	CLIP-seq
MIRT2497033	hsa-miR-578	CLIP-seq
MIRT2497034	hsa-miR-623	CLIP-seq
MIRT2497035	hsa-miR-630	CLIP-seq
MIRT2497036	hsa-miR-653	CLIP-seq
MIRT2497037	hsa-miR-769-5p	CLIP-seq
MIRT864184	hsa-miR-921	CLIP-seq
MIRT2497038	hsa-miR-942	CLIP-seq
MIRT1956163	hsa-miR-1208	CLIP-seq
MIRT864129	hsa-miR-1236	CLIP-seq
MIRT864153	hsa-miR-1245	CLIP-seq
MIRT2497004	hsa-miR-1261	CLIP-seq
MIRT2497005	hsa-miR-1294	CLIP-seq
MIRT2497006	hsa-miR-1976	CLIP-seq
MIRT2497007	hsa-miR-2116	CLIP-seq
MIRT864156	hsa-miR-23a	CLIP-seq
MIRT864157	hsa-miR-23b	CLIP-seq
MIRT864158	hsa-miR-23c	CLIP-seq
MIRT864159	hsa-miR-3115	CLIP-seq
MIRT2497009	hsa-miR-3120-5p	CLIP-seq
MIRT2497010	hsa-miR-3189-3p	CLIP-seq
MIRT864165	hsa-miR-3606	CLIP-seq
MIRT2497011	hsa-miR-3646	CLIP-seq
MIRT2497014	hsa-miR-4264	CLIP-seq
MIRT2497015	hsa-miR-4273	CLIP-seq
MIRT2497016	hsa-miR-4279	CLIP-seq
MIRT864174	hsa-miR-4640-5p	CLIP-seq
MIRT2497017	hsa-miR-4659a-3p	CLIP-seq
MIRT2497018	hsa-miR-4659b-3p	CLIP-seq
MIRT2497019	hsa-miR-4677-5p	CLIP-seq
MIRT2497020	hsa-miR-4678	CLIP-seq
MIRT2497021	hsa-miR-4697-3p	CLIP-seq
MIRT2497022	hsa-miR-4704-3p	CLIP-seq
MIRT2497023	hsa-miR-4710	CLIP-seq
MIRT2497024	hsa-miR-4722-3p	CLIP-seq
MIRT864177	hsa-miR-4726-5p	CLIP-seq
MIRT2497025	hsa-miR-4753-3p	CLIP-seq
MIRT864178	hsa-miR-4755-3p	CLIP-seq
MIRT2497026	hsa-miR-4780	CLIP-seq
MIRT2497027	hsa-miR-4786-5p	CLIP-seq
MIRT2497028	hsa-miR-4790-3p	CLIP-seq
MIRT2497029	hsa-miR-4792	CLIP-seq
MIRT2497030	hsa-miR-4797-3p	CLIP-seq
MIRT2497031	hsa-miR-483-3p	CLIP-seq
MIRT2497032	hsa-miR-549	CLIP-seq
MIRT2497033	hsa-miR-578	CLIP-seq
MIRT2497034	hsa-miR-623	CLIP-seq
MIRT2497035	hsa-miR-630	CLIP-seq
MIRT2497036	hsa-miR-653	CLIP-seq
MIRT2497037	hsa-miR-769-5p	CLIP-seq
MIRT864184	hsa-miR-921	CLIP-seq
MIRT2497038	hsa-miR-942	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Activation	12766778
IRF1	Activation	10918594
RUNX3	Activation	15930301

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	22464733
GO:0001650	Component	Fibrillar center	IDA
GO:0001778	Process	Plasma membrane repair	IDA	20530211
GO:0003723	Function	RNA binding	IDA	31586028
GO:0003723	Function	RNA binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004190	Function	Aspartic-type endopeptidase activity	IEA
GO:0004197	Function	Cysteine-type endopeptidase activity	IBA
GO:0004197	Function	Cysteine-type endopeptidase activity	IDA	11257230, 16123041, 16352606, 16374543, 16916640, 17646170, 18723680, 19581639, 19617626, 20566630, 21157428, 22184066, 22451931, 22464733, 23650375, 23897474, 24904167, 27032039, 27889207, 28863261, 31586028, 37327784
GO:0004197	Function	Cysteine-type endopeptidase activity	IEA
GO:0004197	Function	Cysteine-type endopeptidase activity	IMP	22253444
GO:0004197	Function	Cysteine-type endopeptidase activity	ISS
GO:0005515	Function	Protein binding	IPI	11084335, 11257230, 11257231, 12888622, 21157428, 21555521, 25416956, 31467278, 31470122, 32296183, 32814053, 32911434, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	TAS	21157428
GO:0005634	Component	Nucleus	IDA	16374543, 19617626, 21555521, 22464733
GO:0005634	Component	Nucleus	IDA	17167422
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	21555521
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	8576161
GO:0005829	Component	Cytosol	IDA	16352606
GO:0005829	Component	Cytosol	IDA	17167422
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	15329343
GO:0006508	Process	Proteolysis	IDA	12888622
GO:0006508	Process	Proteolysis	IEA
GO:0006915	Process	Apoptotic process	IBA
GO:0006915	Process	Apoptotic process	IDA	17464193
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	TAS	8567622
GO:0007507	Process	Heart development	IEA
GO:0008233	Function	Peptidase activity	IDA	19740745
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	TAS	8567622
GO:0009411	Process	Response to UV	IEA
GO:0016485	Process	Protein processing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030163	Process	Protein catabolic process	IDA	16374543
GO:0030163	Process	Protein catabolic process	IDA	16374543, 22184066, 22464733
GO:0030163	Process	Protein catabolic process	IEA
GO:0042742	Process	Defense response to bacterium	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	22464733
GO:0043525	Process	Positive regulation of neuron apoptotic process	IBA
GO:0044346	Process	Fibroblast apoptotic process	IEA
GO:0046513	Process	Ceramide biosynthetic process	IDA	17303575
GO:0051146	Process	Striated muscle cell differentiation	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051604	Process	Protein maturation	IDA	21157428
GO:0051604	Process	Protein maturation	IEA
GO:0070212	Process	Protein poly-ADP-ribosylation	IDA	33186521
GO:0070227	Process	Lymphocyte apoptotic process	IEA
GO:0070227	Process	Lymphocyte apoptotic process	ISS
GO:0070269	Process	Pyroptotic inflammatory response	IDA	33883744
GO:0071222	Process	Cellular response to lipopolysaccharide	IDA	22464733
GO:0071887	Process	Leukocyte apoptotic process	IEA
GO:0072734	Process	Cellular response to staurosporine	IEA
GO:0072734	Process	Cellular response to staurosporine	IMP	22253444
GO:0097194	Process	Execution phase of apoptosis	IBA
GO:0097194	Process	Execution phase of apoptosis	IDA	16374543
GO:0097194	Process	Execution phase of apoptosis	IDA	16374543, 16916640, 22184066, 31586028
GO:0097194	Process	Execution phase of apoptosis	IEA
GO:0097194	Process	Execution phase of apoptosis	IEA
GO:1905686	Process	Positive regulation of plasma membrane repair	IEA

Other IDs

• MIM: 601761
• HGNC: 1508
• e!Ensembl: ENSG00000165806

Protein

• UniProt ID: P55210
• Protein name: Caspase-7 (CASP-7) (EC 3.4.22.60) (Apoptotic protease Mch-3) (CMH-1) (ICE-like apoptotic protease 3) (ICE-LAP3) [Cleaved into: Caspase-7 subunit p20; Caspase-7 subunit p11]
• Protein function: Thiol protease involved in different programmed cell death processes, such as apoptosis, pyroptosis or granzyme-mediated programmed cell death, by proteolytically cleaving target proteins (PubMed:11257230, PubMed:11257231, PubMed:11701129, PubMe
• PDB: 1F1J, 1GQF, 1I4O, 1I51, 1K86, 1K88, 1KMC, 1SHJ, 1SHL, 2QL5, 2QL7, 2QL9, 2QLB, 2QLF, 2QLJ, 3EDR, 3H1P, 3IBC, 3IBF, 3R5K, 4FDL, 4FEA, 4HQ0, 4HQR, 4JB8, 4JJ8, 4JR1, 4JR2, 4LSZ, 4ZVO, 4ZVP, 4ZVQ, 4ZVR, 4ZVS, 4ZVT, 4ZVU, 5IC6, 5K20, 5V6U, 5V6Z, 7WZS, 8DGZ, 8DJ3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00656	Peptidase_C14	68 → 301		Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in lung, skeletal muscle, liver, kidney, spleen and heart, and moderately in testis. No expression in the brain. {ECO:0000269|PubMed:8576161}.
• Sequence:

  MADDQGCIEEQGVEDSANEDSVDAKPDRSSFVPSLFSKKKKNVTMRSIKTTRDRVPTYQY
  NMNFEKLGKCIIINNKNFDKVTGMGVRNGTDKDAEALFKCFRSLGFDVIVYNDCSCAKMQ
  DLLKKASEEDHTNAACFACILLSHGEENVIYGKDGVTPIKDLTAHFRGDRCKTLLEKPKL
  FFIQACRGTELDDGIQADSGPINDTDANPRYKIPVEADFLFAYSTVPGYYSWRSPGRGSW
  FVQALCSILEEHGKDLEIMQILTRVNDRVARHFESQSDDPHFHEKKQIPCVVSMLTKELY
  FSQ

• Sequence length: 303

Pathways

KEGG:

Efferocytosis
Apoptosis
Apoptosis - multiple species
Cytosolic DNA-sensing pathway
TNF signaling pathway
Non-alcoholic fatty liver disease
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Pathogenic Escherichia coli infection
Salmonella infection
Pertussis
Legionellosis
Pathways in cancer
Lipid and atherosclerosis

Reactome:

Activation of caspases through apoptosome-mediated cleavage
SMAC (DIABLO) binds to IAPs
SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes
Apoptotic cleavage of cellular proteins
SMAC, XIAP-regulated apoptotic response
Caspase-mediated cleavage of cytoskeletal proteins

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
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	20453000		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26621834, 27358062, 30503768	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	27358062, 30503768		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	26159164	Stimulate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28831647		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	23231720	Stimulate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	26783238, 28983625, 29805590, 29928387, 31086597		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	32073752	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	16583263		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	21555521		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	19674193, 19724676, 21429729, 25220225, 26011589, 30259091, 30290054, 30602686, 34452574, 36615253, 37537243	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	22241218, 37569852	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12970753		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	21555521	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21199322, 23830978, 35871161	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of ampulla of Vater	Ampullary Carcinoma	BEFREE	23343959		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	19058873, 20661084, 23315881, 26307684		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33850476	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	31819117	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	31819117	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	25784056		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	25784056		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	30586948		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24885920		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20567846, 29209314, 30448733, 31601152		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20930850, 24407236, 24992592, 31601152, 36611995	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29891807		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19175688, 29302057	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29072691	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	19531679		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	19531679, 35725817, 37906351	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	24040159, 33742771, 38196829	Associate	★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	31514445		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	24040159		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	17942911, 18669646		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	18669646, 30670698	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	17942911, 18669646		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18403493, 19001440, 26223576	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	33469117	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	23985558	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30448733		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	18302283	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31819117		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	22556343	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	20105315	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	21695163, 31831875	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	9920855	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	26403071		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	26403071		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28983625		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	15006602, 20661084, 26307684, 38168007	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20661084	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	17532763		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	16583263		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21555521, 30069746		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	19531679		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19058873, 20661084, 23315881, 26307684		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	26403071		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28656219		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11196158, 22986525, 9426061, 9927051		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24040159		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12970753, 19058873, 19531679, 22441531, 23355466, 23765963, 23979166, 26403071, 28287256, 28807721, 29805590		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	25784056		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24885920		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	16583263		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	16583263		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	16583263		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	19887560, 27537345	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	15033720		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19383853, 23527236, 30989459, 31673075, 33833342	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	23212344, 35328402	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	Pubtator	37762422	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	34584036	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	24269648		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	20816779	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16609042, 18806828, 22986525, 28771222, 30448733, 30890550, 31009625, 31220695, 31514445		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	14670183	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	19617626	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28287256		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19826114, 22441531, 26307684, 28980920		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23193206	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	23603903	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	20459702	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28656219		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17406026, 21909380, 26247574, 26675757, 27936114	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27339879		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28988321		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10786680, 11196158, 22986525, 9426061, 9927051		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15548330, 22564737, 22986525	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30298576	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17504820, 18785314		★☆☆☆☆ Found in Text Mining only
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	Scapuloperoneal Myopathy, X-Linked	BEFREE	23271051		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	36443881	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	11943196	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	26988918		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	26988918	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	19955365, 25859008		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23271051		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24040159		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	15511269		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24040159, 24838641	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	26934320	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26909599, 35056723	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	30448733		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28433067	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	25784056, 28639897	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASCAT_DG	22561518, 27723757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	CTD_human_DG	22561518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	GWASDB_DG	22561518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	28777835	Associate	★☆☆☆☆ Found in Text Mining only