KEAP1 (kelch like ECH associated protein 1)

Gene

• Entrez ID: 9817
• Gene name: Kelch like ECH associated protein 1
• Gene symbol: KEAP1
• Synonyms (NCBI Gene): INrf2, KLHL19
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is follow

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006704	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21914820
MIRT006704	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21914820
MIRT025794	hsa-miR-7-5p	Sequencing	20371350
MIRT029595	hsa-miR-26b-5p	Microarray	19088304
MIRT040649	hsa-miR-92b-3p	CLASH	23622248
MIRT053761	hsa-miR-141-3p	Luciferase reporter assay, qRT-PCR, Western blot	24628843
MIRT053761	hsa-miR-141-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23045278
MIRT053761	hsa-miR-141-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23045278
MIRT025794	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26453926
MIRT025794	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26453926
MIRT025794	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26453926
MIRT025794	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26453926
MIRT025794	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26453926
MIRT025794	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26453926
MIRT732785	hsa-miR-129-5p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blotting	33569456
MIRT732785	hsa-miR-129-5p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blotting	33569456
MIRT736293	hsa-miR-941	Western blotting, qRT-PCR	32102665
MIRT737548	hsa-miR-26b-3p	Western blotting, qRT-PCR	32104267
MIRT1085126	hsa-miR-1273f	CLIP-seq
MIRT1085127	hsa-miR-141	CLIP-seq
MIRT1085128	hsa-miR-143	CLIP-seq
MIRT1085129	hsa-miR-1827	CLIP-seq
MIRT1085130	hsa-miR-200a	CLIP-seq
MIRT1085131	hsa-miR-2110	CLIP-seq
MIRT1085132	hsa-miR-3065-5p	CLIP-seq
MIRT1085133	hsa-miR-3176	CLIP-seq
MIRT1085134	hsa-miR-3922-3p	CLIP-seq
MIRT1085135	hsa-miR-4271	CLIP-seq
MIRT1085136	hsa-miR-4287	CLIP-seq
MIRT1085137	hsa-miR-4649-3p	CLIP-seq
MIRT1085138	hsa-miR-4685-3p	CLIP-seq
MIRT1085139	hsa-miR-4708-5p	CLIP-seq
MIRT1085140	hsa-miR-4725-3p	CLIP-seq
MIRT1085141	hsa-miR-4757-5p	CLIP-seq
MIRT1085142	hsa-miR-4770	CLIP-seq
MIRT1085143	hsa-miR-4793-5p	CLIP-seq
MIRT1085144	hsa-miR-491-5p	CLIP-seq
MIRT1085145	hsa-miR-5095	CLIP-seq
MIRT1085146	hsa-miR-616	CLIP-seq
MIRT1085131	hsa-miR-2110	CLIP-seq
MIRT1085132	hsa-miR-3065-5p	CLIP-seq
MIRT1085135	hsa-miR-4271	CLIP-seq
MIRT1085140	hsa-miR-4725-3p	CLIP-seq
MIRT1085144	hsa-miR-491-5p	CLIP-seq
MIRT2021691	hsa-miR-1269	CLIP-seq
MIRT2021692	hsa-miR-1269b	CLIP-seq
MIRT2021693	hsa-miR-2114	CLIP-seq
MIRT1085133	hsa-miR-3176	CLIP-seq
MIRT2021694	hsa-miR-3622b-5p	CLIP-seq
MIRT1085134	hsa-miR-3922-3p	CLIP-seq
MIRT2021695	hsa-miR-4283	CLIP-seq
MIRT1085136	hsa-miR-4287	CLIP-seq
MIRT2021696	hsa-miR-4304	CLIP-seq
MIRT2021697	hsa-miR-4426	CLIP-seq
MIRT2021698	hsa-miR-4449	CLIP-seq
MIRT2021699	hsa-miR-4508	CLIP-seq
MIRT2021700	hsa-miR-4520b-3p	CLIP-seq
MIRT2021701	hsa-miR-4529-3p	CLIP-seq
MIRT2021702	hsa-miR-4532	CLIP-seq
MIRT2021703	hsa-miR-4540	CLIP-seq
MIRT2021704	hsa-miR-4647	CLIP-seq
MIRT2021705	hsa-miR-4662b	CLIP-seq
MIRT1085138	hsa-miR-4685-3p	CLIP-seq
MIRT1085141	hsa-miR-4757-5p	CLIP-seq
MIRT2021706	hsa-miR-4783-3p	CLIP-seq
MIRT1085143	hsa-miR-4793-5p	CLIP-seq
MIRT1085145	hsa-miR-5095	CLIP-seq
MIRT2021707	hsa-miR-512-3p	CLIP-seq
MIRT1085131	hsa-miR-2110	CLIP-seq
MIRT1085132	hsa-miR-3065-5p	CLIP-seq
MIRT1085135	hsa-miR-4271	CLIP-seq
MIRT1085140	hsa-miR-4725-3p	CLIP-seq
MIRT1085144	hsa-miR-491-5p	CLIP-seq
MIRT1085145	hsa-miR-5095	CLIP-seq
MIRT1085145	hsa-miR-5095	CLIP-seq
MIRT2389716	hsa-miR-3148	CLIP-seq
MIRT2389717	hsa-miR-3189-3p	CLIP-seq
MIRT2389718	hsa-miR-3647-3p	CLIP-seq
MIRT2389719	hsa-miR-3978	CLIP-seq
MIRT2389720	hsa-miR-502-5p	CLIP-seq
MIRT1085145	hsa-miR-5095	CLIP-seq
MIRT2556014	hsa-miR-2116	CLIP-seq
MIRT1085132	hsa-miR-3065-5p	CLIP-seq
MIRT2556015	hsa-miR-3117-5p	CLIP-seq
MIRT2389716	hsa-miR-3148	CLIP-seq
MIRT2389717	hsa-miR-3189-3p	CLIP-seq
MIRT2389718	hsa-miR-3647-3p	CLIP-seq
MIRT2389719	hsa-miR-3978	CLIP-seq
MIRT2556016	hsa-miR-4474-5p	CLIP-seq
MIRT2556017	hsa-miR-4677-5p	CLIP-seq
MIRT2556018	hsa-miR-4704-5p	CLIP-seq
MIRT2389720	hsa-miR-502-5p	CLIP-seq
MIRT1085145	hsa-miR-5095	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	17015834
GO:0001701	Process	In utero embryonic development	IEA
GO:0005515	Function	Protein binding	IPI	15601839, 16189514, 16888629, 17015834, 17510365, 18757741, 19424503, 19615732, 19706542, 20173742, 20452972, 20562859, 20600852, 21044950, 21145461, 21516116, 21903422, 21988832, 23274085, 24089205, 25416956, 25684205, 25910212, 26517842, 29792731, 30190310, 31169361, 31262713, 315
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	15601839, 19424503
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS	17015834
GO:0005884	Component	Actin filament	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	15572695, 15601839
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006979	Process	Response to oxidative stress	IDA	36075446
GO:0010506	Process	Regulation of autophagy	IDA	20452972
GO:0010506	Process	Regulation of autophagy	IEA
GO:0016234	Component	Inclusion body	IDA	20452972
GO:0016234	Component	Inclusion body	IEA
GO:0016567	Process	Protein ubiquitination	IDA	15601839, 15983046
GO:0016567	Process	Protein ubiquitination	IEA
GO:0030496	Component	Midbody	IDA	15166316
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IBA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	15601839, 15983046
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IEA
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	TAS	17015834
GO:0032991	Component	Protein-containing complex	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0034599	Process	Cellular response to oxidative stress	IDA	36075446
GO:0034599	Process	Cellular response to oxidative stress	IDA	15601839
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0034599	Process	Cellular response to oxidative stress	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	15601839
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	15601839
GO:0045604	Process	Regulation of epidermal cell differentiation	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	17015834
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	29658272
GO:0071353	Process	Cellular response to interleukin-4	IEA
GO:0097718	Function	Disordered domain specific binding	IEA
GO:0140416	Function	Transcription regulator inhibitor activity	IDA	17015834
GO:1902883	Process	Negative regulation of response to oxidative stress	IDA	11027288
GO:1902883	Process	Negative regulation of response to oxidative stress	IDA	15601839
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IBA
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IDA	15572695, 15601839

Other IDs

• MIM: 606016
• HGNC: 23177
• e!Ensembl: ENSG00000079999

Protein

• UniProt ID: Q14145
• Protein name: Kelch-like ECH-associated protein 1 (Cytosolic inhibitor of Nrf2) (INrf2) (Kelch-like protein 19)
• Protein function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that regulates the response to oxidative stress by targeting NFE2L2/NRF2 for ubiquitination (PubMed:14585973, PubMed:15379550, PubMed:15572695, PubMed:15601839, PubM
• PDB: 1U6D, 1ZGK, 2FLU, 3VNG, 3VNH, 3ZGC, 3ZGD, 4CXI, 4CXJ, 4CXT, 4IFJ, 4IFL, 4IFN, 4IN4, 4IQK, 4L7B, 4L7C, 4L7D, 4N1B, 4XMB, 5DAD, 5DAF, 5F72, 5GIT, 5NLB, 5WFL, 5WFV, 5WG1, 5WHL, 5WHO, 5WIY, 5X54, 6FFM, 6FMP, 6FMQ, 6HWS, 6LRZ, 6ROG, 6SP1, 6SP4, 6T7V, 6T7Z, 6TG8, 6TYM, 6TYP, 6UF0, 6V6Z, 6W66, 6W67, 6W68, 6W69
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00651	BTB	67 → 179	BTB/POZ domain	Domain
  PF07707	BACK	184 → 286	BTB And C-terminal Kelch	Domain
  PF01344	Kelch_1	318 → 359	Kelch motif	Repeat
  PF01344	Kelch_1	361 → 410	Kelch motif	Repeat
  PF01344	Kelch_1	412 → 457	Kelch motif	Repeat
  PF01344	Kelch_1	459 → 504	Kelch motif	Repeat
  PF01344	Kelch_1	506 → 551	Kelch motif	Repeat
  PF01344	Kelch_1	553 → 598	Kelch motif	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Broadly expressed, with highest levels in skeletal muscle. {ECO:0000269|PubMed:15379550}.
• Sequence:

  MQPDPRPSGAGACCRFLPLQSQCPEGAGDAVMYASTECKAEVTPSQHGNRTFSYTLEDHT
  KQAFGIMNELRLSQQLCDVTLQVKYQDAPAAQFMAHKVVLASSSPVFKAMFTNGLREQGM
  EVVSIEGIHPKVMERLIEFAYTASISMGEKCVLHVMNGAVMYQIDSVVRACSDFLVQQLD
  PSNAIGIANFAEQIGCVELHQRAREYIYMHFGEVAKQEEFFNLSHCQLVTLISRDDLNVR
  CESEVFHACINWVKYDCEQRRFYVQALLRAVRCHSLTPNFLQMQLQKCEILQSDSRCKDY
  LVKIFEELTLHKPTQVMPCRAPKVGRLIYTAGGYFRQSLSYLEAYNPSDGTWLRLADLQV
  PRSGLAGCVVGGLLYAVGGRNNSPDGNTDSSALDCYNPMTNQWSPCAPMSVPRNRIGVGV
  IDGHIYAVGGSHGCIHHNSVERYEPERDEWHLVAPMLTRRIGVGVAVLNRLLYAVGGFDG
  TNRLNSAECYYPERNEWRMITAMNTIRSGAGVCVLHNCIYAAGGYDGQDQLNSVERYDVE
  TETWTFVAPMKHRRSALGITVHQGRIYVLGGYDGHTFLDSVECYDPDTDTWSEVTRMTSG
  RSGVGVAVTMEPCRKQIDQQNCTC

• Sequence length: 624

Pathways

KEGG:

Ubiquitin mediated proteolysis
Parkinson disease
Pathways in cancer
Chemical carcinogenesis - reactive oxygen species
Hepatocellular carcinoma
Fluid shear stress and atherosclerosis

Reactome:

Ub-specific processing proteases
Neddylation
Antigen processing: Ubiquitination & Proteasome degradation

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
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY CIRRHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, EXTRAHEPATIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC PERSISTENT HEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLBLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATIC INSUFFICIENCY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS, CHRONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, BILIARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	-; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	20534738, 21489257, 29526543		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25531322, 25878335, 28967920, 30268834, 30411339, 30556750, 30639423, 31040157, 31323387, 31519898, 31813821, 31839815		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	30112024		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	28103505		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24450635	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	25612817		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22353756, 24102512, 25939382, 30954537		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31404577		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	BEFREE	30135655		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety disorder	Pubtator	35917404	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	29233793		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	36814154	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30657578		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30471087, 30890112		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	22503981		★☆☆☆☆ Found in Text Mining only
Beta thalassemia intermedia	beta Thalassemia	BEFREE	30521599		★☆☆☆☆ Found in Text Mining only
Bilateral hydronephrosis	Hydronephrosis	BEFREE	28233855		★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	CTD_human_DG	30026087		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	CTD_human_DG	30026087		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	18692501		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30719818		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34952628	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17822677, 19638449, 21926171, 23249627, 24681637, 25589623, 25976679, 27323010, 30692632, 30803422, 30941643, 31739165		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21489257, 21926171, 23249627, 25827424, 25976679, 26657794, 27323010, 28416489, 30803422, 39264897	Associate	★☆☆☆☆ Found in Text Mining only
Bronchitis	Bronchitis	BEFREE	30471087		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	31316111	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25505069, 26350055, 26497117, 29306329, 30803422, 33123313, 33754045, 37401495, 37688978	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30195190	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	31126053, 31159323	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	22348534, 23052169		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	26350055, 35524269	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	21897267	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23728943, 25896253, 27650414, 30042301, 30119680, 33162398, 35592903, 36419136, 38251077	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	26960398, 29535388, 33031101, 35287068, 35331190	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30719818		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16507366, 17020408, 18316592, 18555005, 19321346, 21610322, 21795997, 23047008, 23577226, 23824739, 25531322, 26922479, 28145866, 28504720, 28534518, 28967920, 29360538, 29812969, 30009666, 30556750, 30735010, 31159323, 31416841, 31695040		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26191276	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	26497117	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25564569, 28061437, 30896860	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	20534738, 23451093, 24322982, 24323028, 28177435, 30058679, 31221127, 31299995, 32272498, 32434476, 33229301, 35351670, 36453575	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26247201	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21676886, 28129239		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	29693453, 31726716		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	20837051, 26974313, 30538426		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	20064547, 22683333, 29399076		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	24525405	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar medulloblastoma	Cerebellar medulloblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28276088		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	26247201, 30058679		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	26247201		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	26247201, 30058679		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	31661353		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Cholestasis, Extrahepatic	Cholestasis	CTD_human_DG	30026087		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	22874821, 24480117, 26974313, 28502971, 29367259, 31349118		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30641209		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	29750408, 31411465		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29125494		★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25531322, 30473361		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	19706542	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22325485, 23455180, 28621229, 29053012, 29793178, 30825237, 31146002, 31796664		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22279539, 22325485, 23766854, 36038548, 37075346	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28061437, 30896860		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30468811		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	30880689		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30071128		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30386243		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29367259		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	24450635, 25674242, 34861061	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	25528168, 29367259, 31738935		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34861061	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28502971, 28913364, 30803422, 31101061		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	25674242, 31354905		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	Pubtator	25674242	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31645661		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	34861061	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	34861061	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	30112024		★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	29569716		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	21897267, 30711933		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	21897267, 30908539	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29538645		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	26149655		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	21676886		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	26341629	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26341629, 28760781, 29675925, 31755241	Associate	★☆☆☆☆ Found in Text Mining only
Euthyroid Goiter	Euthyroid Goiter	ORPHANET_DG	23724128		★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	BEFREE	28971839		★☆☆☆☆ Found in Text Mining only
Familial multinodular goiter	Multinodular Goiter	Orphanet			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28419832		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	23592516, 26919834		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29899699, 31819135		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	35112146	Associate	★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	29064158		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	30954537		★☆☆☆☆ Found in Text Mining only
Functional Gastrointestinal Disorders	Functional Gastrointestinal Disorders	CTD_human_DG	20404090		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	18692501, 30822690		★☆☆☆☆ Found in Text Mining only
gallbladder neoplasm	Neoplasm of gallbladder	LHGDN	18692501		★☆☆☆☆ Found in Text Mining only
gallbladder neoplasm	Neoplasm of gallbladder	CTD_human_DG	18692501		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	32839463	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Diseases	Gastrointestinal Diseases	CTD_human_DG	20404090		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	40684395	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21173573, 28805788		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	21173573	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28408149		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	24596130		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	27638861	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	25674242		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	25135868		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	23249627	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	28533375		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	32369110	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	20122947, 28233855		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	28971839		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	30466006	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	36814575	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	31541481		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	31021398		★☆☆☆☆ Found in Text Mining only
Keratoma	Keratoma	CTD_human_DG	20404090		★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	CTD_human_DG	20404090		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis Blennorrhagica	Keratosis Blennorrhagica	CTD_human_DG	20404090		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	27804998, 28061437, 28502971, 29064158, 31279986		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	28061437	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	22200442		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29352001, 31223046, 31349118		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	28061437	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	27840932	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	26870816	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23077289, 25323587		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23728943, 24379610, 25135868, 25783764, 25896253, 27246794, 27650414, 30119680, 30619751, 31367013, 31398338		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	24636985, 29852187		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	28333129	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	30466006	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	30619751		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	19646463		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	36613859	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	16507366, 18316592, 18555005, 18829555		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17020408, 21795997, 28145866, 29089357, 29474635, 31126053, 31159323, 32327612, 32571982, 33071215, 33139492, 33264619, 34065616, 34740862, 34952628, 35351670, 35459868, 36264074, 38184997, 39701102, 40127850	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	21177379, 29526543, 31126053, 31159323, 31519898		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27323010, 34761587	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	29119264		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	23052169		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	21173573		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	24596130		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17822677, 19638449, 21489257, 21926171, 23249627, 24681637, 25589623, 25976679, 27323010, 30692632, 30803422, 30941643, 31739165		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	21897267, 30711933		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	18692501, 22348534, 30822690		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	CTD_human_DG	18692501		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	28061437		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16507366, 17020408, 18316592, 18555005, 19321346, 21610322, 21795997, 23047008, 23577226, 23824739, 25531322, 25850996, 26922479, 28145866, 28504720, 28534518, 28967920, 29360538, 29812969, 30009666, 30556750, 30735010, 31159323, 31416841, 31695040		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	25114896, 28129239		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21489257, 26117456, 26980696, 31511020		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	24763052, 29610475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30811526		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	31428048		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30719818		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15572695, 15883370, 17020408, 18692501, 18757741, 19321346, 19608619, 19732782, 19967722, 20638930, 22348534, 22684020, 22743616, 22752583, 23128449, 23382044, 24322982, 24599821, 25582950, 26341629, 26536456, 26551706, 26657794, 27317373, 28315327, 28415030, 28523248, 28693803, 28746889, 28805788, 28899208, 29367259, 29428410, 29930914, 30015918, 30150714, 30411339, 30556750, 30692632, 30760522, 31262713, 31323387, 31661353, 31726716, 31796664		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	29306329		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	26247201, 30058679		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25531322, 30473361		★☆☆☆☆ Found in Text Mining only
Medulloepithelioma	Medulloepithelioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27045471, 27170270		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	27045471	Associate	★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	31802848		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	35917404	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30386243		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29119264		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30352880		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30021365		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	27170270		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	30386243		★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	22353756		★☆☆☆☆ Found in Text Mining only
Multinodular goiter	Multinodular goiter	BEFREE	23724128		★☆☆☆☆ Found in Text Mining only
Multinodular goiter	Multinodular goiter	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	32241259, 36571271	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	26950655		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31201843		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	27573160, 30468811		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	29428410		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	Pubtator	36128875	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	34450259	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17020408, 18692501, 19818716, 20213688, 20440267, 20534738, 21173573, 21248763, 22089114, 23047008, 23382044, 23455180, 23577226, 24307696, 24322982, 25048629, 25531322, 25589623, 25783764, 26247201, 26301506, 26657794, 27663899, 27923066, 28177435, 28504720, 28760781, 29053012, 29128526, 29306329, 29316436, 29330291, 29526543, 29569716, 29675925, 30411339, 30896860, 31416841, 31678831, 31796664, 31802896		★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	28233855, 29542224		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	34861061	Associate	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	30267739		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36436316	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	27554286, 29927029	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21295136, 25612817, 27554286, 29407955, 29927029, 31330225, 31726716		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31838177		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17020408, 18829555, 19345732, 19638449, 19940992, 20213688, 20534738, 21610322, 22089114, 22249257, 22684019, 22684020, 26711467, 27029077, 27045471, 27552339, 27601007, 29050246, 29330291, 29812969, 31319993, 31323387, 31416841, 31455821, 31548347, 31659154, 31695040, 31751303		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	22684020		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	28676836		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29566366, 30657578		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34861061	Associate	★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	29569716		★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	31002009		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	26932277	Associate	★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	23117207, 23612225		★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	36193504, 40289338	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28515152		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36965071	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28129239		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25114896	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21489257, 26117456, 26980696, 31511020		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21489257, 25879528, 26497117, 27756327, 31785531, 33446568	Associate	★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	24138990, 29469959		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	16092930, 24450635, 29927029, 37947628	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	20196834, 29927029, 30618742		★☆☆☆☆ Found in Text Mining only
Persistent Polyclonal B-Cell Lymphocytosis	Persistent Polyclonal B-Cell Lymphocytosis	BEFREE	31527833		★☆☆☆☆ Found in Text Mining only
Pilomatrixoma	Pilomatrixoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pleurisy	Pleuritis	BEFREE	31552548		★☆☆☆☆ Found in Text Mining only
Pleuropulmonary blastoma	Pleuropulmonary blastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	28333129		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	CTD_human_DG	30026087		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	24763052, 29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33356808	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29506519, 29927029	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	19671143		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	28061437		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28061437, 30896860		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29197622, 29248720		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	31312394		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30538709, 31475364		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	23590302		★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	35301413	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	23052169		★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Secondary Biliary Cholangitis	Biliary Cholangitis	CTD_human_DG	30026087		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	36913799	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	22609006, 30465941		★☆☆☆☆ Found in Text Mining only
Sertoli cell neoplasm	Sertoli cell neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	31199602, 35287068, 36044718	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19967722, 20534738, 24386210, 29306329, 30411339		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24307696, 26341629, 28760781, 29675925, 30409900, 31755241		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23451093, 24386210, 27840932, 29053175, 29306329, 33087706, 34212035, 35945195	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	24322982		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	29538645, 30592708		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28419832		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30811526		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30811526, 34098867, 35237380	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30890112		★☆☆☆☆ Found in Text Mining only
Testicular Diseases	Testicular Diseases	BEFREE	30836114		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	24138990	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	31428048		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31428048		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	24138990	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue Neoplasms	BEFREE	23250896		★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	17020408		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	23249627		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	23249627, 37380368	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	37838086	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	29119264		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	29094331		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37108769	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	26247201	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	26247201, 30058679	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34761587	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	37773689	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	22609006		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	40723924	Associate	★☆☆☆☆ Found in Text Mining only