GPX4 (glutathione peroxidase 4)

Gene

• Entrez ID: 2879
• Gene name: Glutathione peroxidase 4
• Gene symbol: GPX4
• Synonyms (NCBI Gene): GPx-4, GSHPx-4, MCSP, PHGPx, SMDS, snGPx, snPHGPx
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozy

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs769967246	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs775146234	G>A	Pathogenic	Intron variant
rs1599808202	GCACATGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1599810980	TTTTC>-	Pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029349	hsa-miR-26b-5p	Microarray	19088304
MIRT046107	hsa-miR-124-3p	CLASH	23622248
MIRT735670	hsa-miR-182-5p	Luciferase reporter assay, Western blotting, qRT-PCR, In situ hybridization	33116120
MIRT755504	hsa-miR-324-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP), Flow cytometry	38947389
MIRT755995	hsa-miR?15a	Luciferase reporter assay, Western blotting, qRT-PCR, RNA pull down assay	35069876
MIRT1032559	hsa-miR-1287	CLIP-seq
MIRT1032560	hsa-miR-1290	CLIP-seq
MIRT1032561	hsa-miR-1908	CLIP-seq
MIRT1032562	hsa-miR-1972	CLIP-seq
MIRT1032563	hsa-miR-214	CLIP-seq
MIRT1032564	hsa-miR-3167	CLIP-seq
MIRT1032565	hsa-miR-342-5p	CLIP-seq
MIRT1032566	hsa-miR-3619-5p	CLIP-seq
MIRT1032567	hsa-miR-3649	CLIP-seq
MIRT1032568	hsa-miR-3667-3p	CLIP-seq
MIRT1032569	hsa-miR-4447	CLIP-seq
MIRT1032570	hsa-miR-4457	CLIP-seq
MIRT1032571	hsa-miR-4472	CLIP-seq
MIRT1032572	hsa-miR-4488	CLIP-seq
MIRT1032573	hsa-miR-4530	CLIP-seq
MIRT1032574	hsa-miR-4651	CLIP-seq
MIRT1032575	hsa-miR-4664-5p	CLIP-seq
MIRT1032576	hsa-miR-4676-5p	CLIP-seq
MIRT1032577	hsa-miR-4690-5p	CLIP-seq
MIRT1032578	hsa-miR-4691-5p	CLIP-seq
MIRT1032579	hsa-miR-4697-5p	CLIP-seq
MIRT1032580	hsa-miR-575	CLIP-seq
MIRT1032581	hsa-miR-608	CLIP-seq
MIRT1032582	hsa-miR-615-3p	CLIP-seq
MIRT1032583	hsa-miR-624	CLIP-seq
MIRT1032584	hsa-miR-663	CLIP-seq
MIRT1032585	hsa-miR-761	CLIP-seq
MIRT1032586	hsa-miR-876-5p	CLIP-seq
MIRT1032562	hsa-miR-1972	CLIP-seq
MIRT1032567	hsa-miR-3649	CLIP-seq
MIRT1032568	hsa-miR-3667-3p	CLIP-seq
MIRT1032577	hsa-miR-4690-5p	CLIP-seq
MIRT1032578	hsa-miR-4691-5p	CLIP-seq
MIRT2238724	hsa-miR-1226	CLIP-seq
MIRT1032559	hsa-miR-1287	CLIP-seq
MIRT1032560	hsa-miR-1290	CLIP-seq
MIRT1032561	hsa-miR-1908	CLIP-seq
MIRT2238725	hsa-miR-1913	CLIP-seq
MIRT1032563	hsa-miR-214	CLIP-seq
MIRT1032564	hsa-miR-3167	CLIP-seq
MIRT2238726	hsa-miR-3189-5p	CLIP-seq
MIRT755504	hsa-miR-324-3p	CLIP-seq
MIRT1032565	hsa-miR-342-5p	CLIP-seq
MIRT2238727	hsa-miR-346	CLIP-seq
MIRT1032566	hsa-miR-3619-5p	CLIP-seq
MIRT1032567	hsa-miR-3649	CLIP-seq
MIRT1032568	hsa-miR-3667-3p	CLIP-seq
MIRT2238728	hsa-miR-4464	CLIP-seq
MIRT2238729	hsa-miR-4527	CLIP-seq
MIRT1032573	hsa-miR-4530	CLIP-seq
MIRT1032575	hsa-miR-4664-5p	CLIP-seq
MIRT1032578	hsa-miR-4691-5p	CLIP-seq
MIRT2238730	hsa-miR-4748	CLIP-seq
MIRT2238731	hsa-miR-4758-3p	CLIP-seq
MIRT2238732	hsa-miR-634	CLIP-seq
MIRT2238733	hsa-miR-657	CLIP-seq
MIRT1032584	hsa-miR-663	CLIP-seq
MIRT1032585	hsa-miR-761	CLIP-seq
MIRT1032586	hsa-miR-876-5p	CLIP-seq
MIRT1032567	hsa-miR-3649	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CREM	Unknown	15225122
TFAP2A	Unknown	10428483

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004601	Function	Peroxidase activity	IEA
GO:0004602	Function	Glutathione peroxidase activity	IBA
GO:0004602	Function	Glutathione peroxidase activity	IDA	36608588
GO:0004602	Function	Glutathione peroxidase activity	IEA
GO:0004602	Function	Glutathione peroxidase activity	IMP	17630701
GO:0005515	Function	Protein binding	IPI	23355646
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IDA	11115402
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006644	Process	Phospholipid metabolic process	TAS	8039723
GO:0006915	Process	Apoptotic process	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0006979	Process	Response to oxidative stress	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0008430	Function	Selenium binding	IEA
GO:0016358	Process	Dendrite development	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019369	Process	Arachidonate metabolic process	IDA	11115402
GO:0019372	Process	Lipoxygenase pathway	IDA	11115402
GO:0021549	Process	Cerebellum development	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032991	Component	Protein-containing complex	IMP	17630701
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042759	Process	Long-chain fatty acid biosynthetic process	TAS
GO:0042802	Function	Identical protein binding	IMP	17630701
GO:0047066	Function	Phospholipid-hydroperoxide glutathione peroxidase activity	IBA
GO:0047066	Function	Phospholipid-hydroperoxide glutathione peroxidase activity	IDA	11115402, 36608588
GO:0047066	Function	Phospholipid-hydroperoxide glutathione peroxidase activity	IEA
GO:0047066	Function	Phospholipid-hydroperoxide glutathione peroxidase activity	ISS
GO:0047066	Function	Phospholipid-hydroperoxide glutathione peroxidase activity	TAS
GO:0051258	Process	Protein polymerization	IMP	17630701
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0098869	Process	Cellular oxidant detoxification	IEA
GO:0110076	Process	Negative regulation of ferroptosis	IEA
GO:0110076	Process	Negative regulation of ferroptosis	ISS

Other IDs

• MIM: 138322
• HGNC: 4556
• e!Ensembl: ENSG00000167468

Protein

• UniProt ID: P36969
• Protein name: Phospholipid hydroperoxide glutathione peroxidase GPX4 (PHGPx) (EC 1.11.1.12) (Glutathione peroxidase 4) (GPx-4) (GSHPx-4) (EC 1.11.1.9)
• Protein function: Essential antioxidant peroxidase that directly reduces phospholipid hydroperoxide even if they are incorporated in membranes and lipoproteins (By similarity). Can also reduce cholesterol hydroperoxide and thymine hydroperoxide (By similarity). P
• PDB: 2GS3, 2OBI, 5H5Q, 5H5R, 5H5S, 6ELW, 6HKQ, 6HN3, 7L8K, 7L8L, 7L8M, 7L8Q, 7L8R, 7U4I, 7U4J, 7U4K, 7U4L, 7U4M, 7U4N, 8Q8J, 8Q8N
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00255	GSHPx	41 → 148	Glutathione peroxidase	Family

• Tissue specificity: TISSUE SPECIFICITY: Present primarily in testis. Expressed in platelets (at protein level) (PubMed:11115402). {ECO:0000269|PubMed:11115402, ECO:0000269|PubMed:9705830}.
• Sequence:

  MSLGRLCRLLKPALLCGALAAPGLAGTMCASRDDWRCARSMHEFSAKDIDGHMVNLDKYR
  GFVCIVTNVASQUGKTEVNYTQLVDLHARYAECGLRILAFPCNQFGKQEPGSNEEIKEFA
  AGYNVKFDMFSKICVNGDDAHPLWKWMKIQPKGKGILGNAIKWNFTKFLIDKNGCVVKRY
  GPMEEPLVIEKDLPHYF

• Sequence length: 197

Pathways

KEGG:

Glutathione metabolism
Arachidonic acid metabolism
Metabolic pathways
Ferroptosis

Reactome:

Synthesis of 12-eicosatetraenoic acid derivatives
Synthesis of 15-eicosatetraenoic acid derivatives
Biosynthesis of D-series resolvins
Biosynthesis of E-series 18(S)-resolvins
Biosynthesis of aspirin-triggered D-series resolvins
Biosynthesis of E-series 18(R)-resolvins

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
GPX4-related disorder	Likely pathogenic	rs763745871	RCV003407815	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondylometaphyseal dysplasia, Sedaghatian type	Likely pathogenic; Pathogenic	rs763745871, rs772394824, rs1599810980, rs769967246, rs2512693319, rs1555716575	RCV001806422 RCV003152779 RCV000128832 RCV000128833 RCV003154311 RCV001844185	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTORCHIDISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, MALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL CAVITY POLYP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abdominal Cryptorchidism	Cryptorchidism	CTD_human_DG	26050606		★☆☆☆☆ Found in Text Mining only
Acquired porencephaly	Acquired Porencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	31800616		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	17052796		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	29463878		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	31611400		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35449212	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	BEFREE	31248967		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28130223		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28627418		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28627418		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	30188935		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	31611400		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	18215741		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	35003389	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	18215741		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	27401946, 30700637		★☆☆☆☆ Found in Text Mining only
Basal Cell Cancer	Basal Cell Neoplasm	GWASCAT_DG	31174203		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	GWASCAT_DG	31174203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm	Basal Cell Neoplasm	GWASCAT_DG	31174203		★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	CTD_human_DG	26050606		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	31590928	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	37675635	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11295525, 17634480, 21045263, 24278290, 31173262		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	17634480		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12868489, 20003265, 24278290, 33522578, 34059009, 34482070, 35906899, 37505141, 39862136	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	21045263	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	36626251	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26708178, 32471991, 33931597, 35242200, 35896364, 35995846, 36825585, 36989117, 37008632, 37011699, 37965730, 39616235	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38393890	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17052796, 31542233		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	36485069	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	38057506	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33850477, 37807410	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	35383293	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	30599773, 36012132	Associate	★☆☆☆☆ Found in Text Mining only
Cataract posterior polar 1	Congenital cataract	Pubtator	38110879	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	LHGDN	15978628		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	22158110		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35968603, 36400758	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31316058		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	CTD_human_DG	26042203		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	15274299, 35208621, 38065948	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	18850177		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20378690, 30524291		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	18850177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35836259, 36552870, 37086630, 37147883, 37658132, 37875418, 40084254	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	20304815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	40380264	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CTD_human_DG	26050606		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	30286747		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	31692559		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29331597		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30599773		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30599773		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	30599773	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34762602	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	23919599, 30599773, 30959073		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	33565572	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34545296, 36275902, 37150518	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	23919599		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	30959073		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	34487731	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	24439385, 29463878		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	LHGDN	17516241		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	39424480	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34170849, 35442481, 39794059	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	25947891		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	32679649	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	35053196	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35053196, 35872956, 36576648, 37203411	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	22158110		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	9187662		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	9187662		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	CTD_human_DG	26042203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty liver	Pubtator	33221744	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Disease	Fatty Liver	BEFREE	31610178		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	31611400		★☆☆☆☆ Found in Text Mining only
Focal lissencephaly	Focal lissencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	38110356	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32452511, 38182643	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28552540		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35396498, 37872147	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36164395	Inhibit	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	36147466	Inhibit	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	30339884		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	30599773	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	CTD_human_DG	20304815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	20304815		★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	34014839	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	23094041		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	25218830		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	25218830		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	31924810	Associate	★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	31256343		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	36050447	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31534007		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28212525		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	36951540, 37329158, 37979732	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	17516241		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	30921410, 31248967		★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	21733339, 27256326		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	23919599		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	36275902	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	25402683		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	34761566, 36246395	Associate	★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	20304815		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	36453238	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	38032290	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29515790		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	35562678	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17052796		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	16143398		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	29463878		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	30339884		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11295525, 17634480, 21045263, 24278290, 31173262		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	17634480		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17052796, 31542233		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16409129		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23143801, 24711484		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	29852199		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14695942, 17516241, 21045263, 24439385, 26446998, 29088702, 29375387, 29862858, 30535490, 31527591, 31556117, 31634900, 31775041		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	17634480		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11677038, 17634480		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17634480		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	17634480		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	17634480		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19383853, 28678785, 38097548	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19738072, 20309546, 21092273, 30769764, 31661001		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29331597		★☆☆☆☆ Found in Text Mining only
Metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	31730859	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	39664583	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30289974		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35732787	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	20304815		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31685805		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35229543	Associate	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	40084286	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	GWASCAT_DG	30643255		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	35105963	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	40380264	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17516241, 29088702, 29515790, 31556117, 31594301		★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	11168930	Inhibit	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30289974		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	34011924, 35484422, 38266058	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30854078, 31542233		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31312657		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31312657	Inhibit	★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	32378537	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30286747, 35101656, 38062071	Associate	★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	36254861	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	38287843	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	37711054, 40691196	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23965899	Associate	★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	14695942		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16409129		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35859150, 36061308	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	35062064	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	19146923, 23268326, 38149556	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28627418, 30998939, 31467572		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson disease	Pubtator	39273702	Associate	★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	25471206		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	35003389	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	30188935, 37675635	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	30188935		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	30188935	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	40057801	Associate	★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	31692559		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23143801, 24711484		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23143801, 24711484, 28678785, 36720852, 36799474	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	36275902	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	29852199		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	34831227	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	34934311	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31140862, 31534007		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24439385		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	27473727		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	40084286	Associate	★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	28678785	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	30921410	Associate	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	35910848, 36913799	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30001526		★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	29852199		★☆☆☆☆ Found in Text Mining only
Spondylometaphyseal dysplasia Sedaghatian type	Spondylometaphyseal dysplasia	Pubtator	34931062	Associate	★☆☆☆☆ Found in Text Mining only
Spondylometaphyseal dysplasia, Sedaghatian type	Spondylometaphyseal Dysplasia	BEFREE	24706940, 29199464		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylometaphyseal dysplasia, Sedaghatian type	Spondylometaphyseal Dysplasia	GENOMICS_ENGLAND_DG	24706940		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylometaphyseal dysplasia, Sedaghatian type	Spondylometaphyseal Dysplasia	ORPHANET_DG	24706940		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylometaphyseal dysplasia, Sedaghatian type	Spondylometaphyseal Dysplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylometaphyseal dysplasia, Sedaghatian type	Spondylometaphyseal Dysplasia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylometaphyseal dysplasia, Sedaghatian type	Spondylometaphyseal Dysplasia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous cell carcinoma	Carcinoma	BEFREE	10428483, 12958179		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	12958179		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28904321, 38003537	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CTD_human_DG	26042203		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26330360, 35534546, 35938505, 36237989, 37649598, 37768308, 38070189, 39273151	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	38393890	Stimulate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	37324938	Associate	★☆☆☆☆ Found in Text Mining only
Strudwick syndrome	Strudwick Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	34767591	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	28499373		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	36371529	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	36626251	Stimulate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36257316, 37215985, 37822991, 40613296	Associate	★☆☆☆☆ Found in Text Mining only
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	BEFREE	16169245		★☆☆☆☆ Found in Text Mining only
Unilateral Cryptorchidism	Cryptorchidism	CTD_human_DG	26050606		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36453257, 36584429, 36632137	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	23934705	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin E Deficiency	Vitamin E Deficiency	BEFREE	27752918		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	33690107	Associate	★☆☆☆☆ Found in Text Mining only