PRDX1 (peroxiredoxin 1)

Gene

• Entrez ID: 5052
• Gene name: Peroxiredoxin 1
• Gene symbol: PRDX1
• Synonyms (NCBI Gene): MSP23, NKEF-A, NKEFA, PAG, PAGA, PAGB, PRX1, PRXI, TDPX2
• Chromosome: 1
• Chromosome location: 1p34.1
• Summary: This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of C

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019836	hsa-miR-375	Microarray	20215506
MIRT025797	hsa-miR-7-5p	Sequencing	20371350
MIRT048535	hsa-miR-100-5p	CLASH	23622248
MIRT046315	hsa-miR-23b-3p	CLASH	23622248
MIRT041864	hsa-miR-484	CLASH	23622248
MIRT040747	hsa-miR-18a-3p	CLASH	23622248
MIRT036544	hsa-miR-1225-3p	CLASH	23622248
MIRT438052	hsa-miR-510-5p	Luciferase reporter assay, qRT-PCR, Western blot	23971998
MIRT438052	hsa-miR-510-5p	Luciferase reporter assay, qRT-PCR, Western blot	23971998
MIRT1260386	hsa-miR-3617	CLIP-seq
MIRT1260387	hsa-miR-4312	CLIP-seq
MIRT1260388	hsa-miR-4496	CLIP-seq
MIRT1260389	hsa-miR-4640-3p	CLIP-seq
MIRT1260390	hsa-miR-4763-5p	CLIP-seq
MIRT1260391	hsa-miR-641	CLIP-seq
MIRT1260392	hsa-miR-1280	CLIP-seq
MIRT1260393	hsa-miR-1972	CLIP-seq
MIRT1260394	hsa-miR-2117	CLIP-seq
MIRT1260395	hsa-miR-3685	CLIP-seq
MIRT1260396	hsa-miR-374c	CLIP-seq
MIRT1260397	hsa-miR-4273	CLIP-seq
MIRT1260398	hsa-miR-4293	CLIP-seq
MIRT1260399	hsa-miR-4650-5p	CLIP-seq
MIRT1260400	hsa-miR-4677-5p	CLIP-seq
MIRT1260390	hsa-miR-4763-5p	CLIP-seq
MIRT1260401	hsa-miR-485-3p	CLIP-seq
MIRT1260402	hsa-miR-487a	CLIP-seq
MIRT1260403	hsa-miR-499-3p	CLIP-seq
MIRT1260404	hsa-miR-499a-3p	CLIP-seq
MIRT1260405	hsa-miR-510	CLIP-seq
MIRT1260406	hsa-miR-596	CLIP-seq
MIRT1260407	hsa-miR-604	CLIP-seq
MIRT1260408	hsa-miR-647	CLIP-seq
MIRT1260409	hsa-miR-655	CLIP-seq
MIRT2076689	hsa-miR-1264	CLIP-seq
MIRT1260396	hsa-miR-374c	CLIP-seq
MIRT2076690	hsa-miR-3940-5p	CLIP-seq
MIRT2076691	hsa-miR-4264	CLIP-seq
MIRT2076692	hsa-miR-4277	CLIP-seq
MIRT2076693	hsa-miR-4506	CLIP-seq
MIRT2076694	hsa-miR-4507	CLIP-seq
MIRT2076695	hsa-miR-4797-3p	CLIP-seq
MIRT2076696	hsa-miR-581	CLIP-seq
MIRT1260409	hsa-miR-655	CLIP-seq
MIRT1260393	hsa-miR-1972	CLIP-seq
MIRT1260386	hsa-miR-3617	CLIP-seq
MIRT2599980	hsa-miR-3663-5p	CLIP-seq
MIRT1260395	hsa-miR-3685	CLIP-seq
MIRT1260396	hsa-miR-374c	CLIP-seq
MIRT1260398	hsa-miR-4293	CLIP-seq
MIRT1260387	hsa-miR-4312	CLIP-seq
MIRT1260388	hsa-miR-4496	CLIP-seq
MIRT1260389	hsa-miR-4640-3p	CLIP-seq
MIRT1260399	hsa-miR-4650-5p	CLIP-seq
MIRT1260390	hsa-miR-4763-5p	CLIP-seq
MIRT1260401	hsa-miR-485-3p	CLIP-seq
MIRT1260402	hsa-miR-487a	CLIP-seq
MIRT1260403	hsa-miR-499-3p	CLIP-seq
MIRT1260404	hsa-miR-499a-3p	CLIP-seq
MIRT1260405	hsa-miR-510	CLIP-seq
MIRT1260406	hsa-miR-596	CLIP-seq
MIRT1260391	hsa-miR-641	CLIP-seq
MIRT1260409	hsa-miR-655	CLIP-seq
MIRT1260393	hsa-miR-1972	CLIP-seq
MIRT1260386	hsa-miR-3617	CLIP-seq
MIRT2599980	hsa-miR-3663-5p	CLIP-seq
MIRT1260395	hsa-miR-3685	CLIP-seq
MIRT1260396	hsa-miR-374c	CLIP-seq
MIRT1260398	hsa-miR-4293	CLIP-seq
MIRT1260387	hsa-miR-4312	CLIP-seq
MIRT1260388	hsa-miR-4496	CLIP-seq
MIRT1260389	hsa-miR-4640-3p	CLIP-seq
MIRT1260399	hsa-miR-4650-5p	CLIP-seq
MIRT1260390	hsa-miR-4763-5p	CLIP-seq
MIRT1260401	hsa-miR-485-3p	CLIP-seq
MIRT1260402	hsa-miR-487a	CLIP-seq
MIRT1260403	hsa-miR-499-3p	CLIP-seq
MIRT1260404	hsa-miR-499a-3p	CLIP-seq
MIRT1260405	hsa-miR-510	CLIP-seq
MIRT1260406	hsa-miR-596	CLIP-seq
MIRT1260391	hsa-miR-641	CLIP-seq
MIRT1260409	hsa-miR-655	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000302	Process	Response to reactive oxygen species	IEA
GO:0001501	Process	Skeletal system development	TAS	8089076
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0004601	Function	Peroxidase activity	IDA	11986303
GO:0004601	Function	Peroxidase activity	IEA
GO:0004601	Function	Peroxidase activity	TAS
GO:0005515	Function	Protein binding	IPI	15105503, 17909037, 18172504, 19369943, 21044950, 21969592, 21988832, 23386615, 27607350, 28671123, 32814053, 33961781
GO:0005615	Component	Extracellular space	HDA	22664934, 23580065
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IDA	17603937
GO:0005737	Component	Cytoplasm	IDA	17603937
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006979	Process	Response to oxidative stress	IBA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0007249	Process	Canonical NF-kappaB signal transduction	IEA
GO:0008283	Process	Cell population proliferation	TAS	8089076
GO:0008379	Function	Thioredoxin peroxidase activity	IBA
GO:0008379	Function	Thioredoxin peroxidase activity	IDA	18606987
GO:0016209	Function	Antioxidant activity	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019430	Process	Removal of superoxide radicals	IBA
GO:0019430	Process	Removal of superoxide radicals	IEA
GO:0030101	Process	Natural killer cell activation	IDA	8462106
GO:0032872	Process	Regulation of stress-activated MAPK cascade	IEA
GO:0034101	Process	Erythrocyte homeostasis	IEA
GO:0042267	Process	Natural killer cell mediated cytotoxicity	IEA
GO:0042470	Component	Melanosome	IEA
GO:0042744	Process	Hydrogen peroxide catabolic process	IBA
GO:0042744	Process	Hydrogen peroxide catabolic process	IDA	11986303
GO:0042744	Process	Hydrogen peroxide catabolic process	IDA	18606987
GO:0042802	Function	Identical protein binding	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045321	Process	Leukocyte activation	IBA
GO:0045454	Process	Cell redox homeostasis	IBA
GO:0048144	Process	Fibroblast proliferation	IEA
GO:0051920	Function	Peroxiredoxin activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708, 20458337, 23533145
GO:0140824	Function	Thioredoxin-dependent peroxiredoxin activity	IEA
GO:1901222	Process	Regulation of non-canonical NF-kappaB signal transduction	IEA

Other IDs

• MIM: 176763
• HGNC: 9352
• e!Ensembl: ENSG00000117450

Protein

• UniProt ID: Q06830
• Protein name: Peroxiredoxin-1 (EC 1.11.1.24) (Natural killer cell-enhancing factor A) (NKEF-A) (Proliferation-associated gene protein) (PAG) (Thioredoxin peroxidase 2) (Thioredoxin-dependent peroxide reductase 2) (Thioredoxin-dependent peroxiredoxin 1)
• Protein function: Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrog
• PDB: 2RII, 3HY2, 4XCS, 7LJ1, 7WET, 7WEU, 8X71, 8X73, 8Z54, 8Z55, 8Z56, 8Z57, 8Z58, 9B7A
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00578	AhpC-TSA	8 → 142	AhpC/TSA family	Domain
  PF10417	1-cysPrx_C	162 → 197	C-terminal domain of 1-Cys peroxiredoxin	Domain

• Sequence:

  MSSGNAKIGHPAPNFKATAVMPDGQFKDISLSDYKGKYVVFFFYPLDFTFVCPTEIIAFS
  DRAEEFKKLNCQVIGASVDSHFCHLAWVNTPKKQGGLGPMNIPLVSDPKRTIAQDYGVLK
  ADEGISFRGLFIIDDKGILRQITVNDLPVGRSVDETLRLVQAFQFTDKHGEVCPAGWKPG
  SDTIKPDVQKSKEYFSKQK

• Sequence length: 199

Pathways

KEGG:

Peroxisome
Cobalamin transport and metabolism
Amoebiasis

Reactome:

Detoxification of Reactive Oxygen Species
TP53 Regulates Metabolic Genes

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
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC	Pathogenic	rs1379672870	RCV000585793	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASBESTOSIS	—	CTD, Disgenet CTD, 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
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cobalamin C disease	Benign	ClinVar ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ESOPHAGEAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLC	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRDX1-related disorder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	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	23065574, 28849259		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25607351		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	31533285		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33049317	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	23595628		★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	30521599	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	30521599		★☆☆☆☆ Found in Text Mining only
Anemia, Megaloblastic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25426613		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	21273562	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	23241402		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	19205907, 28605287, 29287777		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	31298537		★☆☆☆☆ Found in Text Mining only
Asbestosis	Asbestosis	CTD_human_DG	22537621		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	20307276	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	29582423		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	19205907, 28605287, 29287777		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	22051046	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	30521599		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	30521599	Associate	★☆☆☆☆ Found in Text Mining only
Beta thalassemia intermedia	beta Thalassemia	BEFREE	30521599		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	30521599		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	20307276	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19566940, 23971998, 25454514, 29190947, 30287919, 31419957, 31595162		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	19566940	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20631257, 25011585, 28398822, 31412312, 31559796, 40496857	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27259998	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	24316730		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	25188299	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	16254121, 26478675, 33771165, 35705729, 37356603, 39457014	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	20113375	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16414373, 16635084, 17084559, 18413821, 22022930, 23615915		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	21980378	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	25426613	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	17192052, 23065574, 24009050	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30464523, 31559796		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	27924073		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	27924073	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27924073		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	31533285		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	22446018	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lung disease	Lung Diseases	BEFREE	11509333		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	21975116		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	21975116	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29434945		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12444601		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18549262		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29673884		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18549262, 29687844, 33712558, 35460420	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31298537		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29410271		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	25556649		★☆☆☆☆ Found in Text Mining only
Cystathioninemia	Cystathioninemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	27792866		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28849194		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26301632		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	11771746, 12650976		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	12650976		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	32106990	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	23384343		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	30464523		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	17671705, 21468086, 22215146, 27650197		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	CTD_human_DG	15986332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	16278420		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	17671705, 21468086, 22215146, 27650197		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	15986332, 21517111, 24009050	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosarcoma	Fibrosarcoma	BEFREE	29908016		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	17586524, 18296734		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	24316730		★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	31901729	Inhibit	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	23065574	Associate	★☆☆☆☆ Found in Text Mining only
Gamma-cystathionase deficiency	Gamma-Cystathionase Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Geleophysic dysplasia	Geleophysic Dysplasia	BEFREE	30738849		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22158042, 23595628, 29582423, 30322114		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24728830	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37566013	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23595628, 30322114		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	12444601, 23595628, 25484280, 28481733, 29582423		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37031183	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	33916948	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	30567989	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	27582029		★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19016754	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20113375	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31573044		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	BEFREE	17976536		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	31613423		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30581529	Associate	★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	31525533		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	25162226		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15703822, 16254121, 23277276, 25188510, 29377617		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	27517622		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	14703116, 17606720		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	22537621		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23065574, 23914992, 29656298	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	26636537, 26752561	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	26752561		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	18070987		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19566940, 23971998, 25454514, 29190947, 30287919, 31419957, 31595162		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CTD_human_DG	15986332		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	17671705, 21468086, 22215146, 27650197		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	23065574		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	31298537		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	26478675		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16414373, 16635084, 17084559, 18413821, 23615915, 27653015, 31559796		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	22537621		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	25162226		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30464523, 31559796		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25426613, 30464602		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17909037, 19737972, 21031435, 23185615, 30981892, 31477836		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29656298, 30886505		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	15955662		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17234762, 17606720, 21031435, 22022930, 24009050, 25162226, 26689287, 27517622, 27653015, 29541251, 30177848, 30464523, 30661989, 31185618, 31429766, 31559796		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12444601		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	18070987		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	31533285		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	31530797		★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia with homocystinuria	Methylmalonic acidemia	Pubtator	34215320	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic acidemia with homocystinuria	Methylmalonic Acidemia With Homocystinuria	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC	Methylmalonic acidemia with homocystinuria	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	29549622		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	29549622		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	18565146, 28506771		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	22438257		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	29410271		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15955662, 17084559, 17234762, 18413821, 19556853, 19566940, 20732753, 21031435, 21863242, 22158042, 23065574, 23615915, 24009050, 25162226, 25193114, 25607351, 26707944, 27259998, 28398822, 29088845, 29190947, 29288085, 29492195, 29582423, 29673884, 29908016, 30287919, 30486489, 31298537, 31429766, 31477836, 31559796		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18751929		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28241840		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	17094902		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18413821		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	20631257		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28569405		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29492195, 29908016		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29908016	Inhibit	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30464523, 31559796		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31559796	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25426613, 30464602		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	25426613		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25426613	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	24316730		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28823893		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	33868574	Stimulate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	21975116		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	21975116	Stimulate	★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	12650976		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	23382852		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	33964924	Associate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	31530797		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17909037, 19737972, 21031435, 23185615, 30981892, 31477836		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19737972, 21031435, 30981892	Associate	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	24152995		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	20732753		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	31298537		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31298537		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	25024510		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	11828047	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30185517		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	35845940	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	15955662, 26159854		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	15955662, 17786348		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	21517111		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	22215146, 24009050		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26159854, 29802697	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27259998	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	31429766		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	15955662		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29656298, 30886505		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29656298, 30886505, 32382548	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	27924073	Stimulate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30351993		★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	28009281	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	BEFREE	24316730		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37063429	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	30696882		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	29434945		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31470801	Associate	★☆☆☆☆ Found in Text Mining only