H2AX (H2A.X variant histone)

Gene

• Entrez ID: 3014
• Gene name: H2A.X variant histone
• Gene symbol: H2AX
• Synonyms (NCBI Gene): H2A.X, H2A/X, H2AFX
• Chromosome: 11
• Chromosome location: 11q23.3
• Summary: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000077	Process	DNA damage checkpoint signaling	IDA	17974976
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	30952868
GO:0000724	Process	Double-strand break repair via homologous recombination	IEA
GO:0000781	Component	Chromosome, telomeric region	IDA	15149599
GO:0000785	Component	Chromatin	IEA
GO:0000786	Component	Nucleosome	IBA
GO:0000786	Component	Nucleosome	IEA
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0001741	Component	XY body	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	2587254
GO:0003684	Function	Damaged DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12419185, 12607005, 16377563, 16820410, 17024177, 17498979, 18001824, 18001825, 18583988, 19234442, 19338747, 20000738, 20075863, 20118229, 20159462, 20224553, 20360685, 21044950, 21293379, 21317870, 21824286, 22064073, 22157895, 22193777, 22565321, 23658700, 24981860, 25923214, 267
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11331621, 15604234, 16319397, 17974976, 19734146, 23235539
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	24507776
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005657	Component	Replication fork	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005813	Component	Centrosome	IDA	17498979
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	NAS	19234442
GO:0006310	Process	DNA recombination	IEA
GO:0006334	Process	Nucleosome assembly	NAS	2587254
GO:0006974	Process	DNA damage response	IBA
GO:0006974	Process	DNA damage response	IDA	15149599
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	27248496
GO:0007283	Process	Spermatogenesis	IEA
GO:0010212	Process	Response to ionizing radiation	NAS	19234442
GO:0016607	Component	Nuclear speck	IDA
GO:0019899	Function	Enzyme binding	IPI	19234442
GO:0030527	Function	Structural constituent of chromatin	IBA
GO:0030527	Function	Structural constituent of chromatin	IEA
GO:0031507	Process	Heterochromatin formation	IBA
GO:0035861	Component	Site of double-strand break	IDA	12419185
GO:0035861	Component	Site of double-strand break	IDA	21270334
GO:0035861	Component	Site of double-strand break	IEA
GO:0042393	Function	Histone binding	IPI	19234442
GO:0045739	Process	Positive regulation of DNA repair	NAS	19234442
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070534	Process	Protein K63-linked ubiquitination	IDA	30952868
GO:0090734	Component	Site of DNA damage	IMP	27248496
GO:0140463	Function	Chromatin-protein adaptor activity	IDA	12419185, 30952868
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IDA	30952868
GO:1990166	Process	Protein localization to site of double-strand break	IDA	24534091
GO:1990166	Process	Protein localization to site of double-strand break	IDA	12419185, 30952868

Other IDs

• MIM: 601772
• HGNC: 4739
• e!Ensembl: ENSG00000188486

Protein

• UniProt ID: P16104
• Protein name: Histone H2AX (H2a/x) (Histone H2A.X)
• Protein function: Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a cent
• PDB: 1YDP, 2AZM, 2D31, 2DYP, 3SHV, 3SQD, 3SZM, 3U3Z, 6K1I, 6K1J, 6K1K, 6ZWK, 7YQK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00125	Histone	2 → 91	Core histone H2A/H2B/H3/H4	Domain
  PF16211	Histone_H2A_C	92 → 126	C-terminus of histone H2A	Family

• Sequence:

  MSGRGKTGGKARAKAKSRSSRAGLQFPVGRVHRLLRKGHYAERVGAGAPVYLAAVLEYLT
  AEILELAGNAARDNKKTRIIPRHLQLAIRNDEELNKLLGGVTIAQGGVLPNIQAVLLPKK
  TSATVGPKAPSGGKKATQASQEY

• Sequence length: 143

Pathways

KEGG:

ATP-dependent chromatin remodeling
Necroptosis
Neutrophil extracellular trap formation
Alcoholism
Systemic lupus erythematosus

Reactome:

Recognition and association of DNA glycosylase with site containing an affected purine
Cleavage of the damaged purine
Packaging Of Telomere Ends
Formation of the beta-catenin:TCF transactivating complex
PRC2 methylates histones and DNA
Condensation of Prophase Chromosomes
Oxidative Stress Induced Senescence
Senescence-Associated Secretory Phenotype (SASP)
DNA Damage/Telomere Stress Induced Senescence
RMTs methylate histone arginines
SIRT1 negatively regulates rRNA expression
NoRC negatively regulates rRNA expression
B-WICH complex positively regulates rRNA expression
Transcriptional regulation by small RNAs
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Nonhomologous End-Joining (NHEJ)
Processing of DNA double-strand break ends
Deposition of new CENPA-containing nucleosomes at the centromere
G2/M DNA damage checkpoint
RNA Polymerase I Promoter Opening
RNA Polymerase I Promoter Escape
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
Estrogen-dependent gene expression
Amyloid fiber formation

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
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Actinic keratosis	Actinic keratosis	BEFREE	19298285, 29298652		★☆☆☆☆ Found in Text Mining only
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	16828319		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	25220590		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	19398952		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	29764708		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	23904462		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of rectum	Adenocarcinoma Of Rectum	BEFREE	26541290		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	18454178		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	32175564	Associate	★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	21631283		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	29321089, 31669383		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	26791933		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	21281739		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	25467559		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	14712078, 15474997, 16494515, 17126209, 18344416, 18429963, 18431795, 19167771, 21199394, 22061042, 24804719, 25862863, 28477120, 31401636		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	LHGDN	17594478		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	18431795, 22713662	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	LHGDN	12915485		★☆☆☆☆ Found in Text Mining only
ATAXIA-TELANGIECTASIA-LIKE DISORDER	Ataxia-Telangiectasia-Like Disorder	BEFREE	14712078		★☆☆☆☆ Found in Text Mining only
Ataxia-Telangiectasisa-Like Disorder 1	Ataxia-telangiectasia-like disorder	BEFREE	14712078		★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	28340172		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	36980990	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	17548670, 28340172		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	19920191	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	24852569		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	27226232		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19293182		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	19432895		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	14712078, 17634426		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	LHGDN	17634426		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	15172403	Associate	★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	21399880		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16293233, 17851762, 21451261, 21586614, 21631283, 21840613, 23617930, 24036252, 25733871, 25808442, 25862863, 26713604, 27315462, 27342554, 28340615, 29522917, 29678143, 30529626, 30920061, 31552812		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	18925433, 21463514		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17851762, 18632822, 21463514, 23840685, 24036252, 27315462, 29678143, 32236595, 35260660	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	24429368, 28714367, 36278823	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19151662, 28877067, 30126387		★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	20372780	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20000738, 28714367, 33750838, 35903980, 37870748, 38097352	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24136149	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19293182		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23300022, 23793869, 24164298, 26653982, 27780918, 28477120, 30398394, 30614802, 31750234		★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	28808232		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26191270	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	38423594	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31855962	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	20849603	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30394813		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	23991739	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	20830300		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	29321089, 31669383		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	40527032	Associate	★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	27551000		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28383667		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27315462, 31445935		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23154512, 25862913, 28291710, 28383667, 29052312, 29462394, 31430901		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21087350	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	16618761, 17304220, 17471025, 17875716, 21785230, 23319047, 26337656, 26455407, 27788031, 27849610, 28431926, 28626752, 29484821, 30070703		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30404073		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26474283		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	28337255		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	23316069		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	25771879		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	33335142	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	28543539	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	20660387		★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	BEFREE	20581868		★☆☆☆☆ Found in Text Mining only
Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma	BEFREE	30852603		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	21631283, 25544753		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	21185067, 28351323		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	30622513		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	22906540, 27108688		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	22906540, 27108688		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	19584237		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	17304220, 17471025, 24512567, 31639439		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	17304220, 17471025, 24512567, 31639439		★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	28786938		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	21983636		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	21983636, 22331172		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	24899704		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	17363589, 20028860		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	20028860, 31948066	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	26651356		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12851679, 19305157, 21752281, 25939762, 27185241, 30333481, 31818017		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	CTD_human_DG	26651356		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	31533041	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	19305157, 20581868, 21752281, 22086447, 25939762, 27185241, 30333481, 31818017		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	26651356		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	12851679, 21512825, 30395843		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	16909103		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	17704360, 26972001, 32012853	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30404073		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	18985806	Stimulate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	LHGDN	12915485		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	25489053, 26982737, 30549309		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	26982737	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	12519769, 35163354	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	24270264		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	21353553		★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	25130537, 28543539		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	23449797, 24352470		★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	BEFREE	19298285		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	30323866		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19411853, 33691101	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22516893, 29748210		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	22985621	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	19398952		★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	17126209, 19834951		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24136149, 24885363, 25537504, 25872745, 28714367, 28714949, 30323964		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	30323964		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19658174, 20849603, 27780918, 38273748	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	24164298		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	27226232, 32576231	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21905016		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27813335	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	12914700, 16166587, 17548670, 18622584, 19718051		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	17548670, 21631283, 24069324		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	LHGDN	17548670		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	17548670, 24069324		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	26678661		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16293233, 17851762, 21451261, 21586614, 21631283, 21840613, 23617930, 24036252, 25733871, 25808442, 25862863, 26713604, 26920250, 27315462, 27342554, 28340615, 29522917, 29678143, 30529626, 30920061, 31552812		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	18925433, 21463514		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	21185067, 28351323		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	22906540, 27108688		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23300022, 23793869, 24164298, 27780918, 30398394, 30614802, 31750234		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28351323, 30394813		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30395843		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24435511, 26632856, 28108515		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	23264066, 31146257		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19293182		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14712078, 17363589, 17522062, 17851762, 18206537, 18727058, 20153123, 21185067, 22198208, 23617930, 24352470, 25487737, 25699650, 25742469, 26088617, 26687759, 27325258, 27503200, 27918549, 28158293, 28351323, 28829673, 28977657, 29243303, 29495465, 30159125, 30362831, 30394813, 30920061, 31425731		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27315462, 31445935		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	31331821		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	18925433, 21463514		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18206537		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	18925433, 21463514		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	18925433, 21463514		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	29321089, 31669383		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	15816840		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15816840, 24416382, 24506253, 24795358, 24850177	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24850177		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	34799992	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	21566653		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	21566653, 32060401	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23028690, 26820970		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	19398952, 26791933		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	19432895, 24830786, 25619392		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	29357787, 30666155		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12914700, 15466212, 17363589, 18948225, 19377486, 19432895, 20843819, 21185067, 21586614, 21705453, 21840613, 22515193, 22926521, 23403624, 23469273, 24069324, 25537504, 25544753, 27077811, 27325258, 27813335, 28587165, 28797171, 29416613, 29746214, 29859114, 29955143, 30031728, 30342090, 30776229, 30920061, 31075786, 31092422, 31736361		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	25824335		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	35217496	Associate	★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	14712078		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28273155		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17145876, 19597473, 20878124		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	21068397, 28714549		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	37352694, 39256343	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	31288072		★☆☆☆☆ Found in Text Mining only
Oral Mucositis	Oral Mucositis	BEFREE	22836053		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	17015833	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21693595, 29207178		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30394813		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30395843		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26674149	Associate	★☆☆☆☆ Found in Text Mining only
Pilomatrixoma	Pilomatrixoma	BEFREE	21048491		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	25288776		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	27907109, 30565836, 31156709		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24435511, 26632856, 28108515		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26884865	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	38110986	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	23300022, 30696938		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	26541290		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26474283		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	17339135, 20041760, 29914080		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	30701326		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	27248664		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21830993		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	21830993		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seborrheic keratosis	Seborrheic keratosis	BEFREE	19298285		★☆☆☆☆ Found in Text Mining only
Seckel syndrome	Seckel Syndrome	BEFREE	21131973		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	18628474		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	19597473, 25699650		★☆☆☆☆ Found in Text Mining only
Spina Bifida Cystica	Spina Bifida Cystica	BEFREE	30531021		★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	17851762, 18206537, 21463514		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19298285, 28185188, 28387728, 31318980		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28356983		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32064753, 35170694, 39756240	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	21705453		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25972194	Associate	★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	BEFREE	22836053		★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	16539655, 21394098	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	25288776		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	23264066, 31146257		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	21983636		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	23264066, 31146257		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	21840613, 25808442, 26544894, 28166748, 30185813		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26544894, 30478172	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis 1	Tuberous sclerosis complex	Pubtator	35806041	Stimulate	★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	26509888		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	18519043, 28383667, 29462394		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	23946494, 24577895, 27439749	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29995652, 31118484	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	31736361	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	LHGDN	15733840		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	18005250		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	28098859, 31045206		★☆☆☆☆ Found in Text Mining only