EHMT2 (euchromatic histone lysine methyltransferase 2)

Gene

• Entrez ID: 10919
• Gene name: Euchromatic histone lysine methyltransferase 2
• Gene symbol: EHMT2
• Synonyms (NCBI Gene): BAT8, C6orf30, G9A, GAT8, KMT1C, NG36
• Chromosome: 6
• Chromosome location: 6p21.33
• Summary: This gene encodes a methyltransferase that methylates lysine residues of histone H3. Methylation of H3 at lysine 9 by this protein results in recruitment of additional epigenetic regulators and repression of transcription. This gene was initially thought

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001368	hsa-miR-1-3p	pSILAC	18668040
MIRT001368	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT001368	hsa-miR-1-3p	Proteomics	18668040
MIRT051011	hsa-miR-17-5p	CLASH	23622248
MIRT046189	hsa-miR-27b-3p	CLASH	23622248
MIRT040361	hsa-miR-615-3p	CLASH	23622248
MIRT036236	hsa-miR-320b	CLASH	23622248
MIRT955659	hsa-miR-2861	CLIP-seq
MIRT955660	hsa-miR-3064-5p	CLIP-seq
MIRT955661	hsa-miR-326	CLIP-seq
MIRT955662	hsa-miR-330-5p	CLIP-seq
MIRT955663	hsa-miR-3652	CLIP-seq
MIRT955664	hsa-miR-3663-5p	CLIP-seq
MIRT955665	hsa-miR-4430	CLIP-seq
MIRT955666	hsa-miR-4505	CLIP-seq
MIRT955667	hsa-miR-450b-3p	CLIP-seq
MIRT955668	hsa-miR-4713-3p	CLIP-seq
MIRT955669	hsa-miR-638	CLIP-seq
MIRT955670	hsa-miR-769-3p	CLIP-seq
MIRT955671	hsa-miR-873	CLIP-seq
MIRT955672	hsa-miR-1	CLIP-seq
MIRT955673	hsa-miR-1293	CLIP-seq
MIRT955674	hsa-miR-206	CLIP-seq
MIRT955659	hsa-miR-2861	CLIP-seq
MIRT955660	hsa-miR-3064-5p	CLIP-seq
MIRT955675	hsa-miR-3150a-3p	CLIP-seq
MIRT955676	hsa-miR-3175	CLIP-seq
MIRT955661	hsa-miR-326	CLIP-seq
MIRT955662	hsa-miR-330-5p	CLIP-seq
MIRT955663	hsa-miR-3652	CLIP-seq
MIRT955664	hsa-miR-3663-5p	CLIP-seq
MIRT955677	hsa-miR-3918	CLIP-seq
MIRT955665	hsa-miR-4430	CLIP-seq
MIRT955678	hsa-miR-4483	CLIP-seq
MIRT955666	hsa-miR-4505	CLIP-seq
MIRT955667	hsa-miR-450b-3p	CLIP-seq
MIRT955679	hsa-miR-4512	CLIP-seq
MIRT955680	hsa-miR-4685-5p	CLIP-seq
MIRT955668	hsa-miR-4713-3p	CLIP-seq
MIRT955681	hsa-miR-488	CLIP-seq
MIRT955682	hsa-miR-491-5p	CLIP-seq
MIRT955683	hsa-miR-541	CLIP-seq
MIRT955684	hsa-miR-613	CLIP-seq
MIRT955669	hsa-miR-638	CLIP-seq
MIRT955685	hsa-miR-654-5p	CLIP-seq
MIRT955670	hsa-miR-769-3p	CLIP-seq
MIRT955671	hsa-miR-873	CLIP-seq
MIRT955686	hsa-miR-939	CLIP-seq
MIRT1983089	hsa-miR-185	CLIP-seq
MIRT955675	hsa-miR-3150a-3p	CLIP-seq
MIRT955676	hsa-miR-3175	CLIP-seq
MIRT1983090	hsa-miR-4306	CLIP-seq
MIRT1983091	hsa-miR-4644	CLIP-seq
MIRT1983092	hsa-miR-4667-5p	CLIP-seq
MIRT1983093	hsa-miR-4700-5p	CLIP-seq
MIRT1983094	hsa-miR-4731-5p	CLIP-seq
MIRT955686	hsa-miR-939	CLIP-seq
MIRT2218268	hsa-miR-1185	CLIP-seq
MIRT2218269	hsa-miR-2392	CLIP-seq
MIRT2218270	hsa-miR-3605-5p	CLIP-seq
MIRT2218271	hsa-miR-3679-5p	CLIP-seq
MIRT955661	hsa-miR-326	CLIP-seq
MIRT955662	hsa-miR-330-5p	CLIP-seq
MIRT955661	hsa-miR-326	CLIP-seq
MIRT955662	hsa-miR-330-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	19144645
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	19144645
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0001222	Function	Transcription corepressor binding	IEA
GO:0001222	Function	Transcription corepressor binding	IPI	29628311
GO:0002039	Function	P53 binding	IEA
GO:0002039	Function	P53 binding	IPI	20118233
GO:0005515	Function	Protein binding	IPI	16189514, 16287849, 16702210, 17636019, 18451879, 18953337, 19061646, 21549307, 23752268, 24492005, 25910212, 26028330, 26751641, 26871637, 27339988, 27705803, 29774127, 32296183, 33961781, 35140242
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19144645
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006275	Process	Regulation of DNA replication	IEA
GO:0006275	Process	Regulation of DNA replication	IMP	22387026
GO:0006325	Process	Chromatin organization	IEA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	IEA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007130	Process	Synaptonemal complex assembly	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009267	Process	Cellular response to starvation	IDA	23918802
GO:0009566	Process	Fertilization	IEA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IDA	19144645, 20118233
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IEA
GO:0016604	Component	Nuclear body	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0018027	Process	Peptidyl-lysine dimethylation	IDA	20118233
GO:0032259	Process	Methylation	IEA
GO:0035265	Process	Organ growth	IEA
GO:0036166	Process	Phenotypic switching	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IBA
GO:0042054	Function	Histone methyltransferase activity	IEA
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046974	Function	Histone H3K9 methyltransferase activity	IBA
GO:0046974	Function	Histone H3K9 methyltransferase activity	IEA
GO:0046974	Function	Histone H3K9 methyltransferase activity	ISS
GO:0046976	Function	Histone H3K27 methyltransferase activity	IEA
GO:0046976	Function	Histone H3K27 methyltransferase activity	ISS
GO:0048148	Process	Behavioral response to cocaine	IEA
GO:0048599	Process	Oocyte development	IEA
GO:0048665	Process	Neuron fate specification	IEA
GO:0070742	Function	C2H2 zinc finger domain binding	IEA
GO:0070742	Function	C2H2 zinc finger domain binding	IPI	16702210
GO:0071314	Process	Cellular response to cocaine	IEA
GO:0140759	Function	Histone H3K56 methyltransferase activity	IEA
GO:0140759	Function	Histone H3K56 methyltransferase activity	IMP	22387026
GO:0140938	Function	Histone H3 methyltransferase activity	IEA
GO:0140947	Function	Histone H3K9me2 methyltransferase activity	IEA
GO:1902902	Process	Negative regulation of autophagosome assembly	IEA
GO:1990841	Function	Promoter-specific chromatin binding	IDA	23918802
GO:1990841	Function	Promoter-specific chromatin binding	IEA

Other IDs

• MIM: 604599
• HGNC: 14129
• e!Ensembl: ENSG00000204371

Protein

• UniProt ID: Q96KQ7
• Protein name: Histone-lysine N-methyltransferase EHMT2 (EC 2.1.1.-) (EC 2.1.1.367) (Euchromatic histone-lysine N-methyltransferase 2) (HLA-B-associated transcript 8) (Histone H3-K9 methyltransferase 3) (H3-K9-HMTase 3) (Lysine N-methyltransferase 1C) (Protein G9a)
• Protein function: Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to
• PDB: 2O8J, 3DM1, 3K5K, 3RJW, 4NVQ, 5JHN, 5JIN, 5JIY, 5JJ0, 5T0K, 5T0M, 5TTF, 5TUY, 5V9I, 5VSC, 5VSE, 6MM1, 7BTV, 7BUC, 7DCF, 7T7L, 7X73, 7XUA, 7XUB, 7XUC, 7XUD, 8VV8, 8Z7C, 8Z7D, 8Z7E
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00023	Ank	685 → 716	Ankyrin repeat	Repeat
  PF00023	Ank	750 → 783	Ankyrin repeat	Repeat
  PF00023	Ank	784 → 816	Ankyrin repeat	Repeat
  PF00023	Ank	850 → 882	Ankyrin repeat	Repeat
  PF05033	Pre-SET	926 → 1030	Pre-SET motif	Family
  PF00856	SET	1049 → 1155	SET domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all tissues examined, with high levels in fetal liver, thymus, lymph node, spleen and peripheral blood leukocytes and lower level in bone marrow. {ECO:0000269|PubMed:11707778}.
• Sequence:

  MAAAAGAAAAAAAEGEAPAEMGALLLEKETRGATERVHGSLGDTPRSEETLPKATPDSLE
  PAGPSSPASVTVTVGDEGADTPVGATPLIGDESENLEGDGDLRGGRILLGHATKSFPSSP
  SKGGSCPSRAKMSMTGAGKSPPSVQSLAMRLLSMPGAQGAAAAGSEPPPATTSPEGQPKV
  HRARKTMSKPGNGQPPVPEKRPPEIQHFRMSDDVHSLGKVTSDLAKRRKLNSGGGLSEEL
  GSARRSGEVTLTKGDPGSLEEWETVVGDDFSLYYDSYSVDERVDSDSKSEVEALTEQLSE
  EEEEEEEEEEEEEEEEEEEEEEEDEESGNQSDRSGSSGRRKAKKKWRKDSPWVKPSRKRR
  KREPPRAKEPRGVNGVGSSGPSEYMEVPLGSLELPSEGTLSPNHAGVSNDTSSLETERGF
  EELPLCSCRMEAPKIDRISERAGHKCMATESVDGELSGCNAAILKRETMRPSSRVALMVL
  CETHRARMVKHHCCPGCGYFCTAGTFLECHPDFRVAHRFHKACVSQLNGMVFCPHCGEDA
  SEAQEVTIPRGDGVTPPAGTAAPAPPPLSQDVPGRADTSQPSARMRGHGEPRRPPCDPLA
  DTIDSSGPSLTLPNGGCLSAVGLPLGPGREALEKALVIQESERRKKLRFHPRQLYLSVKQ
  GELQKVILMLLDNLDPNFQSDQQSKRTPLHAAAQKGSVEICHVLLQAGANINAVDKQQRT
  PLMEAVVNNHLEVARYMVQRGGCVYSKEEDGSTCLHHAAKIGNLEMVSLLLSTGQVDVNA
  QDSGGWTPIIWAAEHKHIEVIRMLLTRGADVTLTDNEENICLHWASFTGSAAIAEVLLNA
  RCDLHAVNYHGDTPLHIAARESYHDCVLLFLSRGANPELRNKEGDTAWDLTPERSDVWFA
  LQLNRKLRLGVGNRAIRTEKIICRDVARGYENVPIPCVNGVDGEPCPEDYKYISENCETS
  TMNIDRNITHLQHCTCVDDCSSSNCLCGQLSIRCWYDKDGRLLQEFNKIEPPLIFECNQA
  CSCWRNCKNRVVQSGIKVRLQLYRTAKMGWGVRALQTIPQGTFICEYVGELISDAEADVR
  EDDSYLFDLDNKDGEVYCIDARYYGNISRFINHLCDPNIIPVRVFMLHQDLRFPRIAFFS
  SRDIRTGEELGFDYGDRFWDIKSKYFTCQCGSEKCKHSAEAIALEQSRLARLDPHPELLP
  ELGSLPPVNT

• Sequence length: 1210

Pathways

KEGG:

Lysine degradation
Metabolic pathways
Longevity regulating pathway

Reactome:

Senescence-Associated Secretory Phenotype (SASP)
PKMTs methylate histone lysines
Regulation of TP53 Activity through Methylation
RNA Polymerase I Transcription Initiation
Transcriptional Regulation by VENTX
Transcriptional Regulation by E2F6

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
Kleefstra-like syndrome	Pathogenic	rs2481623573	RCV003484975	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, OVARIAN EPITHELIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMBRANOUS GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICULAR STOMATITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	23142581		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	24532712		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	24532712		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	15590664		★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	32174799	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit and Disruptive Behavior Disorders	Attention deficit hyperactivity disorder	Pubtator	18446223	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	30747104	Inhibit	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	30747104	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31270502		★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	27185940	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29337058, 30365075		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26960573, 29145444, 30365075, 35054776, 37614064	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28819251	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21847359, 32269030	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35054776	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	21847359		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26765460, 32684241, 34692847, 36896891	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	31270502		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	CTD_human_DG	25115793		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	32174799	Associate	★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34880125	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34880125	Inhibit	★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	37858336	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29554304		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30535125		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19843671, 29805595		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30535125, 32512705, 33323965, 34972816	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	24465836, 29238036		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	30015926	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29358691	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29358691		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	29358691		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29115470		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	39465737	Associate	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	30668640		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29860315	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27748874, 28445939	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	38285887	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	37614064	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31467597		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	27157822	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29145444	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29860315	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	24652950, 29053336	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	BEFREE	29554304		★☆☆☆☆ Found in Text Mining only
Kleefstra syndrome	Kleefstra Syndrome	BEFREE	29554304		★☆☆☆☆ Found in Text Mining only
KLEEFSTRA SYNDROME 1	Kleefstra Syndrome	BEFREE	29554304		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	22801367, 25765655, 32293500	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27879268		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23142581, 25978433, 28301528, 32293500	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	11682484, 19376791	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	24532712		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28532996, 31012192, 31262881, 31497345		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	36896891	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	20940408		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	28615290, 28787001, 31271097, 35477569	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	24871463		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25749385	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31770281	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	33530253	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29337058, 30365075		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28532996		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	20940408		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30323973		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31599405		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29449539		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31270502		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21847359, 26147105, 27174920		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30535125		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24850177, 32269030, 32512705	Associate	★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	GWASCAT_DG	21323541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	18446223	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	17660530, 20598377		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	25593028, 28532996, 29374157, 31497345, 31599405		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23466651		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	23466651, 34016720	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	32028644, 37894922	Stimulate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28383547, 29374157		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	27685841	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30185548	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32028644	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30323973		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22536950, 23807219, 26688070	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33973677	Associate	★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	28024084, 30904443		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31599405		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31599405, 37663929	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	36044855	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	36044855	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088, 21156761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	37894922	Stimulate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	28540026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25749385	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27081761, 29449539		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30158521, 31770281	Associate	★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	CTD_human_DG	25975992		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	GWASCAT_DG	25604533		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21847359	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31434093	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	25593028	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	32174799	Associate	★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	CTD_human_DG	26418342		★★☆☆☆ Found in Text Mining + Unknown/Other Associations