MECOM (MDS1 and EVI1 complex locus)

Gene

• Entrez ID: 2122
• Gene name: MDS1 and EVI1 complex locus
• Gene symbol: MECOM
• Synonyms (NCBI Gene): AML1-EVI-1, EVI1, KMT8E, MDS1, MDS1-EVI1, PRDM3, RUSAT2
• Chromosome: 3
• Chromosome location: 3q26.2
• Summary: The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, M

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs864309722	T>C	Pathogenic	Missense variant, coding sequence variant
rs864309723	T>C	Pathogenic	Missense variant, coding sequence variant
rs1560118923	G>A	Pathogenic	Stop gained, coding sequence variant
rs1577005203	G>A	Likely-pathogenic	Intron variant, stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1139852	hsa-miR-129-5p	CLIP-seq
MIRT1139853	hsa-miR-3143	CLIP-seq
MIRT1139854	hsa-miR-338-5p	CLIP-seq
MIRT1139855	hsa-miR-4420	CLIP-seq
MIRT1139856	hsa-miR-4666-3p	CLIP-seq
MIRT1139857	hsa-miR-5096	CLIP-seq
MIRT1139858	hsa-miR-214	CLIP-seq
MIRT1139859	hsa-miR-3121-3p	CLIP-seq
MIRT1139860	hsa-miR-3180-5p	CLIP-seq
MIRT1139861	hsa-miR-337-3p	CLIP-seq
MIRT1139862	hsa-miR-3619-5p	CLIP-seq
MIRT1139863	hsa-miR-4268	CLIP-seq
MIRT1139864	hsa-miR-4274	CLIP-seq
MIRT1139865	hsa-miR-4291	CLIP-seq
MIRT1139866	hsa-miR-4448	CLIP-seq
MIRT1139867	hsa-miR-4540	CLIP-seq
MIRT1139868	hsa-miR-520a-5p	CLIP-seq
MIRT1139869	hsa-miR-525-5p	CLIP-seq
MIRT1139870	hsa-miR-643	CLIP-seq
MIRT1139871	hsa-miR-761	CLIP-seq
MIRT1139872	hsa-miR-767-3p	CLIP-seq
MIRT1139873	hsa-miR-922	CLIP-seq
MIRT1139874	hsa-miR-1	CLIP-seq
MIRT1139875	hsa-miR-1271	CLIP-seq
MIRT1139876	hsa-miR-182	CLIP-seq
MIRT1139877	hsa-miR-206	CLIP-seq
MIRT1139878	hsa-miR-3591-3p	CLIP-seq
MIRT1139879	hsa-miR-3653	CLIP-seq
MIRT1139880	hsa-miR-3658	CLIP-seq
MIRT1139881	hsa-miR-4639-3p	CLIP-seq
MIRT1139882	hsa-miR-4672	CLIP-seq
MIRT1139883	hsa-miR-485-3p	CLIP-seq
MIRT1139884	hsa-miR-613	CLIP-seq
MIRT1139885	hsa-miR-96	CLIP-seq
MIRT2039525	hsa-miR-606	CLIP-seq
MIRT2568786	hsa-miR-3065-5p	CLIP-seq
MIRT2568787	hsa-miR-4776-3p	CLIP-seq
MIRT2568788	hsa-miR-495	CLIP-seq
MIRT1139858	hsa-miR-214	CLIP-seq
MIRT1139862	hsa-miR-3619-5p	CLIP-seq
MIRT1139871	hsa-miR-761	CLIP-seq
MIRT1139873	hsa-miR-922	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ELK1	Activation	22689058
RUNX1	Activation	22689058
SMARCA4	Activation	14555651

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000118	Component	Histone deacetylase complex	IDA	11568182
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IDA	19767769
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	10856240, 11328817, 11568182, 15897867, 17635584, 21555002, 22308434, 25814554, 30462309, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	15897867
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006915	Process	Apoptotic process	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016607	Component	Nuclear speck	IDA	11568182
GO:0016607	Component	Nuclear speck	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IDA	15897867
GO:0032259	Process	Methylation	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	15897867
GO:0042803	Function	Protein homodimerization activity	IDA	15897867
GO:0043069	Process	Negative regulation of programmed cell death	IMP	10856240
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	10856240, 11568182
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	11568182, 19767769
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046329	Process	Negative regulation of JNK cascade	IMP	10856240
GO:0046872	Function	Metal ion binding	IEA
GO:0046974	Function	Histone H3K9 methyltransferase activity	IEA
GO:0046974	Function	Histone H3K9 methyltransferase activity	ISS
GO:0051726	Process	Regulation of cell cycle	IDA	11568182
GO:0070828	Process	Heterochromatin organization	ISS
GO:0071425	Process	Hematopoietic stem cell proliferation	ISS
GO:0140938	Function	Histone H3 methyltransferase activity	IEA
GO:0140938	Function	Histone H3 methyltransferase activity	TAS
GO:0140947	Function	Histone H3K9me2 methyltransferase activity	IEA
GO:0140948	Function	Histone H3K9 monomethyltransferase activity	IEA

Other IDs

• MIM: 165215
• HGNC: 3498
• e!Ensembl: ENSG00000085276

Protein

• UniProt ID: Q03112
• Protein name: Histone-lysine N-methyltransferase MECOM (EC 2.1.1.367) (Ecotropic virus integration site 1 protein homolog) (EVI-1) (MDS1 and EVI1 complex locus protein) (Myelodysplasia syndrome 1 protein) (Myelodysplasia syndrome-associated protein 1)
• Protein function: [Isoform 1]: Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression. Oncogene which plays a role in development, cell proliferation and di
• PDB: 6BW3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	263 → 285	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	291 → 313	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	319 → 342	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	348 → 370	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	376 → 398	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	405 → 426	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	912 → 934	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	940 → 963	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	969 → 991	Zinc finger, C2H2 type	Domain

• Sequence:

  MRSKGRARKLATNNECVYGNYPEIPLEEMPDADGVASTPSLNIQEPCSPATSSEAFTPKE
  GSPYKAPIYIPDDIPIPAEFELRESNMPGAGLGIWTKRKIEVGEKFGPYVGEQRSNLKDP
  SYGWEILDEFYNVKFCIDASQPDVGSWLKYIRFAGCYDQHNLVACQINDQIFYRVVADIA
  PGEELLLFMKSEDYPHETMAPDIHEERQYRCEDCDQLFESKAELADHQKFPCSTPHSAFS
  MVEEDFQQKLESENDLQEIHTIQECKECDQVFPDLQSLEKHMLSHTEEREYKCDQCPKAF
  NWKSNLIRHQMSHDSGKHYECENCAKVFTDPSNLQRHIRSQHVGARAHACPECGKTFATS
  SGLKQHKHIHSSVKPFICEVCHKSYTQFSNLCRHKRMHADCRTQIKCKDCGQMFSTTSSL
  NKHRRFCEGKNHFAAGGFFGQGISLPGTPAMDKTSMVNMSHANPGLADYFGANRHPAGLT
  FPTAPGFSFSFPGLFPSGLYHRPPLIPASSPVKGLSSTEQTNKSQSPLMTHPQILPATQD
  ILKALSKHPSVGDNKPVELQPERSSEERPFEKISDQSESSDLDDVSTPSGSDLETTSGSD
  LESDIESDKEKFKENGKMFKDKVSPLQNLASINNKKEYSNHSIFSPSLEEQTAVSGAVND
  SIKAIASIAEKYFGSTGLVGLQDKKVGALPYPSMFPLPFFPAFSQSMYPFPDRDLRSLPL
  KMEPQSPGEVKKLQKGSSESPFDLTTKRKDEKPLTPVPSKPPVTPATSQDQPLDLSMGSR
  SRASGTKLTEPRKNHVFGGKKGSNVESRPASDGSLQHARPTPFFMDPIYRVEKRKLTDPL
  EALKEKYLRPSPGFLFHPQMSAIENMAEKLESFSALKPEASELLQSVPSMFNFRAPPNAL
  PENLLRKGKERYTCRYCGKIFPRSANLTRHLRTHTGEQPYRCKYCDRSFSISSNLQRHVR
  NIHNKEKPFKCHLCDRCFGQQTNLDRHLKKHENGNMSGTATSSPHSELESTGAILDDKED
  AYFTEIRNFIGNSNHGSQSPRNVEERMNGSHFKDEKALVTSQNSDLLDDEEVEDEVLLDE
  EDEDNDITGKTGKEPVTSNLHEGNPEDDYEETSALEMSCKTSPVRYKEEEYKSGLSALDH
  IRHFTDSLKMRKMEDNQYSEAELSSFSTSHVPEELKQPLHRKSKSQAYAMMLSLSDKESL
  HSTSHSSSNVWHSMARAAAESSAIQSISHV

• Sequence length: 1230

Pathways

KEGG:

Lysine degradation
Metabolic pathways
MAPK signaling pathway
Pathways in cancer
Chronic myeloid leukemia

Reactome:

PKMTs methylate histone lysines
Regulation of PTEN gene transcription

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
Hereditary cancer-predisposing syndrome	Pathogenic	rs2549200429	RCV003445474	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MECOM-associated syndrome	Likely pathogenic; Pathogenic	rs864309724, rs2549268925	RCV005623074 RCV006249866	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MECOM-related disorder	Likely pathogenic; Pathogenic	rs864309724	RCV004745276	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure	Likely pathogenic	rs767306816	RCV001270195	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Radioulnar synostosis	Pathogenic; Likely pathogenic	rs2148891037, rs2148891074, rs2148891008, rs2148890956	RCV002266020 RCV002266021 RCV002266023 RCV002266024 RCV002266025	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	Pathogenic; Likely pathogenic	rs2148947240, rs1475580175, rs1240852654, rs864309722, rs864309723, rs864309724, rs2549269204	RCV001548769 RCV002222125 RCV002280933 RCV000203299 RCV000203303 RCV000203298 RCV003226029	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombocytopenia	Likely pathogenic	rs1577005203	RCV001003802	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal bleeding	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adenoid cystic carcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUODENAL ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GASTRIC ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPITUITARISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PREGNANCY-INDUCED	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant peritoneal mesothelioma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCYTOPENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, FAMILIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLENOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
5q-syndrome	5q-syndrome	BEFREE	23054648		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	12555218, 18192504, 24622513, 30278283, 8049440, 8932329		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	23054648, 7780155		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	19016745, 30278283		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	12393383, 12816872, 18181178, 18272813, 20357826, 22072540, 22488406, 22553314, 23008312, 28538183, 30214063, 31711889, 8412328, 9266939		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	30472098		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)	Myeloid Leukemia With Inv(3)(Q21q26.2) Or T(3;3)(Q21;Q26.2)	Orphanet			★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia, 11q23 abnormalities	Myeloid Leukemia, 11q23 Abnormalities	BEFREE	31649131		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	30472098		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	11167805, 12200691, 19027486, 23770046, 8049440, 9009083		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	20357826, 23251566, 23826213, 26729571		★☆☆☆☆ Found in Text Mining only
Amegakaryocytic thrombocytopenia	Amegakaryocytic thrombocytopenia	BEFREE	29540340		★☆☆☆☆ Found in Text Mining only
Amegakaryocytic thrombocytopenia	Amegakaryocytic thrombocytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	19208846		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	23776681	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Refractory	Refractory anemia	Pubtator	8049440	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29434723		★☆☆☆☆ Found in Text Mining only
Aural Atresia Congenital	Congenital aural atresia	Pubtator	36171401	Associate	★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	20462630		★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	18613965	Associate	★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	11835339, 15322764, 18613965, 20855863, 7780155, 7808006, 8171026, 8412328, 8611478, 9183665, 9432037		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	23770046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	24935473, 28209621, 30592274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	24935473, 27991928, 30592274, 36195836	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cancer of Nasopharynx	Nasopharyngeal Cancer	CTD_human_DG	20512145		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23770046, 23858473	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	25486480	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25959919, 29209123	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	23517670	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17409414, 20462630, 23517670, 8932329		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	17243162, 20357826, 25567132		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	30349952		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	36171401	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	25936528		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	29047144, 9044825		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28114305		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21276449, 22161860, 23665236		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	23770046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22161860, 27620344, 28749961		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21276449, 27620344, 28749961, 29339729, 31488414, 36609474, 37845228	Associate	★☆☆☆☆ Found in Text Mining only
Congenital amegakaryocytic thrombocytopenia	Congenital Amegakaryocytic Thrombocytopenia	BEFREE	29540340		★☆☆☆☆ Found in Text Mining only
Congenital amegakaryocytic thrombocytopenia	Congenital amegakaryocytic thrombocytopenia	Pubtator	29540340, 36082647, 38245683	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Bone Marrow Failure Syndromes	Congenital bone marrow failure syndrome	Pubtator	38245683	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	10484986, 11167805, 15085164, 20308656, 29288910, 31109591, 8412328, 8611478		★☆☆☆☆ Found in Text Mining only
Congenital thrombocytopenia	Congenital thrombocytopenia	BEFREE	22972950, 26554871		★☆☆☆☆ Found in Text Mining only
Congenital thrombocytopenia	Congenital thrombocytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	37705244	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes insipidus	Pubtator	12139729	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	2115646, 8932329		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	39468462	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	21493867		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	17409414		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	15761962	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	17243162, 29496554		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	17243162		★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	GATA2 Deficiency	BEFREE	28630119		★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	7780155	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	GWASCAT_DG	30054594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	31617054	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21493867		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31617054	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	35219593, 36984532	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	14551738, 16342172, 17011981, 17145882, 19385966, 22634393, 26674644, 28779353, 8049440, 9031072		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	35162973	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	28779353		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	23770046	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25189868	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	36609474	Associate	★☆☆☆☆ Found in Text Mining only
Inherited bone marrow failure syndrome	Inherited Bone Marrow Failure Syndrome	BEFREE	29540340		★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	35150448	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	30349952		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	9432037, 9447818		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10086725, 10557037, 10867128, 11908737, 11922610, 1434816, 15156182, 1552747, 15933056, 1593910, 16015645, 16109773, 16342172, 17483069, 17507183, 17635584, 18206536, 19016745, 19385966, 20084277, 21289308, 21795762, 22553314, 22689058, 23235717, 23826213, 24021671, 24703711, 24703906, 24735919, 25567132, 26674644, 28391050, 29875417, 29939287, 30608452, 31649131, 7739522, 7780155, 7808006, 8313895, 8643684, 8656673, 8813093, 8921366, 9009083, 9031072, 9067573, 9183665, 9192861, 9432037, 9619838, 9834202		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10856240, 15326310, 23776681, 24703711, 30608452, 31617054, 31649131, 32013033, 32606137, 34584081, 35305370, 8171026, 8613429, 8643684, 8813093	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	11922610, 19010836		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	1570317, 16532439, 18815193, 20084277, 22308434, 23155256, 23858473, 25486480, 25959919, 8049440, 8643684, 9763573	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	12393383, 15138998, 15326310, 1570317, 18272813, 19398719, 19605700, 20556821, 20855863, 20855866, 21750091, 22133779, 22910040, 22950073, 24703711, 25331116, 27617961, 27784745, 28191887, 28338652, 28830460, 29408852, 29415082, 29666008, 31649131, 32219447, 32606137, 33980539, 34584081, 34854277, 36861732, 39643863, 7780155, 7919381, 8049440, 8118036, 8613429, 8813093, 9266939	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	9432037	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	11167805, 8049440	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Monocytic, Chronic	Monocytic Leukemia	CTD_human_DG	23770046		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10677531, 11050005, 11167805, 11721451, 12139729, 12393383, 12816872, 14585371, 14607750, 15138998, 15326310, 1552747, 1570317, 16843110, 17243162, 17409414, 17525718, 17693189, 17693194, 18181178, 18192504, 18272813, 19665075, 19965692, 20308656, 20357826, 20556821, 20842122, 21289308, 21596848, 21750091, 22050763, 22072540, 22488406, 22553314, 22682625, 22689058, 22847614, 22887804, 23008312, 23826213, 24495476, 24622513, 25331116, 26467814, 26496831, 26729571, 27140599, 27617961, 28191887, 28362701, 28391050, 28538183, 28693140, 29666008, 30214063, 31482295, 31593983, 31711889, 31822659, 7780155, 7919381, 8049440, 8118036, 8412328, 8613429, 8813093, 9009083, 9067573, 9192861, 9266939, 9432037, 9861236		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	12393383, 17243162, 17693189, 18181178		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	30472098		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	8049440		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25959919, 26967394		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	36194576	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32013033	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35162973	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	CTD_human_DG	23770046		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	23770046	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	23770046		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24935473, 28209621, 30592274		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	16951150, 17409414, 20462630, 8932329		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	23770046		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12551823, 15156182, 16342172, 17341266, 17409414, 18181178, 18815193, 21057539, 21795762, 22308434, 22887804, 22972950, 23054648, 24495476, 25491945, 25886616, 26496831, 26815134, 27991928, 28209621, 29879503, 29939287, 30349952, 30462309, 30592274, 30770775, 8049440, 8921366, 8946927		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21276449, 22161860, 23665236		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	23770046		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	23770046		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	23770046		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	23770046		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	11721451, 9009083		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	20556821, 24495476, 25981636, 28693140, 29146883, 7780155, 8695798, 8932329, 9009083, 9031072		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	10641791, 11050005, 11721451, 15156182, 15203277, 17145882, 17409414, 18192504, 18655152, 19016745, 19208846, 19605700, 19665075, 20222800, 20556821, 22050763, 22488406, 22887804, 23471304, 23517670, 25981636, 28693140, 29146883, 29288910, 7780155, 7845018, 8049440, 8695798, 8932329, 9009083, 9031072, 9067573, 9432037		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplastic syndrome	Myelodysplastic Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndrome with Isolated del(5q)	Myelodysplastic syndrome	BEFREE	23054648		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	15326310, 17341266, 19605700, 23155256, 23517670, 28338652, 37705244, 7780155, 8049440, 8171026, 9432037	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic-Myeloproliferative Diseases	Myelodysplastic-Myeloproliferative Diseases	BEFREE	29288910		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	10557037, 10641791, 11587364, 12461752, 12816872, 12972028, 14551738, 1570317, 18815193, 20084277, 28209621, 9447815, 9473235, 9498702, 9763573		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	CTD_human_DG	23770046		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11835339, 11965542, 15156182, 15322764, 17341266, 18613965, 19016745, 22372463, 22634393, 27967290, 29288910, 7780155, 7808006, 8171026, 8313895, 8412328, 8656667, 8656673, 8867720, 9209439, 9432037, 9834202		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	LHGDN	18262061		★☆☆☆☆ Found in Text Mining only
Myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	22847614		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	25849990, 28338652, 29288910, 9044825, 9447818		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	CTD_human_DG	29047144		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	20512145, 24615621, 26545403, 28881764, 30770775		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32752071, 39735594	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal Neoplasms	CTD_human_DG	20512145		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal Neoplasms	Nasopharyngeal Neoplasms	GWASCAT_DG	20512145, 26545403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	10641791, 11587364, 14712237, 15138998, 16951150, 17894555, 20084277, 22553314, 23054648, 24495476, 24703906, 24907396, 25886616, 25959919, 27620344, 27628325, 29405993, 30278283, 30462309, 30576868, 31423253, 8577711, 8656667, 9209363		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	22950073, 7780155, 8171026, 8932329	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	14581340		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29603369		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	GWASDB_DG	23349225		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	GWASCAT_DG	23349225		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	8932329		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	17409414, 20462630, 8932329		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	23770046		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22308434, 23517670, 37525239, 8932329	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancytopenia	Pancytopenia	BEFREE	22972950, 29146883, 29496554, 29540340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancytopenia	Pancytopenia	CTD_human_DG	27725143		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	28965931		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	20601445		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	20601445	Associate	★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	23054648		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	7780155, 9861236		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	24622513		★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	CTD_human_DG	29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, HEREDITARY, 1	Prostate Cancer, Hereditary	CTD_human_DG	29892016		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	24303025	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	28331304, 33106845, 36194576	Associate	★☆☆☆☆ Found in Text Mining only
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia	Orphanet			★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	BEFREE	29540340		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia	Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia	BEFREE	26581901		★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia	Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia	GENOMICS_ENGLAND_DG	26581901		★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia	Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia	ORPHANET_DG	26581901		★☆☆☆☆ Found in Text Mining only
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2	Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia	UNIPROT_DG	26581901		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2	Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia	GENOMICS_ENGLAND_DG	29519864, 29540340		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2	Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Refractory anaemia with excess blasts	Myelodysplastic syndrome	BEFREE	7845018, 8049440		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	8049440		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	8921366		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28693140		★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	19027486, 20357826		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19607727		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32013033, 35162973	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Hydrocele	Testicular Hydrocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombocytopenia 1	Thrombocytopenia	Pubtator	29540340	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	BEFREE	30278283		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	20081105		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28338652, 36195836	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31423253		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29246895		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	36325357	Associate	★☆☆☆☆ Found in Text Mining only