U2AF1 (U2 small nuclear RNA auxiliary factor 1)

Gene

• Entrez ID: 7307
• Gene name: U2 small nuclear RNA auxiliary factor 1
• Gene symbol: U2AF1
• Synonyms (NCBI Gene): FP793, RN, RNU2AF1, U2AF35, U2AFBP
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which pl

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT452698	hsa-miR-3166	PAR-CLIP	20371350
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	20371350
MIRT452698	hsa-miR-3166	PAR-CLIP	20371350
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	20371350
MIRT452698	hsa-miR-3166	PAR-CLIP	20371350
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	20371350
MIRT452698	hsa-miR-3166	PAR-CLIP	20371350
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	20371350
MIRT452698	hsa-miR-3166	PAR-CLIP	21572407
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT452698	hsa-miR-3166	PAR-CLIP	21572407
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT452698	hsa-miR-3166	PAR-CLIP	23446348
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	23446348
MIRT452698	hsa-miR-3166	PAR-CLIP	23446348
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	23446348
MIRT452698	hsa-miR-3166	PAR-CLIP	24398324
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	24398324
MIRT452698	hsa-miR-3166	PAR-CLIP	23592263
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	23592263
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	26701625
MIRT452698	hsa-miR-3166	PAR-CLIP	26701625
MIRT452698	hsa-miR-3166	PAR-CLIP	20371350
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	20371350
MIRT452698	hsa-miR-3166	PAR-CLIP	20371350
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	20371350
MIRT452698	hsa-miR-3166	PAR-CLIP	20371350
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	20371350
MIRT452698	hsa-miR-3166	PAR-CLIP	20371350
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	20371350
MIRT452698	hsa-miR-3166	PAR-CLIP	21572407
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT452698	hsa-miR-3166	PAR-CLIP	21572407
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT452698	hsa-miR-3166	PAR-CLIP	23446348
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	23446348
MIRT452698	hsa-miR-3166	PAR-CLIP	23446348
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	23446348
MIRT452698	hsa-miR-3166	PAR-CLIP	24398324
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	24398324
MIRT452698	hsa-miR-3166	PAR-CLIP	23592263
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	23592263
MIRT1465944	hsa-miR-133a	CLIP-seq
MIRT1465945	hsa-miR-133b	CLIP-seq
MIRT1465946	hsa-miR-3545-3p	CLIP-seq
MIRT1465947	hsa-miR-4705	CLIP-seq
MIRT1465948	hsa-miR-548ag	CLIP-seq
MIRT1465949	hsa-miR-548ai	CLIP-seq
MIRT1465950	hsa-miR-548c-3p	CLIP-seq
MIRT1465951	hsa-miR-582-3p	CLIP-seq
MIRT1465952	hsa-miR-1273d	CLIP-seq
MIRT1465953	hsa-miR-1283	CLIP-seq
MIRT1465944	hsa-miR-133a	CLIP-seq
MIRT1465945	hsa-miR-133b	CLIP-seq
MIRT1465954	hsa-miR-297	CLIP-seq
MIRT1465955	hsa-miR-3149	CLIP-seq
MIRT1465956	hsa-miR-34c-3p	CLIP-seq
MIRT1465946	hsa-miR-3545-3p	CLIP-seq
MIRT1465957	hsa-miR-3622b-5p	CLIP-seq
MIRT1465958	hsa-miR-4307	CLIP-seq
MIRT1465959	hsa-miR-452	CLIP-seq
MIRT1465960	hsa-miR-4676-3p	CLIP-seq
MIRT1465947	hsa-miR-4705	CLIP-seq
MIRT1465948	hsa-miR-548ag	CLIP-seq
MIRT1465949	hsa-miR-548ai	CLIP-seq
MIRT1465950	hsa-miR-548c-3p	CLIP-seq
MIRT1465961	hsa-miR-567	CLIP-seq
MIRT1465951	hsa-miR-582-3p	CLIP-seq
MIRT1465962	hsa-miR-590-3p	CLIP-seq
MIRT1465952	hsa-miR-1273d	CLIP-seq
MIRT1465953	hsa-miR-1283	CLIP-seq
MIRT1465944	hsa-miR-133a	CLIP-seq
MIRT1465945	hsa-miR-133b	CLIP-seq
MIRT1465956	hsa-miR-34c-3p	CLIP-seq
MIRT1465946	hsa-miR-3545-3p	CLIP-seq
MIRT1465957	hsa-miR-3622b-5p	CLIP-seq
MIRT1465959	hsa-miR-452	CLIP-seq
MIRT1465960	hsa-miR-4676-3p	CLIP-seq
MIRT1465947	hsa-miR-4705	CLIP-seq
MIRT1465948	hsa-miR-548ag	CLIP-seq
MIRT1465949	hsa-miR-548ai	CLIP-seq
MIRT1465950	hsa-miR-548c-3p	CLIP-seq
MIRT1465951	hsa-miR-582-3p	CLIP-seq
MIRT1465962	hsa-miR-590-3p	CLIP-seq
MIRT1465952	hsa-miR-1273d	CLIP-seq
MIRT1465953	hsa-miR-1283	CLIP-seq
MIRT1465944	hsa-miR-133a	CLIP-seq
MIRT1465945	hsa-miR-133b	CLIP-seq
MIRT2360799	hsa-miR-3127-3p	CLIP-seq
MIRT1465956	hsa-miR-34c-3p	CLIP-seq
MIRT1465946	hsa-miR-3545-3p	CLIP-seq
MIRT1465957	hsa-miR-3622b-5p	CLIP-seq
MIRT1465947	hsa-miR-4705	CLIP-seq
MIRT1465948	hsa-miR-548ag	CLIP-seq
MIRT1465949	hsa-miR-548ai	CLIP-seq
MIRT1465950	hsa-miR-548c-3p	CLIP-seq
MIRT1465951	hsa-miR-582-3p	CLIP-seq
MIRT1465962	hsa-miR-590-3p	CLIP-seq
MIRT1465952	hsa-miR-1273d	CLIP-seq
MIRT1465962	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IC	9731529, 11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	32343311
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	11551507, 15652350, 16189514, 17577209, 18559666, 20696395, 21460037, 21516116, 21988832, 22365833, 23455924, 23602568, 25416956, 25959826, 28514442, 29892012, 32296183, 32814053, 33961781, 35271311, 39251607
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IBA
GO:0005681	Component	Spliceosomal complex	IDA	9731529
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	IPI	11551507
GO:0006397	Process	MRNA processing	IEA
GO:0006397	Process	MRNA processing	TAS	1388271
GO:0008270	Function	Zinc ion binding	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	TAS	1388271
GO:0015030	Component	Cajal body	TAS	1388271
GO:0016607	Component	Nuclear speck	IEA
GO:0016607	Component	Nuclear speck	ISS
GO:0030628	Function	Pre-mRNA 3'-splice site binding	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0050733	Function	RS domain binding	IEA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638
GO:0089701	Component	U2AF complex	IBA
GO:0089701	Component	U2AF complex	IDA	1824937, 2531895
GO:0089701	Component	U2AF complex	IEA
GO:0089701	Component	U2AF complex	IPI	11551507

Other IDs

• MIM: 191317
• HGNC: 12453
• e!Ensembl: ENSG00000160201

Protein

• UniProt ID: Q01081
• Protein name: Splicing factor U2AF 35 kDa subunit (U2 auxiliary factor 35 kDa subunit) (U2 small nuclear RNA auxiliary factor 1) (U2 snRNP auxiliary factor small subunit)
• Protein function: Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly med
• PDB: 1JMT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00642	zf-CCCH	13 → 39	Zinc finger C-x8-C-x5-C-x3-H type (and similar)	Family
  PF00076	RRM_1	82 → 141	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF00642	zf-CCCH	149 → 175	Zinc finger C-x8-C-x5-C-x3-H type (and similar)	Family

• Sequence:

  MAEYLASIFGTEKDKVNCSFYFKIGACRHGDRCSRLHNKPTFSQTIALLNIYRNPQNSSQ
  SADGLRCAVSDVEMQEHYDEFFEEVFTEMEEKYGEVEEMNVCDNLGDHLVGNVYVKFRRE
  EDAEKAVIDLNNRWFNGQPIHAELSPVTDFREACCRQYEMGECTRGGFCNFMHLKPISRE
  LRRELYGRRRKKHRSRSRSRERRSRSRDRGRGGGGGGGGGGGGRERDRRRSRDRERSGRF
  

• Sequence length: 240

Pathways

KEGG:

Spliceosome
Shigellosis

Reactome:

Transport of Mature mRNA derived from an Intron-Containing Transcript
mRNA Splicing - Major Pathway
mRNA 3'-end processing
RNA Polymerase II Transcription Termination

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
Familial cancer of breast	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRON METABOLISM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROMES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
U2AF1-related disorder	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	28814946		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24498085, 27776121, 31836708		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	37087521	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	36129843	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	29395063		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	29395063	Associate	★☆☆☆☆ Found in Text Mining only
Bjornstad syndrome	Bjornstad syndrome	Pubtator	37558665	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	35427424	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27776121		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	25553291		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22200771		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	28938223		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	39460851	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	20628762		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated intravascular coagulation	Pubtator	40066790	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	19783846, 8660980		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	31945802, 34402416	Associate	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	37735430	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30341906		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	34635145	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	34581783	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	25267526		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	25267526	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	25901584		★☆☆☆☆ Found in Text Mining only
Hematoma	Hematoma	Pubtator	40066790	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	25244093	Associate	★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	36129843	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	29649018		★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	36485103	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	22773603, 23335386		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	23861105, 25267526, 25326705, 26732650, 37967363	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	25267526, 26732650		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	23775717	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	22158538, 22773603, 23029227, 24498085, 25331116, 25412851, 25550361, 26799334, 29321554, 32001512, 32112433, 32380535, 32699322, 32732356, 33122737, 33885753, 34183647, 35041928, 35303483, 35708137, 35967966, 36799265, 36843541, 37441846, 37735430, 37766563, 38299584, 38636413	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	22323480, 22773603, 23335386	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	22773603	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Neutrophilic Chronic	Neutrophilic leukemia	Pubtator	33822276, 36375042	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	26886259	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CLINVAR_DG	22158538, 23029227, 24498085, 26619011		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23029227, 23645565, 24498085, 25331116, 25965570, 31011167, 31754743		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	Myeloid Leukemia	BEFREE	31692115		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	22773603, 23335386, 23690417		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29991672	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27776121		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23335386, 24498085, 25271374, 28893951, 29649018, 30054334, 31011167		★☆☆☆☆ Found in Text Mining only
Malignant Uterine Corpus Neoplasm	Malignant Uterine Corpus Neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	22238327, 23958953	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	22238327, 23958953		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	28801450	Associate	★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	25311244, 27184077		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	33438800	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	24903747		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22158538, 22200771, 22238327, 22323480, 23029227, 23280334, 23645565, 23861105, 24903747, 25311244, 25965570, 26115659, 26769228, 26799334, 27184077, 28436936, 28555081, 28938223, 29057546, 30054334, 30152885, 30322915, 31011167, 31439048, 31680297, 31754743		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CTD_human_DG	22158538		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	UNIPROT_DG	22158538, 25311244		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CLINVAR_DG	23861105, 26619011		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CGI_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	22158538, 22238327, 22323480, 22343920, 22389253, 23029227, 23861105, 25311244, 26115659, 26508027, 26799334, 26848861, 27255165, 27419369, 28220884, 28436936, 28555081, 28850223, 29057546, 29417633, 29930011, 30152885, 31011167, 31680297, 31772163, 31964915, 32001512, 32343311, 32380535, 32476595, 32958768, 33054116, 33122737, 34183647, 34215620, 34620690, 35041928, 35303483, 35396491, 36109871, 36129843, 36216757, 36436542, 37087521, 37403747, 37558665, 37735430, 37766563, 38299584, 40512417	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	26799334		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	8660980		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23029227, 23775717, 26637732, 27602765, 27776121		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	25412851, 30194306, 32343311, 33689684	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	CTD_human_DG	18924182		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	11830556		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36292918	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	27255165		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	Pubtator	27255165	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	33261069	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	27447873		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	28464892	Associate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	27602765		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	27447873, 28464892		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Refractory anaemia with excess blasts	Myelodysplastic syndrome	BEFREE	24668493		★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	22158538, 30322915		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28814946		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	27991718	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	27447873		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	35942592	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	8660980		★☆☆☆☆ Found in Text Mining only
Uterine Carcinosarcoma	Endometrial Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only