KDM1A (lysine demethylase 1A)

Gene

• Entrez ID: 23028
• Gene name: Lysine demethylase 1A
• Gene symbol: KDM1A
• Synonyms (NCBI Gene): AIMAH3, AOF2, BHC110, CPRF, KDM1, LSD1
• Chromosome: 1
• Chromosome location: 1p36.12
• Summary: This gene encodes a nuclear protein containing a SWIRM domain, a FAD-binding motif, and an amine oxidase domain. This protein is a component of several histone deacetylase complexes, though it silences genes by functioning as a histone demethylase. Altern

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs864309714	T>C	Pathogenic	Missense variant, coding sequence variant
rs864309715	G>A	Pathogenic	Missense variant, coding sequence variant
rs864309716	A>G	Pathogenic	Missense variant, coding sequence variant
rs1553129293	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553130904	A>G	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004579	hsa-miR-137	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	20682795
MIRT004579	hsa-miR-137	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	20682795
MIRT004579	hsa-miR-137	Luciferase reporter assay	23400681
MIRT020665	hsa-miR-155-5p	Proteomics	18668040
MIRT046281	hsa-miR-23b-3p	CLASH	23622248
MIRT037998	hsa-miR-500a-5p	CLASH	23622248
MIRT004579	hsa-miR-137	Luciferase reporter assay	24084696
MIRT004579	hsa-miR-137	Luciferase reporter assay	24084696
MIRT004579	hsa-miR-137	Luciferase reporter assay	24084696
MIRT004579	hsa-miR-137	Luciferase reporter assay	24084696
MIRT020665	hsa-miR-155-5p	Western blotting, Immunofluorescence, qRT-PCR	32908449
MIRT1083979	hsa-miR-3129-3p	CLIP-seq
MIRT2021240	hsa-miR-1207-3p	CLIP-seq
MIRT2021241	hsa-miR-1290	CLIP-seq
MIRT2021242	hsa-miR-3165	CLIP-seq
MIRT2021243	hsa-miR-3167	CLIP-seq
MIRT2021244	hsa-miR-325	CLIP-seq
MIRT2021245	hsa-miR-383	CLIP-seq
MIRT2021246	hsa-miR-4264	CLIP-seq
MIRT2021247	hsa-miR-4433	CLIP-seq
MIRT2021248	hsa-miR-4459	CLIP-seq
MIRT2021249	hsa-miR-450b-3p	CLIP-seq
MIRT2021250	hsa-miR-4654	CLIP-seq
MIRT2021251	hsa-miR-4713-3p	CLIP-seq
MIRT2021252	hsa-miR-4755-3p	CLIP-seq
MIRT2021253	hsa-miR-4768-3p	CLIP-seq
MIRT2021254	hsa-miR-4769-5p	CLIP-seq
MIRT2021255	hsa-miR-4772-5p	CLIP-seq
MIRT2021256	hsa-miR-4797-3p	CLIP-seq
MIRT2021257	hsa-miR-628-3p	CLIP-seq
MIRT2021258	hsa-miR-638	CLIP-seq
MIRT2021259	hsa-miR-769-3p	CLIP-seq
MIRT2021260	hsa-miR-876-5p	CLIP-seq
MIRT2021245	hsa-miR-383	CLIP-seq
MIRT2021255	hsa-miR-4772-5p	CLIP-seq
MIRT2021246	hsa-miR-4264	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	19497860
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	17805299, 35013237
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000781	Component	Chromosome, telomeric region	IDA	24529708
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	27292636
GO:0000785	Component	Chromatin	IDA	17277772
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISS	20833138
GO:0001837	Process	Epithelial to mesenchymal transition	IDA	16096638
GO:0002039	Function	P53 binding	IPI	17805299
GO:0002052	Process	Positive regulation of neuroblast proliferation	IMP	23400681
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IDA	16079795, 20228790, 24217620, 33980486
GO:0003682	Function	Chromatin binding	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	20833138
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	IMP	16079795
GO:0003713	Function	Transcription coactivator activity	ISS
GO:0003714	Function	Transcription corepressor activity	IDA	19497860
GO:0003714	Function	Transcription corepressor activity	IMP	17805299
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	16169070, 16956976, 17043677, 17537733, 17687328, 17805299, 19497860, 19703393, 20228790, 20389281, 20448663, 20467437, 20562920, 21258344, 21300290, 21516116, 23022380, 23455924, 23592795, 23752268, 24529708, 24726434, 25609649, 26226427, 26751641, 28420882, 28947780, 29030483, 314
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	33980486
GO:0005634	Component	Nucleus	IDA	16079795, 19497860
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	ISS
GO:0005694	Component	Chromosome	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IMP	16079795
GO:0010569	Process	Regulation of double-strand break repair via homologous recombination	IMP	24217620
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IDA	27292636
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0016491	Function	Oxidoreductase activity	IDA	15620353
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0019899	Function	Enzyme binding	IPI	17277772
GO:0021987	Process	Cerebral cortex development	IEA
GO:0031398	Process	Positive regulation of protein ubiquitination	IMP	24217620
GO:0032452	Function	Histone demethylase activity	EXP	16079795, 18066052
GO:0032452	Function	Histone demethylase activity	IDA	19497860
GO:0032452	Function	Histone demethylase activity	TAS
GO:0032453	Function	Histone H3K4 demethylase activity	IDA	15620353, 24217620, 27292636
GO:0032454	Function	Histone H3K9 demethylase activity	IDA	16079795, 20228790
GO:0032454	Function	Histone H3K9 demethylase activity	IEA
GO:0032454	Function	Histone H3K9 demethylase activity	TAS
GO:0032880	Process	Regulation of protein localization	IMP	24217620
GO:0032991	Component	Protein-containing complex	IDA	24217620
GO:0034644	Process	Cellular response to UV	IDA	24217620
GO:0035097	Component	Histone methyltransferase complex	IDA	19497860
GO:0036211	Process	Protein modification process	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IBA
GO:0042162	Function	Telomeric DNA binding	IDA	24529708
GO:0042551	Process	Neuron maturation	IEA
GO:0042802	Function	Identical protein binding	IPI	23455924, 36321378
GO:0043426	Function	MRF binding	IDA	20833138
GO:0043426	Function	MRF binding	IEA
GO:0043518	Process	Negative regulation of DNA damage response, signal transduction by p53 class mediator	IMP	17805299
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045793	Process	Positive regulation of cell size	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20833138
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046098	Process	Guanine metabolic process	IEA
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA
GO:0050660	Function	Flavin adenine dinucleotide binding	IDA	15620353
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0050681	Function	Nuclear androgen receptor binding	IDA	16079795
GO:0050767	Process	Regulation of neurogenesis	IEA
GO:0051240	Process	Positive regulation of multicellular organismal process	IEA
GO:0055001	Process	Muscle cell development	ISS	20833138
GO:0060765	Process	Regulation of androgen receptor signaling pathway	TAS
GO:0060992	Process	Response to fungicide	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:0061752	Function	Telomeric repeat-containing RNA binding	IDA	24529708
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071480	Process	Cellular response to gamma radiation	IMP	24217620
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	27566776
GO:0140297	Function	DNA-binding transcription factor binding	IDA	20833138
GO:0140457	Function	Protein demethylase activity	IMP	17805299
GO:0140682	Function	FAD-dependent H3K4me/H3K4me3 demethylase activity	IBA
GO:0140682	Function	FAD-dependent H3K4me/H3K4me3 demethylase activity	IDA	20228790, 27292636
GO:0140682	Function	FAD-dependent H3K4me/H3K4me3 demethylase activity	IEA
GO:0140861	Process	DNA repair-dependent chromatin remodeling	IDA	24217620
GO:0140861	Process	DNA repair-dependent chromatin remodeling	IEA
GO:0160217	Process	Negative regulation of transcription initiation-coupled chromatin remodeling	IDA	33980486
GO:1902166	Process	Negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IMP	17805299
GO:1902254	Process	Negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IMP	17805299
GO:1990391	Component	DNA repair complex	IDA	24217620
GO:1990841	Function	Promoter-specific chromatin binding	ISS
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	IEA
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	ISS
GO:2000648	Process	Positive regulation of stem cell proliferation	ISS

Other IDs

• MIM: 609132
• HGNC: 29079
• e!Ensembl: ENSG00000004487

Protein

• UniProt ID: O60341
• Protein name: Lysine-specific histone demethylase 1A (EC 1.14.99.66) (BRAF35-HDAC complex protein BHC110) (Flavin-containing amine oxidase domain-containing protein 2) ([histone H3]-dimethyl-L-lysine(4) FAD-dependent demethylase 1A)
• Protein function: Histone demethylase that can demethylate both 'Lys-4' (H3K4me) and 'Lys-9' (H3K9me) of histone H3, thereby acting as a coactivator or a corepressor, depending on the context (PubMed:15620353, PubMed:15811342, PubMed:16079794, PubMed:16079795, Pu
• PDB: 2COM, 2DW4, 2EJR, 2H94, 2HKO, 2IW5, 2L3D, 2UXN, 2UXX, 2V1D, 2X0L, 2XAF, 2XAG, 2XAH, 2XAJ, 2XAQ, 2XAS, 2Y48, 2Z3Y, 2Z5U, 3ABT, 3ABU, 3ZMS, 3ZMT, 3ZMU, 3ZMV, 3ZMZ, 3ZN0, 3ZN1, 4BAY, 4CZZ, 4KUM, 4UV8, 4UV9, 4UVA, 4UVB, 4UVC, 4UXN, 4XBF, 5AFW, 5H6Q, 5H6R, 5IT3, 5L3B, 5L3C, 5L3D, 5L3E, 5L3F, 5L3G, 5LBQ, 5LGN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04433	SWIRM	177 → 264	SWIRM domain	Domain
  PF01593	Amino_oxidase	288 → 826	Flavin containing amine oxidoreductase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:16079795}.
• Sequence:

  MLSGKKAAAAAAAAAAAATGTEAGPGTAGGSENGSEVAAQPAGLSGPAEVGPGAVGERTP
  RKKEPPRASPPGGLAEPPGSAGPQAGPTVVPGSATPMETGIAETPEGRRTSRRKRAKVEY
  REMDESLANLSEDEYYSEEERNAKAEKEKKLPPPPPQAPPEEENESEPEEPSGVEGAAFQ
  SRLPHDRMTSQEAACFPDIISGPQQTQKVFLFIRNRTLQLWLDNPKIQLTFEATLQQLEA
  PYNSDTVLVHRVHSYLERHGLINFGIYKRIKPLPTKKTGKVIIIGSGVSGLAAARQLQSF
  GMDVTLLEARDRVGGRVATFRKGNYVADLGAMVVTGLGGNPMAVVSKQVNMELAKIKQKC
  PLYEANGQAVPKEKDEMVEQEFNRLLEATSYLSHQLDFNVLNNKPVSLGQALEVVIQLQE
  KHVKDEQIEHWKKIVKTQEELKELLNKMVNLKEKIKELHQQYKEASEVKPPRDITAEFLV
  KSKHRDLTALCKEYDELAETQGKLEEKLQELEANPPSDVYLSSRDRQILDWHFANLEFAN
  ATPLSTLSLKHWDQDDDFEFTGSHLTVRNGYSCVPVALAEGLDIKLNTAVRQVRYTASGC
  EVIAVNTRSTSQTFIYKCDAVLCTLPLGVLKQQPPAVQFVPPLPEWKTSAVQRMGFGNLN
  KVVLCFDRVFWDPSVNLFGHVGSTTASRGELFLFWNLYKAPILLALVAGEAAGIMENISD
  DVIVGRCLAILKGIFGSSAVPQPKETVVSRWRADPWARGSYSYVAAGSSGNDYDLMAQPI
  TPGPSIPGAPQPIPRLFFAGEHTIRNYPATVHGALLSGLREAGRIADQFLGAMYTLPRQA
  TPGVPAQQSPSM

• Sequence length: 852

Pathways

KEGG:

Thermogenesis

Reactome:

HDACs deacetylate histones
HDMs demethylate histones
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
Estrogen-dependent gene expression
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
Factors involved in megakaryocyte development and platelet production

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
Intellectual disability	Likely pathogenic	rs1553130904	RCV001527312	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2124523419	RCV002274347	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	Likely pathogenic; Pathogenic	rs2124523419, rs864309714, rs864309715, rs864309716	RCV005869769 RCV000203273 RCV000203263 RCV000203268	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Likely pathogenic	rs2124523419	RCV005930208	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRITICAL ILLNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUSHING SYNDROME DUE TO BILATERAL MACRONODULAR ADRENOCORTICAL DISEASE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERPLASIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KDM1A-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental and congenital anomalies	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS, CASTRATION-RESISTANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	27903753, 31676828		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	29502954, 30568590		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	30679800, 30992567		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	28722470, 31576004		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	22464800, 26837761		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	30828079		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	31040714		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	24252778, 30659187		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	28238805, 30067082		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	32908449	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	34980595	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	33712455	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	23612572, 23928305	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20042638, 22812534, 22992372, 23000163, 23178685, 24075993, 25377474, 25679396, 26833707, 27212032, 27572339, 27893717, 28601046, 28931919, 29137219, 29190800, 29463994, 30416854, 31409898, 31801957		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21452019, 21805138, 22533360, 23354309, 23699411, 24075993, 25139823, 25679396, 26833707, 27212032, 27325688, 28931919, 28947780, 29190800, 29311580, 31409898, 31534138, 31833203, 35105803, 37223020, 37540490, 39242625	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23900215, 23922913, 25674267, 25956476, 26062444, 26166558, 28121627, 36368958, 37540490	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37138231	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19896696		★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	26166558	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23015317, 23236241, 28878246, 31805626, 35970393, 36524545	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	33026191, 33063436	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	26438601		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21546573, 27058897		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	25956476	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	38015024	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	36008402	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	29619118, 34358469	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	24252778, 30659187		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	36368958	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrosarcoma	Chondrosarcoma	BEFREE	22245111		★☆☆☆☆ Found in Text Mining only
CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES	Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	UNIPROT_DG	23020937, 24838796, 26656649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES	Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	GENOMICS_ENGLAND_DG	23020937, 26656649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES	Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	ORPHANET_DG	24838796, 26656649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES	Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	CLINVAR_DG	26656649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES	Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23400681		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	17463086	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	25043185		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23072722, 28112720, 30105513, 30638951, 31471467, 31786844		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17463086, 23900215, 23922913, 25043185, 28121627, 28779166, 31471467, 31704733, 31786844, 32277632	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30190170		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30190170		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30190170		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	34906447	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	34230007	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26656649, 33712455	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	32345350, 37958805	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29207083	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29207083		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	30190170		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	31040714		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	28098854		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28098854, 30443761		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	24388204, 36232341	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	24735673		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	31289565		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25674267	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	31289565		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23747727	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	22245111, 29997151, 31207107, 31231465		★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	28993646		★☆☆☆☆ Found in Text Mining only
Ganglioneuroblastoma	Ganglioneuroblastoma	BEFREE	23816987		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	29130516		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	21653597, 30592774, 30828079, 31186379, 36414381	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27632941, 27893719, 30592774, 30683859, 30828079, 30951900, 31186379		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27632941, 27893719, 30592774, 30683859, 30828079, 30951900, 31186379		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	27632941, 27893719		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34998158	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26656649		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	26656649		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	22957941		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	27375009		★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	Pubtator	26603726	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	30655368	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	19208907, 25016074		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	25035152		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21670155, 25043185	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	30590691		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27094131		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	27094131	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	40289758	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	20408841		★☆☆☆☆ Found in Text Mining only
Kabuki make-up syndrome	Kabuki Syndrome	BEFREE	24838796		★☆☆☆☆ Found in Text Mining only
Kabuki syndrome	Kabuki syndrome	Pubtator	33990969	Associate	★☆☆☆☆ Found in Text Mining only
KBG syndrome	KBG Syndrome	BEFREE	24838796		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22464800, 27879268, 27903753, 28069602, 28387360, 28720390, 29502954, 30073149, 30451935, 31024166, 31756917		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	23795303, 26652247, 32284990, 32606137, 33929501, 36171271	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23508577, 27748863, 28158205, 30514804, 30828079, 30992567, 32284990, 33495312, 33929501, 34016956, 34714913, 35003895, 35590033, 36171271, 36976323, 37055414, 40557150	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	20408841	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	33824267	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24699304, 25737450, 26837761, 28722477, 28892104, 29156705, 29343972, 29502954, 29590629, 30073149, 30518104, 30679800, 30828079, 30992567, 31076479, 31576004, 31780813, 31801559		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	26225839, 26872725, 28422711		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19896696, 23015317, 25649769, 28377178, 29259010, 30898548, 30929918, 31805626		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	23015317		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21546573, 22493729, 37923740, 37979167	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36357457	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23747727, 34171978	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25956476, 26166558, 31471467	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	23928305		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20042638, 22812534, 22992372, 23000163, 23011797, 23178685, 24075993, 25377474, 25679396, 26833707, 27212032, 27572339, 27893717, 28601046, 28931919, 29137219, 29190800, 29463994, 30416854, 31409898, 31801957		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28098854		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	31289565		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28878246, 29259010		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21546573, 27058897, 30568590		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	26225839, 26872725, 28422711		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24561118, 29286182, 30846414		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17145880, 20127736, 22867098, 23384557, 27484796, 27526323, 28219005, 28811844, 28916652		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27470390, 28209170, 28214253, 29130516, 29789713, 31646567		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	25040359		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21975933, 22957941, 23248157, 23612539, 24075993, 25040359, 25168368, 25901533, 26111032, 26438601, 26489763, 26872725, 27058897, 27470390, 27769034, 27879268, 28069602, 28377178, 28667074, 28720390, 28722477, 28783174, 28811844, 28916652, 29190800, 29259010, 29559475, 29633255, 30073149, 30448189, 30518104, 30866496, 30978443, 31331073, 31756917, 31801559		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23400681		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	25043185		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22199269, 23592333, 24075993, 27212032, 29190800		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	24252778, 30659187		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	30227871	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	29438700		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	29937226		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	36130505	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma Malignant	Mesothelioma	Pubtator	34593606	Associate	★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	36524545	Associate	★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	29559475		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	26225839	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	29559475, 30850265		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29325932		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16079795, 20042638, 22199269, 23011797, 23015317, 23248157, 23400681, 23592333, 24075993, 24252778, 24316513, 26062444, 26837761, 26872725, 27470390, 27479862, 28029651, 28186757, 28422711, 28667074, 28811844, 29130516, 29559475, 29937226, 29955087, 29997151, 30659187, 30723171, 31146914, 31191868, 31211500, 31249575, 31409898, 31801957		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	24735673		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	33495312	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23400681, 23816987, 24316513, 25018020, 26062444, 28783174		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	23816987, 24316513, 26062444, 27894074, 28783174	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	26111032, 28993646		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22493729, 26840083, 27027352, 27058897, 28029651, 28223039, 28722470, 29934325		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	22493729		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32878268	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29707403		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	24388204	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26489763, 32649682, 32762026, 37973845, 39595554	Associate	★☆☆☆☆ Found in Text Mining only
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24561118, 29286182, 30846414		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27644252, 34171978, 39239542	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	24068396, 31211500		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	28069602, 28627608		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17145880, 20127736, 22867098, 23384557, 27484796, 27526323, 28219005, 28811844, 28916652		★☆☆☆☆ Found in Text Mining only
Prostatic Cancer, Castration-Resistant	Prostatic Cancer, Castration-Resistant	CTD_human_DG	29581250		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17145880		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22014572, 26461474, 27484796, 29581250, 32403054, 35944897, 36877164, 37184661, 37958805	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23384557	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms, Castration-Resistant	Prostatic Neoplasms, Castration-Resistant	CTD_human_DG	29581250		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinoblastoma	Retinoblastoma	Pubtator	33475455	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	35297943	Stimulate	★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	37511576	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	22245111		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	28617441	Associate	★☆☆☆☆ Found in Text Mining only
Riboflavin Deficiency	Riboflavin deficiency	Pubtator	24744315	Inhibit	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	31207107		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	24963049, 29997151, 32842875, 35298000	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	28667074, 30723171, 30852141, 31146914		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	36008402	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29619118		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25791791, 30257352, 31289565, 31308693		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22847005, 35563463	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	25040359		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27470390, 28209170, 28214253, 29130516, 29789713, 31646567		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28214253, 30828079, 31646567, 34060205	Associate	★☆☆☆☆ Found in Text Mining only
Syringomyelia	Syringomyelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	CTD_human_DG	29438700		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	21546573	Associate	★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	24068396	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	24068396		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	24068396		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	24068396, 35198054	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	23354309, 25679396	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25679396, 31249575		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21400613, 35350943	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32725356, 34350095	Associate	★☆☆☆☆ Found in Text Mining only