PCNA (proliferating cell nuclear antigen)

Gene

• Entrez ID: 5111
• Gene name: Proliferating cell nuclear antigen
• Gene symbol: PCNA
• Synonyms (NCBI Gene): ATLD2
• Chromosome: 20
• Chromosome location: 20p12.3
• Summary: The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs369958038	C>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016528	hsa-miR-193b-3p	Microarray	20304954
MIRT023210	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT030351	hsa-miR-26b-5p	Microarray	19088304
MIRT030631	hsa-miR-24-3p	Reporter assay;Western blot;qRT-PCR	19748357
MIRT050722	hsa-miR-18a-5p	CLASH	23622248
MIRT049960	hsa-miR-30a-5p	CLASH	23622248
MIRT039725	hsa-miR-615-3p	CLASH	23622248
MIRT560227	hsa-miR-4728-3p	PAR-CLIP	20371350
MIRT560226	hsa-miR-16-1-3p	PAR-CLIP	20371350
MIRT560225	hsa-miR-4720-5p	PAR-CLIP	20371350
MIRT560224	hsa-miR-4799-3p	PAR-CLIP	20371350
MIRT560223	hsa-miR-5588-5p	PAR-CLIP	20371350
MIRT560222	hsa-miR-5580-5p	PAR-CLIP	20371350
MIRT560221	hsa-miR-222-5p	PAR-CLIP	20371350
MIRT560220	hsa-miR-4642	PAR-CLIP	20371350
MIRT454878	hsa-miR-548u	PAR-CLIP	21572407
MIRT454877	hsa-miR-7161-5p	PAR-CLIP	21572407
MIRT454876	hsa-miR-8087	PAR-CLIP	21572407
MIRT350330	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	21572407
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	21572407
MIRT454873	hsa-miR-542-3p	PAR-CLIP	21572407
MIRT454872	hsa-miR-877-5p	PAR-CLIP	21572407
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	21572407
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	21572407
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	21572407
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	21572407
MIRT454873	hsa-miR-542-3p	PAR-CLIP	21572407
MIRT454872	hsa-miR-877-5p	PAR-CLIP	21572407
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	21572407
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	21572407
MIRT350330	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	23446348
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	23446348
MIRT454873	hsa-miR-542-3p	PAR-CLIP	23446348
MIRT454872	hsa-miR-877-5p	PAR-CLIP	23446348
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	23446348
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	23446348
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	24398324
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	24398324
MIRT454873	hsa-miR-542-3p	PAR-CLIP	24398324
MIRT454872	hsa-miR-877-5p	PAR-CLIP	24398324
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	24398324
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	24398324
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	23592263
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	23592263
MIRT454873	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT454872	hsa-miR-877-5p	PAR-CLIP	23592263
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	23592263
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT454878	hsa-miR-548u	PAR-CLIP	23592263
MIRT454877	hsa-miR-7161-5p	PAR-CLIP	23592263
MIRT454876	hsa-miR-8087	PAR-CLIP	23592263
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	23592263
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	23592263
MIRT454873	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT454872	hsa-miR-877-5p	PAR-CLIP	23592263
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	23592263
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	26701625
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	26701625
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	26701625
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	26701625
MIRT454873	hsa-miR-542-3p	PAR-CLIP	26701625
MIRT454873	hsa-miR-542-3p	PAR-CLIP	26701625
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	26701625
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	26701625
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	26701625
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	26701625
MIRT454872	hsa-miR-877-5p	PAR-CLIP	26701625
MIRT454872	hsa-miR-877-5p	PAR-CLIP	26701625
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	27292025
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	27292025
MIRT454873	hsa-miR-542-3p	PAR-CLIP	27292025
MIRT454878	hsa-miR-548u	PAR-CLIP	27292025
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	27292025
MIRT454877	hsa-miR-7161-5p	PAR-CLIP	27292025
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	27292025
MIRT454876	hsa-miR-8087	PAR-CLIP	27292025
MIRT454872	hsa-miR-877-5p	PAR-CLIP	27292025
MIRT732824	hsa-miR-527	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	33472586
MIRT732851	hsa-miR-28-5p	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	33624782
MIRT733817	hsa-miR-451b	qRT-PCR, Western blotting	33725258
MIRT023210	hsa-miR-124-3p	Microarray, qRT-PCR	31788082
MIRT560227	hsa-miR-4728-3p	PAR-CLIP	20371350
MIRT560226	hsa-miR-16-1-3p	PAR-CLIP	20371350
MIRT560225	hsa-miR-4720-5p	PAR-CLIP	20371350
MIRT560224	hsa-miR-4799-3p	PAR-CLIP	20371350
MIRT560223	hsa-miR-5588-5p	PAR-CLIP	20371350
MIRT560222	hsa-miR-5580-5p	PAR-CLIP	20371350
MIRT560221	hsa-miR-222-5p	PAR-CLIP	20371350
MIRT560220	hsa-miR-4642	PAR-CLIP	20371350
MIRT454878	hsa-miR-548u	PAR-CLIP	21572407
MIRT454877	hsa-miR-7161-5p	PAR-CLIP	21572407
MIRT454876	hsa-miR-8087	PAR-CLIP	21572407
MIRT350330	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	21572407
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	21572407
MIRT454873	hsa-miR-542-3p	PAR-CLIP	21572407
MIRT454872	hsa-miR-877-5p	PAR-CLIP	21572407
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	21572407
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	21572407
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	21572407
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	21572407
MIRT454873	hsa-miR-542-3p	PAR-CLIP	21572407
MIRT454872	hsa-miR-877-5p	PAR-CLIP	21572407
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	21572407
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	21572407
MIRT350330	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	23446348
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	23446348
MIRT454873	hsa-miR-542-3p	PAR-CLIP	23446348
MIRT454872	hsa-miR-877-5p	PAR-CLIP	23446348
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	23446348
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	23446348
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	24398324
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	24398324
MIRT454873	hsa-miR-542-3p	PAR-CLIP	24398324
MIRT454872	hsa-miR-877-5p	PAR-CLIP	24398324
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	24398324
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	24398324
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	23592263
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	23592263
MIRT454873	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT454872	hsa-miR-877-5p	PAR-CLIP	23592263
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	23592263
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT454878	hsa-miR-548u	PAR-CLIP	23592263
MIRT454877	hsa-miR-7161-5p	PAR-CLIP	23592263
MIRT454876	hsa-miR-8087	PAR-CLIP	23592263
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	23592263
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	23592263
MIRT454873	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT454872	hsa-miR-877-5p	PAR-CLIP	23592263
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	23592263
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT1218165	hsa-miR-1276	CLIP-seq
MIRT1218166	hsa-miR-371-5p	CLIP-seq
MIRT1218167	hsa-miR-371b-5p	CLIP-seq
MIRT1218168	hsa-miR-4277	CLIP-seq
MIRT1218169	hsa-miR-513c	CLIP-seq
MIRT1218170	hsa-miR-514b-5p	CLIP-seq
MIRT1218171	hsa-miR-1269	CLIP-seq
MIRT1218172	hsa-miR-1269b	CLIP-seq
MIRT1218165	hsa-miR-1276	CLIP-seq
MIRT1218173	hsa-miR-154	CLIP-seq
MIRT1218174	hsa-miR-2467-3p	CLIP-seq
MIRT1218175	hsa-miR-3123	CLIP-seq
MIRT1218176	hsa-miR-338-5p	CLIP-seq
MIRT1218177	hsa-miR-345	CLIP-seq
MIRT1218178	hsa-miR-3678-3p	CLIP-seq
MIRT1218179	hsa-miR-3682-5p	CLIP-seq
MIRT1218166	hsa-miR-371-5p	CLIP-seq
MIRT1218167	hsa-miR-371b-5p	CLIP-seq
MIRT1218180	hsa-miR-3919	CLIP-seq
MIRT1218181	hsa-miR-3925-5p	CLIP-seq
MIRT1218182	hsa-miR-3976	CLIP-seq
MIRT1218183	hsa-miR-4263	CLIP-seq
MIRT1218168	hsa-miR-4277	CLIP-seq
MIRT1218184	hsa-miR-4520b-3p	CLIP-seq
MIRT1218185	hsa-miR-4529-3p	CLIP-seq
MIRT1218186	hsa-miR-4699-3p	CLIP-seq
MIRT1218169	hsa-miR-513c	CLIP-seq
MIRT1218170	hsa-miR-514b-5p	CLIP-seq
MIRT1218187	hsa-miR-526b	CLIP-seq
MIRT1218188	hsa-miR-570	CLIP-seq
MIRT1218189	hsa-miR-576-5p	CLIP-seq
MIRT1218190	hsa-miR-578	CLIP-seq
MIRT1218191	hsa-miR-877	CLIP-seq
MIRT1218171	hsa-miR-1269	CLIP-seq
MIRT1218172	hsa-miR-1269b	CLIP-seq
MIRT1218165	hsa-miR-1276	CLIP-seq
MIRT1218177	hsa-miR-345	CLIP-seq
MIRT1218166	hsa-miR-371-5p	CLIP-seq
MIRT1218167	hsa-miR-371b-5p	CLIP-seq
MIRT1218183	hsa-miR-4263	CLIP-seq
MIRT1218168	hsa-miR-4277	CLIP-seq
MIRT2063021	hsa-miR-4457	CLIP-seq
MIRT1218184	hsa-miR-4520b-3p	CLIP-seq
MIRT1218185	hsa-miR-4529-3p	CLIP-seq
MIRT2063022	hsa-miR-513b	CLIP-seq
MIRT1218169	hsa-miR-513c	CLIP-seq
MIRT1218170	hsa-miR-514b-5p	CLIP-seq
MIRT1218189	hsa-miR-576-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AHR	Activation	12417031
ATM	Unknown	22362778
CDX1	Activation	11743638
E2F1	Activation	14618416
EP300	Repression	10618724
EZH2	Activation	21629038
HDAC1	Repression	9650586
HDAC1	Unknown	18691180
HMGN1	Unknown	22393258
HOXA1	Unknown	17213808
ING1	Unknown	18691180
MYC	Unknown	18809243
PRDM1	Unknown	20530581
PURA	Repression	18386260
RB1	Repression	9671466
RFX1	Repression	10336433
TFDP1	Activation	14618416
YY1	Activation	16099430
YY1	Unknown	7479004

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000307	Component	Cyclin-dependent protein kinase holoenzyme complex	IEA
GO:0000701	Function	Purine-specific mismatch base pair DNA N-glycosylase activity	IDA	11005803
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000785	Component	Chromatin	IDA	23277426
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	23277426, 24939902
GO:0003684	Function	Damaged DNA binding	IDA	24939902
GO:0005515	Function	Protein binding	IPI	8861913, 9305916, 10873631, 11005803, 11022036, 11595739, 14657243, 15225546, 15358233, 15543136, 15550930, 15576034, 15805117, 16000169, 16189514, 16482215, 16510448, 16826239, 17955473, 18316726, 18499658, 18692475, 18719106, 19150984, 19419956, 19505873, 19730436, 19736315, 20457
GO:0005634	Component	Nucleus	IDA	15494374, 19734146, 19736315, 24939902
GO:0005634	Component	Nucleus	IEA
GO:0005652	Component	Nuclear lamina	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005657	Component	Replication fork	IDA	9774970
GO:0005657	Component	Replication fork	IEA
GO:0005813	Component	Centrosome	IDA	18331714
GO:0006260	Process	DNA replication	IEA
GO:0006272	Process	Leading strand elongation	IBA
GO:0006275	Process	Regulation of DNA replication	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006287	Process	Base-excision repair, gap-filling	IEA
GO:0006298	Process	Mismatch repair	IBA
GO:0006298	Process	Mismatch repair	IDA	11005803
GO:0006325	Process	Chromatin organization	IDA	37014751
GO:0006974	Process	DNA damage response	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0007507	Process	Heart development	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0019899	Function	Enzyme binding	IEA
GO:0019899	Function	Enzyme binding	IPI	24115439
GO:0019985	Process	Translesion synthesis	IBA
GO:0019985	Process	Translesion synthesis	IDA	20129063
GO:0030331	Function	Nuclear estrogen receptor binding	IEA
GO:0030337	Function	DNA polymerase processivity factor activity	IBA
GO:0030337	Function	DNA polymerase processivity factor activity	IEA
GO:0030855	Process	Epithelial cell differentiation	IEP	21492153
GO:0030894	Component	Replisome	TAS	24115439
GO:0030971	Function	Receptor tyrosine kinase binding	IPI	17115032
GO:0031297	Process	Replication fork processing	IEA
GO:0031297	Process	Replication fork processing	ISS	24115439
GO:0032077	Process	Positive regulation of deoxyribonuclease activity	IDA	19443450
GO:0032139	Function	Dinucleotide insertion or deletion binding	IDA	11005803
GO:0032355	Process	Response to estradiol	IEA
GO:0032405	Function	MutLalpha complex binding	IDA	11005803
GO:0033993	Process	Response to lipid	IEA
GO:0034644	Process	Cellular response to UV	IDA	24939902
GO:0034644	Process	Cellular response to UV	IEA
GO:0035035	Function	Histone acetyltransferase binding	IPI	24939902
GO:0042802	Function	Identical protein binding	IPI	15681588, 15805117, 25416956, 26030842, 31515488, 32296183
GO:0043596	Component	Nuclear replication fork	IDA	15543136, 21383955
GO:0043626	Component	PCNA complex	IBA
GO:0043626	Component	PCNA complex	IDA	24939902
GO:0043626	Component	PCNA complex	IPI	15681588
GO:0044849	Process	Estrous cycle	IEA
GO:0044877	Function	Protein-containing complex binding	IDA	11595739
GO:0045739	Process	Positive regulation of DNA repair	IMP	24939902
GO:0045740	Process	Positive regulation of DNA replication	IMP	24939902
GO:0046686	Process	Response to cadmium ion	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070182	Function	DNA polymerase binding	IPI	19995904, 24939902
GO:0070301	Process	Cellular response to hydrogen peroxide	IEA
GO:0070557	Component	PCNA-p21 complex	IDA	11595739, 18794347
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0071548	Process	Response to dexamethasone	IEA
GO:0097421	Process	Liver regeneration	IEA
GO:1900264	Process	Positive regulation of DNA-directed DNA polymerase activity	IMP	11595739
GO:1902065	Process	Response to L-glutamate	IEA
GO:1902990	Process	Mitotic telomere maintenance via semi-conservative replication	IEA
GO:1902990	Process	Mitotic telomere maintenance via semi-conservative replication	ISS	24115439

Other IDs

• MIM: 176740
• HGNC: 8729
• e!Ensembl: ENSG00000132646

Protein

• UniProt ID: P12004
• Protein name: Proliferating cell nuclear antigen (PCNA) (Cyclin)
• Protein function: Auxiliary protein of DNA polymerase delta and epsilon, is involved in the control of eukaryotic DNA replication by increasing the polymerase's processibility during elongation of the leading strand (PubMed:35585232). Induces a robust stimulatory
• PDB: 1AXC, 1U76, 1U7B, 1UL1, 1VYJ, 1VYM, 1W60, 2ZVK, 2ZVL, 2ZVM, 3JA9, 3P87, 3TBL, 3VKX, 3WGW, 4D2G, 4RJF, 4ZTD, 5E0T, 5E0U, 5E0V, 5IY4, 5MAV, 5MLO, 5MLW, 5MOM, 5YCO, 5YD8, 6CBI, 6EHT, 6FCM, 6FCN, 6GIS, 6GWS, 6HVO, 6K3A, 6QC0, 6QCG, 6S1M, 6S1N, 6S1O, 6TNY, 6TNZ, 6VVO, 7EFA, 7KQ0, 7KQ1, 7M5L, 7M5M, 7M5N, 7NV0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00705	PCNA_N	1 → 125	Proliferating cell nuclear antigen, N-terminal domain	Domain
  PF02747	PCNA_C	127 → 254	Proliferating cell nuclear antigen, C-terminal domain	Domain

• Sequence:

  MFEARLVQGSILKKVLEALKDLINEACWDISSSGVNLQSMDSSHVSLVQLTLRSEGFDTY
  RCDRNLAMGVNLTSMSKILKCAGNEDIITLRAEDNADTLALVFEAPNQEKVSDYEMKLMD
  LDVEQLGIPEQEYSCVVKMPSGEFARICRDLSHIGDAVVISCAKDGVKFSASGELGNGNI
  KLSQTSNVDKEEEAVTIEMNEPVQLTFALRYLNFFTKATPLSSTVTLSMSADVPLVVEYK
  IADMGHLKYYLAPKIEDEEGS

• Sequence length: 261

Pathways

KEGG:

DNA replication
Base excision repair
Nucleotide excision repair
Mismatch repair
Cell cycle
Tight junction
Hepatitis B

Reactome:

Translesion synthesis by REV1
Recognition of DNA damage by PCNA-containing replication complex
Translesion Synthesis by POLH
Transcription of E2F targets under negative control by DREAM complex
Polymerase switching on the C-strand of the telomere
Processive synthesis on the C-strand of the telomere
Telomere C-strand (Lagging Strand) Synthesis
Removal of the Flap Intermediate from the C-strand
SUMOylation of DNA replication proteins
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
PCNA-Dependent Long Patch Base Excision Repair
Translesion synthesis by POLK
Translesion synthesis by POLI
Termination of translesion DNA synthesis
HDR through Homologous Recombination (HRR)
Gap-filling DNA repair synthesis and ligation in GG-NER
Dual Incision in GG-NER
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
Polymerase switching
Removal of the Flap Intermediate
Processive synthesis on the lagging strand
G1/S-Specific Transcription
E3 ubiquitin ligases ubiquitinate target proteins

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
Ataxia-telangiectasia-like disorder 2	Likely pathogenic	rs1274412848	RCV000990278	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATAXIA TELANGIECTASIA LIKE DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA-TELANGIECTASIA-LIKE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ATAXIA	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PCNA-related disorder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acanthosis Nigricans	Acanthosis Nigricans	BEFREE	7689823		★☆☆☆☆ Found in Text Mining only
Acoustic Neuroma	Acoustic Neuroma	BEFREE	12352662, 29309662		★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	10429981		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	22241506		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	1975505		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	30303535		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	12898637, 1351473, 19443706, 31289003, 7729290, 7903667, 7911024, 7913085, 7956574, 8600037, 9159335, 9398993, 9673389		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17525639		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	19028472		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	29037809		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	24742107		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	10375593		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28423618		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	7913085		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	19028472		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	15557791		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	19028472		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	19028472		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	LHGDN	12452045		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	8652744		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12174886, 19866438, 7884588, 9236923, 9607584, 9673389		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	12515622, 16584090		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	10374690, 12174886		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	11592102, 9416697		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	18393131		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	18393131		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	16098628		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	11960356		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	28637687, 29321089		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	8995640		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	8652744		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille syndrome	Pubtator	22684921	Associate	★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	31633027, 34879271	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	9525997	Associate	★☆☆☆☆ Found in Text Mining only
Amaurosis hypertrichosis	Amaurosis hypertrichosis	Pubtator	29322253	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	16113935, 18329695, 21712626, 22842243, 23229269	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	21712626, 31077874		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	9762365	Inhibit	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	28852778, 35231559, 37993492	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	12520353		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	19127042		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	29306020		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	22869556, 31311398		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	8652744		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15723685		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	16565580	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10211880, 11406522	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	26847678	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	29956778	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29983548, 30024335		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	19127042, 7889334, 9522215, 9650754		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	19127042, 8523105, 9155045	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia Like Disorder	Ataxia telangiectasia	Pubtator	36990216, 37511614	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA-TELANGIECTASIA-LIKE DISORDER	Ataxia-Telangiectasia-Like Disorder	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2	Ataxia-Telangiectasia-Like Disorder	ORPHANET_DG	24911150		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2	Ataxia-Telangiectasia-Like Disorder	UNIPROT_DG	24911150		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2	Ataxia-Telangiectasia-Like Disorder	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atherosclerosis	Atherosclerosis	BEFREE	15723685		★☆☆☆☆ Found in Text Mining only
Atypical Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	14648662		★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	BEFREE	25299107		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	7703384		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	14607570, 28853108	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	28120211		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	17607588, 24803527, 26238718, 27776427, 27861750, 27957827, 28677789, 28849123, 28912852, 29393352, 29805520, 29932870, 30015974, 30084935, 31013842, 7833007		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	1351861	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	25740071	Inhibit	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	9440619		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	10403462, 12076694		★☆☆☆☆ Found in Text Mining only
Benign Meningioma	Benign Meningioma	BEFREE	9250918		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	22535643		★☆☆☆☆ Found in Text Mining only
Benign neoplasm of brain, unspecified	Brain Neoplasms	CTD_human_DG	20932960		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	28774334, 29110315, 29862557, 30381617, 30508623, 30708032, 31238046, 31263839		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	9414654		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	8826860	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	12935412, 16284380, 21672358, 28521777, 9712438		★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	8386171	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	12898637		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain neoplasms	Pubtator	1363339, 8523105	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	CTD_human_DG	20932960		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Tumor, Primary	Brain Neoplasms	CTD_human_DG	20932960		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	21284537, 29753773		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10767298, 10934345, 11748377, 12145573, 12963845, 1356517, 15450420, 15802279, 16266993, 16582601, 16761619, 16982462, 18949048, 19287456, 20043069, 20877462, 21385896, 22028643, 22057681, 22699783, 23775012, 25190177, 25193465, 25480843, 26625764, 26810187, 27336726, 27881578, 28489780, 28745792, 28927045, 29243782, 30074214, 30272324, 30662357, 31115482, 31255976, 31289003, 31481582, 31588803, 7577754, 8095051, 8430082, 8497271, 9816285		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast Diseases	LHGDN	17164758		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10646896, 1350788, 16006774, 17159154, 18949048, 19242061, 1972000, 22238610, 22384035, 22548824, 22799305, 23222412, 24205370, 24283290, 25190177, 25733866, 29243782, 31289003, 37481512, 7682759, 8095051, 8430082, 8497271, 9407125, 9645467	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	20152033	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	15778491		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	12455237	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	15754413, 22745723, 24637615, 36068491, 8430082	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10496524, 10621852, 10948324, 11384100, 11788907, 12060626, 12381909, 12508343, 12520353, 1351473, 1360498, 1444241, 16355395, 19108014, 24710624, 29565181, 7884588, 7903289, 7956574, 8774650, 9389786, 9607584, 9872657, 9891436		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	24326646, 26847678	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	30051681	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	12854173	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	11419970, 29633253	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11511787, 12439921, 12632497, 1346735, 14669354, 14716820, 14754512, 15133847, 15754413, 15884108, 17245342, 17724810, 18521065, 19104702, 21410269, 23292006, 27074018, 27343552, 27782152, 28700662, 30178842, 30531861, 30881947, 30930425, 31128017, 31969493, 32082966, 32746792, 33750838, 39346898, 8889391	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	16101161	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	10810331, 37175975	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	12935412, 16284380, 16868689, 21672358, 28521777, 9712438		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10101007, 10219898, 11724293, 1351473, 15743317, 17360482, 21149327, 24012694, 26512878, 29608021, 29940632, 30628638, 31600334, 31607135, 9133454		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	10320143	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32009115, 9624550	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	7904273	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	12854173, 1352943, 21136231, 24061459, 26030731, 27814385, 35024732, 36082904, 7911122	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25013792, 7909306, 7911024	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	24304017, 9179692, 9477184, 9712438	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	12652194, 28329421		★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	19028472		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	29633253		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	19028472		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	12649182, 20724919, 28406716, 31128028, 8797862		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	29565181		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	12354434	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	30690853		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	12455237	Associate	★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	BEFREE	31552187, 31842965		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	16896921, 31424957		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	22763828	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	30048883		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	15073118, 16681749, 19319956, 28963664, 28993931, 29963176, 30784916, 8774650		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	15073118, 17457043, 8751330		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	15073118, 16681749, 28963664, 28993931, 29963176, 30784916, 7718254, 9784316		★☆☆☆☆ Found in Text Mining only
Cherubism	Cherubism	BEFREE	12787044		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	29956778		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	28637687, 29321089		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31077409		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	15370560, 9550442		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	18347258, 24311896	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22740450, 7731942, 8106065		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	7981137		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29037809		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	8675143, 9097264		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	10536158	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15548520, 21900746, 24063790, 25216407, 9610028, 9673389		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	17569127	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	19028472, 19723570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10374690, 10664332, 14669354, 15334693, 15526363, 15870867, 17457043, 25917796, 27207660, 27423313, 28177944, 29353348, 29802196, 30119635, 30410539, 30484108, 30558098, 31118667, 31133374, 8095852, 8608572, 9762888		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10777845, 12854146, 14669354, 16437675, 17592558, 19550124, 19661314, 22824771, 29794421, 32885893, 33142138, 36037145, 36820595, 37316878, 37324189, 37347740, 8556950, 9149129, 9434128	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	14669354		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	30472235		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	8839889, 9802343		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	28779709		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	30260286, 31734580		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	7745970		★☆☆☆☆ Found in Text Mining only
Conjunctival telangiectasis	Conjunctival Telangiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11369057, 11957150, 12796377, 22155254, 22810054, 27035563, 27779645, 29033184, 29187877, 30644098, 7731937, 8821696		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	18635600		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	18366613	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	7864299		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	30639531		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28367081, 30144066		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28927045		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27624574	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28177944		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30478982	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	22763828	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23707792, 28413186, 29078040, 31691259		★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	19325208	Stimulate	★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	19680198	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	BEFREE	19127042		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	11960356, 12672009		★☆☆☆☆ Found in Text Mining only
DNA Ligase I Deficiency	DNA Ligase I Deficiency	BEFREE	20010813		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	15475449		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	15475449, 7908995, 9236923		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	14648662		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	9159335		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	10682682, 11920468, 12525874, 12845634, 14648662, 15048079, 24035998, 29232554, 8909315		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	11419970, 11920468, 17106521	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	17106521		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	18353325, 29962266, 30119243		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	32112646	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	31788082		★☆☆☆☆ Found in Text Mining only
Epilepsy Partial with Variable Foci	Progressive myoclonic epilepsy	Pubtator	23439433	Associate	★☆☆☆☆ Found in Text Mining only
Epithelioid and spindle cell nevus	Spitz nevus	BEFREE	8105711		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	9133447, 9852302		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	12508343, 15286661, 24710624, 30155836, 30940778, 31743132		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	12508343, 15286661, 24710624, 30940778, 31743132		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	15991276, 22134872, 22938416, 28348485	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	11570573, 1351861	Associate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	12854173, 32885893	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	29425745		★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	31424957		★☆☆☆☆ Found in Text Mining only
Failure of Tooth Eruption, Primary	Failure Of Tooth Eruption	BEFREE	28774334		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	18448394, 20675655, 28490629, 30422114, 31639439		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	20937699	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	18448394, 20675655, 28490629, 30422114, 31639439		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP D2	Fanconi Anemia	BEFREE	15661754, 24001775		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	30786689	Associate	★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	7903289		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	LHGDN	15536154, 15572421, 18853184		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	16294022, 9290461		★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	19130399		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	17121042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	29220669		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	7884588		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	28852778, 35231559, 37993492	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	19866438		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	15832413	Associate	★☆☆☆☆ Found in Text Mining only
Ganglioneuroblastoma	Ganglioneuroblastoma	BEFREE	29794872		★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	29794872		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	24992958		★☆☆☆☆ Found in Text Mining only
Gastric lymphoma	Gastric lymphoma	BEFREE	12672009		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	10623670, 11153608, 16830287	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	25740071	Stimulate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	16489674, 17230613	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	20043176, 25239601		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	11358847, 7915335		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	12508343		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	12640100		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Tendon Sheath	Giant cell tumor of tendon sheath	Pubtator	11081840	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	10645226	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12898637, 19127042, 20613874, 28842551, 29073105, 29510343, 30834619, 7889334		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	12898637, 19127042, 20613874, 28842551, 29073105, 29510343, 30834619		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	10848585, 19127042, 32885893, 33557829	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	20613874, 25227852, 25362936, 25688509, 26343305, 26722455, 28498444, 28562655, 29073105, 29510343, 29993291, 30210702, 31799673		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	22905804, 30225541	Stimulate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	20403044		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	15208647	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	11471036	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	36374911	Stimulate	★☆☆☆☆ Found in Text Mining only
GLOMUVENOUS MALFORMATIONS	Glomuvenous Malformation	BEFREE	22405651		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	11422195	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	8765976		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	24911150	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	8765976		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	7517683		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	24911150	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	23298485, 28339093, 28529555, 29268640		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	9090958		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	9090958		★☆☆☆☆ Found in Text Mining only
Hematuria, Benign Familial	Hematuria	BEFREE	12652194		★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic encephalopathy	Pubtator	24346482	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	9602695	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	12164086, 16542372	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	12632497	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	16542372	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	30786689	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Chronic	Hepatitis	Pubtator	12632497	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	CTD_human_DG	11560253		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Hepatoblastoma	BEFREE	20803149		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	30394935	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	11811509		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	28963499		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	22086303		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	26951238		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	10690394, 15389259, 8100573	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	12672009, 1981239, 7731942, 7833007, 8916968		★☆☆☆☆ Found in Text Mining only
Holt-Oram syndrome	Holt-Oram Syndrome	BEFREE	22849560		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	12853570		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	12853570	Associate	★☆☆☆☆ Found in Text Mining only
Hyalinosis, Segmental Glomerular	Glomerular Hyalinosis	CTD_human_DG	17121042		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	11737472	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28345659, 29179437		★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	BEFREE	7745970		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	24941889		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis Epidermolytic	Epidermolytic hyperkeratosis	Pubtator	7904405	Associate	★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	12936910	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	29982796		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	8781414	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28630478		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	28471544		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34942165	Stimulate	★☆☆☆☆ Found in Text Mining only
Ichthyosis Vulgaris	Ichthyosis vulgaris	Pubtator	7904405	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	12242524, 31145635		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	1681731		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	32112646	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	11153608	Inhibit	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	24151393	Stimulate	★☆☆☆☆ Found in Text Mining only
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	BEFREE	22634751, 24098681, 25262539		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	28927045, 7908995		★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	8927618		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	10519412, 10645225, 10662620, 10914556, 11238594, 11719447, 20331971, 20333249, 30811506, 9414174, 9882349		★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	28512636		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	11471036, 15208647	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31801948		★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	18449109	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	27222061, 27470679, 28566468		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	30819726	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	23317197	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	12740649		★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	8601525		★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	29322253	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	10426571, 16294022, 34323413, 34942165, 36771423, 9654192	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	9654192	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10797445, 1350226	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	21135258, 28719347, 29753773		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	11090075	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10797445, 1975505, 28498449, 30832756	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24615181	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27323399, 27759041, 28498449, 28951561		★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	8570655		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	8601525		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	30019708		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	12632080, 23434055		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12949053, 15205570, 17245342, 18214716, 18350604, 19101699, 19399937, 19491661, 20305690, 21310960, 21410269, 22434528, 23172669, 23172681, 23292006, 23499292, 23613111, 24297035, 24704293, 26082485, 28292020, 28498444, 28876084, 29298655, 29445190, 29894725, 30182439, 30405792, 30817182, 30881947, 30930425, 31128017, 31410212, 31733149, 7513246, 7927250, 8102592, 8104947, 8675143, 9097264		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	14642618, 15754413, 17982625, 18521065		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	12632497, 1346735	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	17245342, 31368578, 8675143, 9097264		★☆☆☆☆ Found in Text Mining only
Liver cyst	Liver Cyst	BEFREE	23617956		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	12632497	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	26082485, 7927250, 9446792		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	9577372	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	10777845	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	15967114, 9624550	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	8780388	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	10942532, 29940632, 31595832, 7911024		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	11884234		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	15967114		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	15967114, 24012694, 29940632, 32596300, 35501353, 7547229, 7911024, 7913734	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus	Lupus Erythematosus	BEFREE	1695666		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	16542372, 2571644	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	1695666		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	1695666, 21789880, 24836587, 28553742		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	15717643	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	26791485		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	1695666		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	10862203, 12532471, 16124066, 17380020, 19661314	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23934455, 31128028	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	28927045, 29803172		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	1358164, 16450771, 7907607	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	20062012		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	24660851	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	24660851		★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	17607588		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	17607588, 9590148		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	17607588, 9590148		★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	22086303		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	8536140	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	11559537, 21843312		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	7517683		★☆☆☆☆ Found in Text Mining only
Malignant Meningioma	Malignant Meningioma	BEFREE	9250918		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	CTD_human_DG	20932960		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10767298, 11748377, 12100739, 12145573, 12963845, 1356517, 15802279, 16266993, 16582601, 16761619, 16982462, 18949048, 19287456, 20043069, 20877462, 21385896, 22028643, 22057681, 22699783, 23775012, 25190177, 25193465, 25480843, 26625764, 26810187, 27336726, 27881578, 28489780, 28745792, 28927045, 29243782, 30074214, 30272324, 30662357, 31115482, 31255976, 31289003, 31481582, 31588803, 7908995, 8095051, 8430082, 8497271, 9816285		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	15048079, 29232554		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	12508343, 15286661, 24710624, 30940778, 31743132, 7664900		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	30819726		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	20514460, 24972653, 27782152		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10101007, 11724293, 1351473, 17360482, 21149327, 22923130, 24012694, 26512878, 29608021, 29940632, 30628638, 31600334, 31607135, 9133454		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	11884234		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	12632080, 23434055		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	16116079, 28406716, 31128028, 8797862		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16552335, 17363575, 25017645, 27840954, 28440486		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16461912, 17178887, 17533368, 21925791, 25253786, 28038443, 28193499, 28213961, 29545934, 30875788, 8603399, 9626793		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	22217391		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11456052, 12632490, 15609395, 15765400, 18305181, 1981239, 21567388, 28138255, 28498444, 28611525, 31007778, 31298327, 31686906, 7772926, 7910957, 7981055, 8691838		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	25592304, 28454416		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	12935412, 16284380, 21672358, 28521777, 9712438		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10526289, 10799331, 10840938, 10873097, 11795432, 11846001, 11960696, 12032232, 12174886, 12362273, 12508343, 12820390, 12935412, 15191351, 15308260, 15882169, 16552186, 16969111, 17178890, 17300833, 17942908, 19442257, 19942610, 20849852, 20877462, 21385896, 21689861, 21734724, 21769918, 22096502, 22161326, 22523546, 22556262, 23135747, 23164239, 23735075, 24012694, 24035998, 24429254, 25253786, 25492485, 25577248, 25825764, 25860620, 26087920, 26732650, 26813358, 27399331, 27606879, 27991692, 28110190, 28138255, 28454104, 28475635, 28498444, 28574830, 28881649, 28888575, 29218622, 29491094, 29510343, 29590477, 29630113, 29875773, 29967249, 30194068, 30384810, 30431123, 30759820, 31001891, 31164357, 31628323, 31679311, 31830411, 7517683, 7919730, 7981055, 8608572, 9030252, 9090958, 9467944, 9578081, 9891436		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	23321323		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	15073118, 16681749, 28963664, 28993931, 29963176, 30784916		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15548520, 21900746, 24063790, 25216407, 9610028		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	19028472, 19723570		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12088102		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21385896, 28544934, 7903289, 9131589		★☆☆☆☆ Found in Text Mining only
Mandibulofacial Dysostosis	Mandibulofacial Dysostosis	BEFREE	28910587		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	17022831, 24429254		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	15375710		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	8546897		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	27610696, 7911734		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	21298772, 28637687, 29321089		★☆☆☆☆ Found in Text Mining only
Megaesophagus	Megaesophagus	BEFREE	10757119		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	8105711, 8786206		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11602203, 17218782, 21649464, 21659462, 24289491, 24495407, 29494356, 7858412, 7864299, 7903955, 8105711, 9036865		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	15638382, 18256758, 18481002		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24850177	Inhibit	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	24850177	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	15330178, 16634530, 18379871, 20150366, 7623949	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	20054806, 20150366, 8897517		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28927045		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	17872495		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	32885893	Associate	★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	BEFREE	8631582		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	32329847	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	15000866, 15755896, 17022831, 17996585, 18559525, 19151776, 21135258, 31115482		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	15000866		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	15000866, 22350072, 35536760, 35563109	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	18604718		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	18604718		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	17070905, 17094012, 26985855, 31646577, 7981137		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	7839469		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	23634930		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28643114		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	40587682	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	22763828	Inhibit	★☆☆☆☆ Found in Text Mining only
Myxoma of the Endocardium	Myxoma Of The Endocardium	BEFREE	10085277		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	22560505		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	11053650, 17156515, 29067440, 29367693, 30844723		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	28429677, 29367693	Associate	★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	9128950		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	29502797, 31365937		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10101007, 10406262, 10506718, 10525938, 10613309, 10769714, 10840938, 10873769, 10891556, 10951360, 11020241, 11057756, 11081192, 11089881, 11102893, 11186427, 11268451, 11355304, 11369057, 11445874, 11504910, 11562741, 11723744, 11846729, 11911243, 11961668, 12101420, 12362273, 12439921, 12469176, 12520353, 12606950, 12615717, 12712404, 12740649, 12820433, 12845634, 12847548, 12898637, 12940778, 1351473, 1361306, 13679459, 14508832, 14597346, 14684736, 14976529, 15203749, 15375710, 15389561, 15475449, 15743317, 16357510, 16585865, 16645325, 16761619, 1676611, 1680785, 16868689, 16938810, 17245342, 17352261, 17626791, 18240019, 18381935, 18393131, 18447716, 18550246, 18559525, 19064947, 19101699, 19696689, 19737940, 1981239, 19887899, 20004133, 20062012, 20333249, 20530440, 20596657, 20624954, 20665661, 20679253, 20729132, 21247411, 21385896, 21712626, 21769918, 22322893, 22349830, 22382313, 22540890, 22581233, 22593003, 22674854, 22743617, 22836062, 22967707, 23230963, 23298478, 23300567, 23317197, 23633152, 23634930, 23705792, 23718763, 23792637, 24206208, 24584933, 24694877, 24704293, 24924635, 25197632, 25253786, 25304375, 25342140, 25362936, 25872657, 25875800, 25942479, 26082485, 26087920, 26184135, 26215403, 26341922, 26345456, 27012679, 27020242, 27151584, 27167340, 27629775, 27776427, 27821477, 28123567, 28259903, 28260916, 28284729, 28358412, 28562655, 28599421, 28617188, 28747012, 28861107, 28876084, 28927045, 28963499, 28977928, 29022909, 29051491, 29108234, 29158830, 29328485, 29331723, 29331760, 29659181, 29756310, 29803172, 29848673, 29875773, 29940632, 29967249, 30012504, 30105234, 30119635, 30181387, 30268558, 30425578, 30483132, 30484108, 30537980, 30626462, 30628638, 30661182, 30693913, 30738018, 30816471, 30875788, 31013842, 31081060, 31102265, 31115482, 31143704, 31262254, 31280432, 31530543, 31563120, 31571907, 31637008, 31686915, 6203111, 7513246, 7517683, 7571041, 7600546, 7623238, 7729290, 7745970, 7850709, 7864299, 7893977, 7903289, 7904813, 7908818, 7910957, 7911024, 7915093, 7915335, 8093685, 8095852, 8104388, 8430082, 8494905, 8552572, 8600037, 8600793, 8666365, 8694553, 8698311, 8710382, 8750062, 8821696, 8826947, 8859190, 8881917, 8909315, 9066620, 9099968, 9128950, 9133454, 9159335, 9187909, 9253035, 9416697, 9467944, 9526736, 9568083, 9578081, 9584899, 9590148, 9637342, 9712438, 9766653, 9813719, 9870149		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	CTD_human_DG	20932960		★☆☆☆☆ Found in Text Mining only
Nephritis Interstitial	Interstitial nephritis	Pubtator	15717643	Associate	★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	15526363, 28845162		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11705866, 12469176, 16034747, 18525316, 25190177, 26844271, 29794872, 8093685, 9099968, 9348340		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25190177, 26844271, 27866306, 8093685, 9006330, 9348340	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	24911150, 27624574, 36990216, 37511614	Associate	★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	8786206		★☆☆☆☆ Found in Text Mining only
Nevus, Blue	Blue Nevus	BEFREE	7903955		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10373663, 10769714, 11724293, 12101420, 12237873, 1361306, 16101161, 16195237, 18715616, 23918304, 24205245, 28259903, 28521488, 29108234, 29630113, 29803172, 30319288		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28915506		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	25621687	Stimulate	★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	19191023, 28418845		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	20062078		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32633338	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29481872		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30342851		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24565852, 25109282, 25378143, 25530340, 27221371, 27706618, 28519068, 29019895, 30456894, 30582213, 30655843, 30861164, 31552187, 8750062		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33797312	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36031605, 37118828, 7534293, 8750062	Associate	★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	30188470		★☆☆☆☆ Found in Text Mining only
Ovarian adenocarcinoma	Ovarian adenocarcinoma	BEFREE	15557791		★☆☆☆☆ Found in Text Mining only
Ovarian Granulosa Cell Tumor	Ovarian Tumor	BEFREE	12940778		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28406716, 31128028, 8797862		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10320143, 15028555, 27806724, 29633253, 31128028, 7841053, 9266754	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16552335, 17363575, 25017645, 27840954, 28440486		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	22869556		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	12532471, 16124066, 16552335		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	12532471, 16124066, 25017645	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	22535643, 28499365, 29306020, 7908818, 8881917		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	11197119		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	11846729		★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	16355395		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	16619538	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25184665, 26677001, 27665784		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	25675097	Associate	★☆☆☆☆ Found in Text Mining only
PCNA-related progressive neurodegenerative photosensitivity syndrome	Neurodegenerative Photosensitivity Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	24528298		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	17589931	Associate	★☆☆☆☆ Found in Text Mining only
Persistent Hyperplastic Primary Vitreous	Persistent Hyperplastic Primary Vitreous	BEFREE	31462148		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	8965095		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	19127042		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	16584090, 24636138	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	LHGDN	18072009		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	23404407	Stimulate	★☆☆☆☆ Found in Text Mining only
POLYCYSTIC KIDNEY DISEASE 1	Polycystic kidney disease	BEFREE	7896286		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	7896286		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	23617956, 7703384		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	15820804	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	25646509, 30293818		★☆☆☆☆ Found in Text Mining only
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE	Bartsocas-Papas syndrome	BEFREE	30654004		★☆☆☆☆ Found in Text Mining only
Poroma	Poroma	BEFREE	8599450		★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	16698584		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	30303535		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	23857984		★☆☆☆☆ Found in Text Mining only
Primary malignant neoplasm of brain	Brain Neoplasms	CTD_human_DG	20932960		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	LHGDN	16201313		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	22967707		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	17846353		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	1360498, 16461912, 17178887, 17533368, 21925791, 25253786, 28038443, 28193499, 28213961, 29545934, 30875788, 8603399, 9626793		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic Hyperplasia	BEFREE	29110315, 30381617, 30508623		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	33148606	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18312749		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	19266349		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21031434, 21867506, 30864712, 32885893, 33218199, 33522043, 9615190	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	CTD_human_DG	10384915		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	2571644	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	29115643, 30058806, 31384318		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	7904405	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pterygium	Pterygium	BEFREE	11368097		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25058453	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	28537664	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	28552795		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	8579879		★☆☆☆☆ Found in Text Mining only
Pustulosis of Palms and Soles	Palmoplantar Pustules	CTD_human_DG	10384915		★☆☆☆☆ Found in Text Mining only
Recurrent Brain Neoplasm	Brain Neoplasms	CTD_human_DG	20932960		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	30819726		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11369057, 11957150, 12796377, 22155254, 22810054, 27035563, 27779645, 29033184, 30644098, 7731937, 8821696		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	10665922, 12352662, 12615717, 15203749, 16012758, 16272168, 16613540, 16908528, 19636513, 20720195, 23974512, 27610696, 27642049, 29221753		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	32329827	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	21092078	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	12845634		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11406522, 9214430		★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	24065356, 25262539		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	10810331, 15287541, 26247885	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	BEFREE	7977956		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	20186824, 35689249	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	8644845, 9403703		★☆☆☆☆ Found in Text Mining only
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	1357005	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	16207328	Associate	★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	10739703		★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	25746199		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	11555398	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	20496072	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	10429981, 12928526, 20496072, 30058806		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	31571864		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	35132330	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	20421925, 29845250		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	10219898, 29845250, 7797603	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10344760, 10525938, 10621852, 10778945, 11355167, 16357510, 25013792, 28329421, 28661481, 29115643, 31257482, 31672124, 7517683, 7594756, 8600793, 8635051, 8679155, 9790097, 9813719		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18256758, 18509272		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	10406262, 11570573, 12508343, 31629712		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19680198	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20881335, 23317197, 26152289, 31210306, 31672124, 9313825, 9422082	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	31239782		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28102297, 30871913, 9313825		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10508488, 12632490, 15609395, 18305181, 18629780, 1981239, 21567388, 28138255, 28611525, 31007778, 31298327, 31686906, 7772926, 7910957, 8691838		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	15962383	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	10679740, 11932915, 12439914, 15052671, 17380020, 17589931, 18629780, 23058008, 23755751, 23934455, 24151393, 24375258, 24441189, 24712400, 24956340, 27583849, 28611525, 29808160, 30821221, 31298327, 36203485, 7537520, 7543771, 7903667, 7908217, 7911025, 7915118, 7981055	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	12452062		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	9584899		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	11081840	Associate	★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	20501863, 8707954, 8854073, 8859190, 9614448, 9712438		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	32885893	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	7981137		★☆☆☆☆ Found in Text Mining only
Thymic Carcinoma	Thymic Carcinoma	BEFREE	9852302		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	9852302		★☆☆☆☆ Found in Text Mining only
Thymus Neoplasms	Thymus Neoplasms	BEFREE	9852302		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	18470905, 8881917	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	25592304, 28454416, 8546897, 9626345		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	7884588		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	25592304, 28454416, 8546897, 8881917		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	12471003, 22350610, 37864896, 8546897	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	8854073, 9187909		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28075450	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30181387		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	11758789		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	LHGDN	12893285		★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	BEFREE	23634930		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	8888274		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	8546897		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	1353364, 19846907, 26987391, 29532898, 32885893, 34861846, 36232303, 38280406, 8749948, 9179692, 9477184	Associate	★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic neoplasm	Pubtator	36082904	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	15161643		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	24061459, 35379200	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	7909306	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	LHGDN	15033825		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	16681749, 16838056, 17466038, 19389243, 24061459, 24403257, 25921283, 28963664, 29427865, 31337953, 32885893, 33302814, 36694148	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28682441	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	25144715	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	16294022, 29082249, 9290461		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	30107825	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	8664054		★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	14502140	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	20062078		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	10608841, 12633936		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	20600238	Associate	★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	LHGDN	15543136		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	16284380, 25435364, 29931256		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum Complementation Group B	Xeroderma pigmentosum	Pubtator	10536158	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	BEFREE	16195237		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group A	Xeroderma Pigmentosum	BEFREE	8814338		★☆☆☆☆ Found in Text Mining only