CD28 (CD28 molecule)

Gene

• Entrez ID: 940
• Gene name: CD28 molecule
• Gene symbol: CD28
• Synonyms (NCBI Gene): IMD123, Tp44
• Chromosome: 2
• Chromosome location: 2q33.2
• Summary: The protein encoded by this gene is essential for T-cell proliferation and survival, cytokine production, and T-helper type-2 development. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provide

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029645	hsa-miR-26b-5p	Microarray	19088304
MIRT438542	hsa-miR-145-5p	Luciferase reporter assay	24043548
MIRT438542	hsa-miR-145-5p	Luciferase reporter assay	24043548
MIRT684938	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT684937	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT684936	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT684935	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT684934	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT684933	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT684932	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT684931	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT684930	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT684929	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT684928	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT684927	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT684926	hsa-miR-302e	HITS-CLIP	23313552
MIRT684925	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT684924	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT684923	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT684922	hsa-miR-520b	HITS-CLIP	23313552
MIRT684921	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT684920	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT684919	hsa-miR-520e	HITS-CLIP	23313552
MIRT684918	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT684917	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT684916	hsa-miR-520h	HITS-CLIP	23313552
MIRT684915	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT684914	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT684913	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT684912	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT684910	hsa-miR-4252	HITS-CLIP	23313552
MIRT684911	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT684909	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT684908	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT684907	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT620147	hsa-miR-5586-3p	HITS-CLIP	23824327
MIRT669127	hsa-miR-6753-3p	HITS-CLIP	23824327
MIRT669126	hsa-miR-7107-3p	HITS-CLIP	23824327
MIRT620146	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT620145	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT659689	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT659688	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT659687	hsa-miR-4287	HITS-CLIP	23824327
MIRT659686	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT659685	hsa-miR-2467-5p	HITS-CLIP	23824327
MIRT659684	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT659683	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT620146	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT620145	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT620147	hsa-miR-5586-3p	HITS-CLIP	23824327
MIRT620146	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT620145	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT620147	hsa-miR-5586-3p	HITS-CLIP	23824327
MIRT620146	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT620145	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT620145	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT620145	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT620145	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT620145	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT669127	hsa-miR-6753-3p	HITS-CLIP	27418678
MIRT620146	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT620146	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT620146	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT620146	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT669126	hsa-miR-7107-3p	HITS-CLIP	27418678
MIRT684938	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT684937	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT684936	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT684935	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT684934	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT684933	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT684932	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT684931	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT684930	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT684929	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT684928	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT684927	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT684926	hsa-miR-302e	HITS-CLIP	23313552
MIRT684925	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT684924	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT684923	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT684922	hsa-miR-520b	HITS-CLIP	23313552
MIRT684921	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT684920	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT684919	hsa-miR-520e	HITS-CLIP	23313552
MIRT684918	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT684917	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT684916	hsa-miR-520h	HITS-CLIP	23313552
MIRT684915	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT684914	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT684913	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT684912	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT684910	hsa-miR-4252	HITS-CLIP	23313552
MIRT684911	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT684909	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT684908	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT684907	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT620147	hsa-miR-5586-3p	HITS-CLIP	23824327
MIRT669127	hsa-miR-6753-3p	HITS-CLIP	23824327
MIRT669126	hsa-miR-7107-3p	HITS-CLIP	23824327
MIRT620146	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT620145	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT659689	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT659688	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT659687	hsa-miR-4287	HITS-CLIP	23824327
MIRT659686	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT659685	hsa-miR-2467-5p	HITS-CLIP	23824327
MIRT659684	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT659683	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT620146	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT620145	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT620147	hsa-miR-5586-3p	HITS-CLIP	23824327
MIRT620146	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT620145	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT620147	hsa-miR-5586-3p	HITS-CLIP	23824327
MIRT620146	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT620145	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT874585	hsa-miR-106a	CLIP-seq
MIRT874586	hsa-miR-106b	CLIP-seq
MIRT874587	hsa-miR-1224-3p	CLIP-seq
MIRT874588	hsa-miR-1234	CLIP-seq
MIRT874589	hsa-miR-1245	CLIP-seq
MIRT874590	hsa-miR-1273e	CLIP-seq
MIRT874591	hsa-miR-1273f	CLIP-seq
MIRT874592	hsa-miR-1289	CLIP-seq
MIRT874593	hsa-miR-1305	CLIP-seq
MIRT874594	hsa-miR-143	CLIP-seq
MIRT874595	hsa-miR-150	CLIP-seq
MIRT874596	hsa-miR-17	CLIP-seq
MIRT874597	hsa-miR-185	CLIP-seq
MIRT874598	hsa-miR-1913	CLIP-seq
MIRT874599	hsa-miR-20a	CLIP-seq
MIRT874600	hsa-miR-20b	CLIP-seq
MIRT874601	hsa-miR-302a	CLIP-seq
MIRT874602	hsa-miR-302b	CLIP-seq
MIRT874603	hsa-miR-302c	CLIP-seq
MIRT874604	hsa-miR-302d	CLIP-seq
MIRT874605	hsa-miR-3135b	CLIP-seq
MIRT874606	hsa-miR-3136-5p	CLIP-seq
MIRT874607	hsa-miR-3198	CLIP-seq
MIRT874608	hsa-miR-324-3p	CLIP-seq
MIRT874609	hsa-miR-3652	CLIP-seq
MIRT874610	hsa-miR-3664-5p	CLIP-seq
MIRT874611	hsa-miR-3671	CLIP-seq
MIRT874612	hsa-miR-3691-3p	CLIP-seq
MIRT874613	hsa-miR-372	CLIP-seq
MIRT874614	hsa-miR-373	CLIP-seq
MIRT874615	hsa-miR-3925-3p	CLIP-seq
MIRT874616	hsa-miR-3944-5p	CLIP-seq
MIRT874617	hsa-miR-4267	CLIP-seq
MIRT874618	hsa-miR-4294	CLIP-seq
MIRT874619	hsa-miR-4306	CLIP-seq
MIRT874620	hsa-miR-4309	CLIP-seq
MIRT874621	hsa-miR-4430	CLIP-seq
MIRT874622	hsa-miR-4439	CLIP-seq
MIRT874623	hsa-miR-4513	CLIP-seq
MIRT874624	hsa-miR-4534	CLIP-seq
MIRT874625	hsa-miR-4639-3p	CLIP-seq
MIRT874626	hsa-miR-4644	CLIP-seq
MIRT874627	hsa-miR-4695-3p	CLIP-seq
MIRT874628	hsa-miR-4708-5p	CLIP-seq
MIRT874629	hsa-miR-4770	CLIP-seq
MIRT874630	hsa-miR-513c	CLIP-seq
MIRT874631	hsa-miR-514b-5p	CLIP-seq
MIRT874632	hsa-miR-519d	CLIP-seq
MIRT874633	hsa-miR-520g	CLIP-seq
MIRT874634	hsa-miR-576-3p	CLIP-seq
MIRT874635	hsa-miR-607	CLIP-seq
MIRT874636	hsa-miR-616	CLIP-seq
MIRT874637	hsa-miR-766	CLIP-seq
MIRT874638	hsa-miR-93	CLIP-seq
MIRT874639	hsa-miR-943	CLIP-seq
MIRT1959284	hsa-miR-27a	CLIP-seq
MIRT1959285	hsa-miR-27b	CLIP-seq
MIRT1959286	hsa-miR-4659a-3p	CLIP-seq
MIRT1959287	hsa-miR-4659b-3p	CLIP-seq
MIRT1959288	hsa-miR-4753-3p	CLIP-seq
MIRT1959289	hsa-miR-498	CLIP-seq
MIRT1959290	hsa-miR-513a-5p	CLIP-seq
MIRT874591	hsa-miR-1273f	CLIP-seq
MIRT2196312	hsa-miR-1278	CLIP-seq
MIRT874592	hsa-miR-1289	CLIP-seq
MIRT874594	hsa-miR-143	CLIP-seq
MIRT2196313	hsa-miR-155	CLIP-seq
MIRT874597	hsa-miR-185	CLIP-seq
MIRT2196314	hsa-miR-219-5p	CLIP-seq
MIRT874605	hsa-miR-3135b	CLIP-seq
MIRT874607	hsa-miR-3198	CLIP-seq
MIRT874609	hsa-miR-3652	CLIP-seq
MIRT874610	hsa-miR-3664-5p	CLIP-seq
MIRT874618	hsa-miR-4294	CLIP-seq
MIRT874619	hsa-miR-4306	CLIP-seq
MIRT874620	hsa-miR-4309	CLIP-seq
MIRT874621	hsa-miR-4430	CLIP-seq
MIRT874624	hsa-miR-4534	CLIP-seq
MIRT874625	hsa-miR-4639-3p	CLIP-seq
MIRT874626	hsa-miR-4644	CLIP-seq
MIRT874628	hsa-miR-4708-5p	CLIP-seq
MIRT874629	hsa-miR-4770	CLIP-seq
MIRT2196315	hsa-miR-4782-3p	CLIP-seq
MIRT2196316	hsa-miR-4794	CLIP-seq
MIRT1959289	hsa-miR-498	CLIP-seq
MIRT2385729	hsa-miR-1270	CLIP-seq
MIRT874591	hsa-miR-1273f	CLIP-seq
MIRT874605	hsa-miR-3135b	CLIP-seq
MIRT874609	hsa-miR-3652	CLIP-seq
MIRT874621	hsa-miR-4430	CLIP-seq
MIRT2385730	hsa-miR-4683	CLIP-seq
MIRT2385731	hsa-miR-4743	CLIP-seq
MIRT2385732	hsa-miR-620	CLIP-seq
MIRT1959289	hsa-miR-498	CLIP-seq
MIRT2446560	hsa-miR-577	CLIP-seq
MIRT874585	hsa-miR-106a	CLIP-seq
MIRT874586	hsa-miR-106b	CLIP-seq
MIRT874587	hsa-miR-1224-3p	CLIP-seq
MIRT874588	hsa-miR-1234	CLIP-seq
MIRT874589	hsa-miR-1245	CLIP-seq
MIRT874595	hsa-miR-150	CLIP-seq
MIRT874596	hsa-miR-17	CLIP-seq
MIRT874598	hsa-miR-1913	CLIP-seq
MIRT874599	hsa-miR-20a	CLIP-seq
MIRT874600	hsa-miR-20b	CLIP-seq
MIRT874601	hsa-miR-302a	CLIP-seq
MIRT874602	hsa-miR-302b	CLIP-seq
MIRT874603	hsa-miR-302c	CLIP-seq
MIRT874604	hsa-miR-302d	CLIP-seq
MIRT874608	hsa-miR-324-3p	CLIP-seq
MIRT874613	hsa-miR-372	CLIP-seq
MIRT874614	hsa-miR-373	CLIP-seq
MIRT874627	hsa-miR-4695-3p	CLIP-seq
MIRT874630	hsa-miR-513c	CLIP-seq
MIRT874631	hsa-miR-514b-5p	CLIP-seq
MIRT874632	hsa-miR-519d	CLIP-seq
MIRT874633	hsa-miR-520g	CLIP-seq
MIRT874638	hsa-miR-93	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EGR1	Unknown	10510368
NFKB1	Unknown	16365455
RELA	Unknown	16365455
SP1	Unknown	10510368

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001772	Component	Immunological synapse	IEA
GO:0001819	Process	Positive regulation of cytokine production	TAS	8717514
GO:0002376	Process	Immune system process	IEA
GO:0002863	Process	Positive regulation of inflammatory response to antigenic stimulus	IEA
GO:0005515	Function	Protein binding	IPI	7568038, 7584133, 7807015, 8146197, 8183372, 9417079, 9784967, 10820259, 11285224, 15067037, 15554700, 18641334, 21931534
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	11390434
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9784967
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006955	Process	Immune response	IEA
GO:0006959	Process	Humoral immune response	TAS	8717514
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	9784967
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IDA	11390434
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	IDA	15067037
GO:0009986	Component	Cell surface	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	23817958
GO:0010629	Process	Negative regulation of gene expression	IMP	23817958
GO:0015026	Function	Coreceptor activity	TAS	9784967
GO:0016020	Component	Membrane	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0031295	Process	T cell costimulation	IBA
GO:0031295	Process	T cell costimulation	IDA	8484124
GO:0031295	Process	T cell costimulation	IEA
GO:0031295	Process	T cell costimulation	TAS	8617933
GO:0032733	Process	Positive regulation of interleukin-10 production	IDA	8617933
GO:0032743	Process	Positive regulation of interleukin-2 production	IDA	3875683
GO:0032743	Process	Positive regulation of interleukin-2 production	IEA
GO:0032753	Process	Positive regulation of interleukin-4 production	IDA	8617933
GO:0035739	Process	CD4-positive, alpha-beta T cell proliferation	IEA
GO:0042098	Process	T cell proliferation	IEA
GO:0042102	Process	Positive regulation of T cell proliferation	IBA
GO:0042102	Process	Positive regulation of T cell proliferation	IDA	3159820, 8617933
GO:0042102	Process	Positive regulation of T cell proliferation	IEA
GO:0042102	Process	Positive regulation of T cell proliferation	TAS	9784967
GO:0042110	Process	T cell activation	IBA
GO:0042110	Process	T cell activation	IDA	7568038, 7737275
GO:0042110	Process	T cell activation	IDA	23918985
GO:0042110	Process	T cell activation	IGI	18337562
GO:0042129	Process	Regulation of T cell proliferation	IEA
GO:0042802	Function	Identical protein binding	NAS	3159820
GO:0043066	Process	Negative regulation of apoptotic process	TAS	8717514
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0045060	Process	Negative thymic T cell selection	IEA
GO:0045066	Process	Regulatory T cell differentiation	IDA	18641304
GO:0045070	Process	Positive regulation of viral genome replication	NAS	7492435
GO:0045589	Process	Regulation of regulatory T cell differentiation	IEA
GO:0045727	Process	Positive regulation of translation	NAS	12028592
GO:0045840	Process	Positive regulation of mitotic nuclear division	IDA	3159820
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048304	Process	Positive regulation of isotype switching to IgG isotypes	IEA
GO:0050852	Process	T cell receptor signaling pathway	IBA
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0050870	Process	Positive regulation of T cell activation	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0097190	Process	Apoptotic signaling pathway	IEA
GO:0098636	Component	Protein complex involved in cell adhesion	IDA	7544393
GO:2000563	Process	Positive regulation of CD4-positive, alpha-beta T cell proliferation	IEA

Other IDs

• MIM: 186760
• HGNC: 1653
• e!Ensembl: ENSG00000178562

Protein

• UniProt ID: P10747
• Protein name: T-cell-specific surface glycoprotein CD28 (TP44) (CD antigen CD28)
• Protein function: Receptor that plays a role in T-cell activation, proliferation, survival and the maintenance of immune homeostasis (PubMed:1650475, PubMed:7568038). Functions not only as an amplifier of TCR signals but delivers unique signals that control intra
• PDB: 1YJD, 3WA4, 5AUL, 5GJH, 5GJI, 6O8D, 7PPN, 7VU5, 8S6Z, 8W2V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15910	V-set_2	23 → 139	ICOS V-set domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in T-cells and plasma cells, but not in less mature B-cells.
• Sequence:

  MLRLLLALNLFPSIQVTGNKILVKQSPMLVAYDNAVNLSCKYSYNLFSREFRASLHKGLD
  SAVEVCVVYGNYSQQLQVYSKTGFNCDGKLGNESVTFYLQNLYVNQTDIYFCKIEVMYPP
  PYLDNEKSNGTIIHVKGKHLCPSPLFPGPSKPFWVLVVVGGVLACYSLLVTVAFIIFWVR
  SKRSRLLHSDYMNMTPRRPGPTRKHYQPYAPPRDFAAYRS

• Sequence length: 220

Pathways

KEGG:

Cell adhesion molecules
T cell receptor signaling pathway
Intestinal immune network for IgA production
Type I diabetes mellitus
Measles
PD-L1 expression and PD-1 checkpoint pathway in cancer
Autoimmune thyroid disease
Systemic lupus erythematosus
Rheumatoid arthritis
Allograft rejection
Graft-versus-host disease
Viral myocarditis

Reactome:

PIP3 activates AKT signaling
Nef mediated downregulation of CD28 cell surface expression
Constitutive Signaling by Aberrant PI3K in Cancer
CD28 co-stimulation
CD28 dependent PI3K/Akt signaling
CD28 dependent Vav1 pathway
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BERYLLIOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHLORACNE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSIC MYCOSIS FUNGOIDES	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 123 WITH HPV-RELATED VERRUCOSIS	—	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO ClinGen, ClinVar, Disgenet, GWAS catalog, HPO ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA-LYMPHOMA, ADULT T-CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sezary Syndrome	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	20842443, 22282196		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10048973, 29637550		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10741704, 31623615		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30152019		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	20140740		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	31195368		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	28805662		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	CTD_human_DG	26437031		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	19752224		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	23747161		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	23163888		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	30449135		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alveolitis Extrinsic Allergic	Extrinsic allergic alveolitis	Pubtator	20030671	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34427746, 40369481	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	36359827	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	11698122, 27036622, 29419434	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31474499		★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	BEFREE	10869258		★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	27177312, 27369867, 30097855		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	16277694, 23607629, 26365494		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antibody Deficiency Syndrome	Antibody Deficiency Syndrome	BEFREE	16384931		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	17182953		★☆☆☆☆ Found in Text Mining only
Aortic Valve Calcification of	Aortic valve disease	Pubtator	21677140	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Disease	Aortic valve disease	Pubtator	30810667	Associate	★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	BEFREE	21677140		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	22902395, 24347824		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	15634938, 19035513, 20483756, 31758536		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	31400229	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	23686519	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	12591902, 16200579, 20738421, 24019115	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	12847680, 12878725, 14726963, 15535835, 17195207, 17565371, 17675524, 19394279, 19843577, 19898481, 19904767, 21508506, 22385242, 22594821, 23045162, 23786396, 24313359, 25592982, 27092776, 31907973, 35964055, 36271469, 37457686, 7503950, 8621791, 8898376	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23165362, 33291545	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	22328738		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	10336593, 10792419, 18070230, 26283408, 28199728, 28234041, 30102794, 31832069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	15958078, 36271469, 40551049	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	21749456		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	21677140, 24347824	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	22902395, 24347824		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	27904907		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	11756004, 18220288, 29045346		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10201965, 10372542, 11509583, 11678454, 12884297, 15086406, 16305681, 17463170, 20390280, 21715687, 21978690, 22700162, 25617471, 26092158, 27927989, 28248972, 28525959, 28660994, 28747139, 28900679, 28978798, 29093061, 29321374, 29441059, 29845333, 30683697, 30830871, 31758530, 31758536, 9416000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	11602626, 15086406, 16106102, 19220836, 19672595, 27211045, 28466476, 32875738, 33291545, 35589883, 36389676	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	CTD_human_DG	15494542, 19077085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	BEFREE	24894771		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	11418479, 24623129, 26195067, 31650026, 9135012		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	15138491, 18396212		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	15196263, 15545055, 26222305, 27922688, 33124559	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	17284227, 18281862, 19284445		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	31630384		★☆☆☆☆ Found in Text Mining only
Berylliosis	Berylliosis	Pubtator	18768897	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases	Bone disease	Pubtator	29472917	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	29472917	Associate	★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	24298980	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27381613, 29089469, 31143539, 9878115		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18507020, 18566447, 23133541, 29089469, 9878115	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans	Bronchiolitis Obliterans	LHGDN	18617642		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	10969772, 12077238		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31195368	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12421958		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31235485, 35349565	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	29190910		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16698419, 31269269		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	37256126	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27292320, 32814710	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	27974462	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	19299722, 36159840	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28303136		★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney complex	Pubtator	37151356	Associate	★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	31617573		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	10372542, 11098935, 12059054, 12174216, 14712308, 15496203, 17767555, 30050538		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	LHGDN	11826026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	Pubtator	19672595, 26859134, 36271469	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASCAT_DG	25920553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	29651892	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	29651892	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	16479445		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	18337305, 19959217, 20846283, 30362552		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	18337305, 19959217, 20846283, 28087292, 30362552		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	40410708	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	24726754, 35281002	Inhibit	★☆☆☆☆ Found in Text Mining only
Chromosome 11p11.2 Deletion Syndrome	11p11.2 Deletion Syndrome	BEFREE	27878564		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	19394279	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	22902395, 27988212		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	24347824, 27926546		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15138491, 18396212, 20520640, 29296862, 29503204, 29910179, 30024314		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	21910726		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	25788457	Stimulate	★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	26403483		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	19220836, 34427746	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	18832683		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	36271469	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	20140740, 29505962		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18680513, 25497975, 26408701		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10602890, 16188919, 16371631, 26957265	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	10760795	Inhibit	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	10844530, 16412063, 17223965, 20629103, 28054583, 7905793	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	31284281		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	26215444, 28082516		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital contractural arachnodactyly	Pubtator	21873805	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26403483		★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal Diseases	BEFREE	31167920		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	18818214, 20842443		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	14535969, 18832677	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	18818214, 20842443, 25845619		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	40508061	Inhibit	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	18832677, 35958279	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	18818214, 19770396, 20842443		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary stenosis	Pubtator	40508061	Inhibit	★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	28484052	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	11423175, 11696237, 28658115		★☆☆☆☆ Found in Text Mining only
CTLA4 Haploinsufficiency	CTLA4 deficiency	BEFREE	30087679		★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	30061900		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29093061		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	11886533	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic 1	Atopic dermatitis	Pubtator	11028864	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Contact	Contact dermatitis	Pubtator	7523532	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	11886533, 18234309, 9856820		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	7513205		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	19752224		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29845333		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	36203592	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	22230325	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29845333		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	11927616, 19672595, 25421756, 31068940, 39777226	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30270447, 33958973	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	11098935, 11685455, 12121283, 18299186, 20644174, 23911738, 23929911, 24103478, 25448703, 25980680, 28491063, 29845333, 30753130, 31094250, 8816976, 9259273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	29845333		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	11369787	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	33958973	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	28129122, 31195368		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	25222269	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	11886533, 18234309, 9856820		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36199963	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	27577071	Associate	★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	28101800		★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	35943990	Associate	★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	17362263	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31754127		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34103370, 37605497	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31754127		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29975720		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	31167920		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	14586728		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	12930376, 18925328	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	21277900, 24564845, 28067900, 28077684, 30102255		★☆☆☆☆ Found in Text Mining only
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	11562512, 12000723, 28040323, 9764612	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	11678911	Inhibit	★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	12865065, 19797511, 28040323		★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	11562512	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Slack Skin	Granulomatous Slack Skin	CTD_human_DG	26192916, 26258847		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	16220002, 18704663, 27638540, 7829637		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	27638540	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	25653477, 27638540	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	28660994		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	28660994	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	36983005	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	18617642	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	28751785		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	9067531	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	30021767		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	21929599, 22700162		★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic encephalopathy	Pubtator	28751644	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	24188429	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	23133541	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	20015273		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	15585513, 22902395, 28805662, 8704179		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	7507734, 8704179	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	11972629	Stimulate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	15585513, 22902395		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	19013141		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	12384094, 19013141		★☆☆☆☆ Found in Text Mining only
Hypertension Portal	Portal hypertension	Pubtator	34930041	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23918240, 28681467		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	23918240		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	10678620, 20126467, 24089408	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30315241		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	15138491, 15730400, 24376655, 29691917	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	15730400, 16849765, 31729942		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	26287565		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	15138491, 15367626, 9104824, 9135012, 9360926		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	20629103	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	25900029		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	19284445		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	25057181		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	28805662		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	26603521	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	27413076	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29862277		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	22902395, 27988212		★☆☆☆☆ Found in Text Mining only
Leishmaniasis Cutaneous	Leishmaniasis	Pubtator	15716079	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	23283468	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	9472661	Inhibit	★☆☆☆☆ Found in Text Mining only
Leprosy Lepromatous	Leprosy	Pubtator	23283468, 9472661	Inhibit	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12842426, 19238016, 29042364		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21046101, 29697355, 36960073, 8098345	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25757160, 26295610, 29697355, 36960073	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29409351		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30040142, 31235485		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	28425483, 36271469	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	29229400	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	24024324	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	20030671, 33298584, 35589883	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24024324, 26711627, 32967633	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	17000707, 18722557, 21978690, 26092158, 29066026, 9153541		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15086406	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15356113, 18641361, 19672595, 24433387, 25098715, 27446964, 29066026, 32576231, 36189300, 8603537	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17469136, 8918566	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	17000707, 18722557, 21978690, 26092158, 29066026, 9153541		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	11196673, 11318593, 11426024, 15086406, 17000707, 17082661, 17469136, 17488482, 18641361, 18722557, 19284445, 20390280, 21544637, 21978690, 26092158, 26631756, 28463775, 29066026, 7888034, 8603537, 9153541, 9153542		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	18625635		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	27446964	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	28631301		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	17000707, 18722557, 21978690, 26092158, 29066026		★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	BEFREE	10762214		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	12884297, 20668237, 21540550, 22308288, 28670716, 30320878, 9135012		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	22308288	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	30784598	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	30784598		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	12853703, 15953005, 30214445		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	12853703, 15953005, 30214445		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	CTD_human_DG	26192916, 26258847		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	28711152		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	LHGDN	11986289		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	9664084		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	17302894, 22048771	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	17463170		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	29165313	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development Group II	Cortical development malformation	Pubtator	28112205	Associate	★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	22308288		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27381613, 29089469, 31143539		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	26403483		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16698419, 31269269		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30214445		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28101800, 31630384		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30777106		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12645943, 15242530, 18396212, 18680513, 18832685, 19913589, 20137575, 21669243, 22107246, 24927673, 25534869, 26365494, 28679835, 28821531, 29122838, 29794465, 30203099, 30361907, 30867406, 31269269		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	18337305, 19959217, 20846283, 30362552		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	20140740, 29505962		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	17362263	Associate	★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19188165		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	29723656		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	22308288		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10382762, 10490996, 19672595, 29238207, 31741775, 7543078		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10382762, 10823418, 11169413, 12357321, 15345595, 15889254, 15944290, 19672595, 22199267	Associate	★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	19766059, 21481059, 27488439		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	36983005	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	10848782, 12853703, 17311991, 23450831, 25860485, 27809856, 29089645, 30128739, 35380688, 36982802, 7522634	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	11418479, 18443352, 24782505, 28881756, 29920491, 31449833		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	14717778	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	11602626, 11710992, 12604314, 12864988, 14975605, 18573819, 24412596, 25617471, 26531698, 30848579, 31212712		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	11602626, 31068940, 31212712, 36271469, 36535763, 9466965	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	LHGDN	14975605		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	24412596		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	10713366		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	34794447	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	27870945		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	11698122	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	19394279, 19843577		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	19394279, 19843577	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myositis	Myositis	Pubtator	10433938	Associate	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	10433938	Stimulate	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	24594700	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	36438903	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	35943990	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10490996, 10969772, 12077238, 12384413, 12421958, 12599287, 14565660, 15060573, 15115782, 15846492, 16113399, 16188919, 16365597, 16734614, 16926291, 19773745, 20137575, 20387166, 20708974, 20980695, 22117050, 23133541, 25320284, 26824503, 27632942, 27803044, 28670716, 28711152, 28807568, 28921877, 29042364, 29061641, 29089469, 29503195, 29661826, 29748183, 30076299, 30152019, 30203099, 30459765, 30971280, 31181772, 31754127, 7520026		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	21487638		★☆☆☆☆ Found in Text Mining only
Nephritis Interstitial	Interstitial nephritis	Pubtator	11302869	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	23607447	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	27769261	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuropathy	Neuropathy	BEFREE	10908195		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17668204, 20137575, 21669243, 27553831, 28624781, 28693285, 29238207, 30971280, 31623615		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	20430731	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	20920469		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	29472917	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25198528		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10606960, 25712684, 26166762	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36837407	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30214445		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	10600342		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	22322668	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	18502825, 19766325	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29807534		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	29807534	Associate	★☆☆☆☆ Found in Text Mining only
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	BEFREE	12865065, 19797511		★☆☆☆☆ Found in Text Mining only
PEELING SKIN SYNDROME	Peeling Skin Syndrome	BEFREE	27878564		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	32875738	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	26661498		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	23163888, 30753969		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	23163888		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	CTD_human_DG	26192916		★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	26719098		★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	10606960	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	34360900	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	34257554	Associate	★☆☆☆☆ Found in Text Mining only
Poikiloderma	Poikiloderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	29789880		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	Pubtator	10433938	Stimulate	★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	12409186, 19752224		★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	30860598		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	23585892, 27253354		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	10048973		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	26347073		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	28112205		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	16638702, 26347073, 28794437		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28101800, 31630384		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	26993768, 7545097	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28101800, 33293427	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	10974034	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	7513205		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	16611655, 19220836, 24885856, 26498345, 27769261	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25573300, 32270742	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30060832		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	26403483		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26403483		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	40234829	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11196673, 11318597, 11369787, 11544310, 11696237, 11937537, 15535835, 15642134, 17328044, 17565371, 17675524, 18292521, 19394279, 19904767, 20113255, 20738421, 21508506, 21691744, 22385242, 22594821, 24313359, 24832108, 24912006, 25510954, 26658904, 27092776, 27125674, 28833034, 29500936, 29922065, 8898376, 9870867		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	17804530		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	19898481, 20453842, 23143596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	23143596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	Pubtator	20030671, 32764642, 7586698	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	25800760		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	23435301	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	25998553, 28673752		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	12687555	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	15086406	Stimulate	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	22187279	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31733683		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	10969772, 9664084		★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency	Pubtator	18218852	Associate	★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	12935975		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sezary Syndrome	Sezary Syndrome	ORPHANET_DG	26258847		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
	Sezary Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Sialic Acid Storage Disease, Finnish Type (disorder)	Sialic Acid Storage Disease	BEFREE	30203099		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	22403659		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	15086406	Stimulate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	29992636	Inhibit	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	30336792	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	33777045, 7523532	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	24510054, 7513205, 9153541		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotrophinoma, Familial	Somatotroph adenoma	BEFREE	28921877		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	12932293, 16219708, 40389847	Associate	★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	23133541		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	31623615		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32281488, 36983005	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	29238207		★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	10869258, 22282196, 25814225, 29211854		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30777106		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	12687555, 15086406, 27878564, 28866045		★☆☆☆☆ Found in Text Mining only
T-Cell Large Granular Lymphocyte Leukemia	T-cell Lymphocytic Leukemia	BEFREE	19075187		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	22163033, 26819049		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	11163393		★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	18704663, 25653477		★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	19672595	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	40613791	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	22851040, 26261163, 27111346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26192919		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uremia	Uremia	Pubtator	23809614	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	28940644		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	12121440	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	32518078	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	18337305, 22094905	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	15196263	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	26603521, 33196557	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29319621		★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	11369787, 25484131	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	11369787, 19284445, 30975299		★☆☆☆☆ Found in Text Mining only
Vasculitis of large artery	Vasculitis	BEFREE	30975299		★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	17082665, 17296785		★☆☆☆☆ Found in Text Mining only