CD40LG (CD40 ligand)

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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 959
• Gene name: CD40 ligand
• Gene symbol: CD40LG
• Synonyms (NCBI Gene): CD154, CD40L, HIGM1, IGM, IMD3, T-BAM, TNFSF5, TRAP, gp39, hCD40L
• Chromosome: X
• Chromosome location: Xq26.3
• Summary: The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper

SNPs Show/Hide all (37)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894768	G>T	Pathogenic	Coding sequence variant, missense variant
rs104894769	T>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104894771	G>C	Pathogenic	Coding sequence variant, missense variant
rs104894772	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894773	T>A,C	Likely-benign, pathogenic	Coding sequence variant, synonymous variant, missense variant
rs104894774	T>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs104894775	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894777	T>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104894778	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs193922134	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922135	C>T	Pathogenic	Coding sequence variant, stop gained
rs193922136	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs368003929	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs786205606	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs786205607	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886039326	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs886041747	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518628	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057521127	C>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057521128	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307733	C>T	Pathogenic	Coding sequence variant, stop gained
rs1387503550	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs1556136635	C>A	Pathogenic	Stop gained, coding sequence variant
rs1556139575	G>-	Pathogenic	Coding sequence variant, splice donor variant
rs1556143529	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569376229	G>A	Likely-pathogenic	Splice donor variant
rs1569376925	AAAGAGGAGAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569376930	GAAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569377237	A>G	Pathogenic	Splice acceptor variant
rs1569377829	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1569377865	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1603319726	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1603321138	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603321154	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1603321772	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1603321834	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1603321840	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA Show/Hide all (165)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005463	hsa-miR-146a-5p	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	21236257
MIRT663024	hsa-miR-5681a	HITS-CLIP	23824327
MIRT663023	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT663022	hsa-miR-3152-3p	HITS-CLIP	23824327
MIRT663021	hsa-miR-4455	HITS-CLIP	23824327
MIRT663020	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT619130	hsa-miR-888-3p	HITS-CLIP	23824327
MIRT619129	hsa-miR-4499	HITS-CLIP	23824327
MIRT619128	hsa-miR-9500	HITS-CLIP	23824327
MIRT619127	hsa-miR-637	HITS-CLIP	23824327
MIRT619126	hsa-miR-4513	HITS-CLIP	23824327
MIRT619125	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT619124	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT619123	hsa-miR-6077	HITS-CLIP	23824327
MIRT619122	hsa-miR-1249-5p	HITS-CLIP	23824327
MIRT619121	hsa-miR-6797-5p	HITS-CLIP	23824327
MIRT619120	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT619119	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT619118	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT619117	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT619116	hsa-miR-6825-5p	HITS-CLIP	23824327
MIRT619115	hsa-miR-625-5p	HITS-CLIP	23824327
MIRT619114	hsa-miR-4723-5p	HITS-CLIP	23824327
MIRT619113	hsa-miR-5698	HITS-CLIP	23824327
MIRT619112	hsa-miR-6870-5p	HITS-CLIP	23824327
MIRT619111	hsa-miR-7111-5p	HITS-CLIP	23824327
MIRT619110	hsa-miR-4525	HITS-CLIP	23824327
MIRT619109	hsa-miR-5010-5p	HITS-CLIP	23824327
MIRT619108	hsa-miR-1275	HITS-CLIP	23824327
MIRT619107	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT619130	hsa-miR-888-3p	HITS-CLIP	23824327
MIRT619129	hsa-miR-4499	HITS-CLIP	23824327
MIRT619128	hsa-miR-9500	HITS-CLIP	23824327
MIRT619127	hsa-miR-637	HITS-CLIP	23824327
MIRT619126	hsa-miR-4513	HITS-CLIP	23824327
MIRT619125	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT619124	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT619123	hsa-miR-6077	HITS-CLIP	23824327
MIRT619122	hsa-miR-1249-5p	HITS-CLIP	23824327
MIRT619121	hsa-miR-6797-5p	HITS-CLIP	23824327
MIRT619120	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT619119	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT619118	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT619117	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT619116	hsa-miR-6825-5p	HITS-CLIP	23824327
MIRT619115	hsa-miR-625-5p	HITS-CLIP	23824327
MIRT619114	hsa-miR-4723-5p	HITS-CLIP	23824327
MIRT619113	hsa-miR-5698	HITS-CLIP	23824327
MIRT619112	hsa-miR-6870-5p	HITS-CLIP	23824327
MIRT619111	hsa-miR-7111-5p	HITS-CLIP	23824327
MIRT619110	hsa-miR-4525	HITS-CLIP	23824327
MIRT619109	hsa-miR-5010-5p	HITS-CLIP	23824327
MIRT619108	hsa-miR-1275	HITS-CLIP	23824327
MIRT619107	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT663020	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT663020	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT663020	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT663023	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT663023	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT663023	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT663024	hsa-miR-5681a	HITS-CLIP	23824327
MIRT663023	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT663022	hsa-miR-3152-3p	HITS-CLIP	23824327
MIRT663021	hsa-miR-4455	HITS-CLIP	23824327
MIRT663020	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT619130	hsa-miR-888-3p	HITS-CLIP	23824327
MIRT619129	hsa-miR-4499	HITS-CLIP	23824327
MIRT619128	hsa-miR-9500	HITS-CLIP	23824327
MIRT619127	hsa-miR-637	HITS-CLIP	23824327
MIRT619126	hsa-miR-4513	HITS-CLIP	23824327
MIRT619125	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT619124	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT619123	hsa-miR-6077	HITS-CLIP	23824327
MIRT619122	hsa-miR-1249-5p	HITS-CLIP	23824327
MIRT619121	hsa-miR-6797-5p	HITS-CLIP	23824327
MIRT619120	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT619119	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT619118	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT619117	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT619116	hsa-miR-6825-5p	HITS-CLIP	23824327
MIRT619115	hsa-miR-625-5p	HITS-CLIP	23824327
MIRT619114	hsa-miR-4723-5p	HITS-CLIP	23824327
MIRT619113	hsa-miR-5698	HITS-CLIP	23824327
MIRT619112	hsa-miR-6870-5p	HITS-CLIP	23824327
MIRT619111	hsa-miR-7111-5p	HITS-CLIP	23824327
MIRT619110	hsa-miR-4525	HITS-CLIP	23824327
MIRT619109	hsa-miR-5010-5p	HITS-CLIP	23824327
MIRT619108	hsa-miR-1275	HITS-CLIP	23824327
MIRT619107	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT619130	hsa-miR-888-3p	HITS-CLIP	23824327
MIRT619129	hsa-miR-4499	HITS-CLIP	23824327
MIRT619128	hsa-miR-9500	HITS-CLIP	23824327
MIRT619127	hsa-miR-637	HITS-CLIP	23824327
MIRT619126	hsa-miR-4513	HITS-CLIP	23824327
MIRT619125	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT619124	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT619123	hsa-miR-6077	HITS-CLIP	23824327
MIRT619122	hsa-miR-1249-5p	HITS-CLIP	23824327
MIRT619121	hsa-miR-6797-5p	HITS-CLIP	23824327
MIRT619120	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT619119	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT619118	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT619117	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT619116	hsa-miR-6825-5p	HITS-CLIP	23824327
MIRT619115	hsa-miR-625-5p	HITS-CLIP	23824327
MIRT619114	hsa-miR-4723-5p	HITS-CLIP	23824327
MIRT619113	hsa-miR-5698	HITS-CLIP	23824327
MIRT619112	hsa-miR-6870-5p	HITS-CLIP	23824327
MIRT619111	hsa-miR-7111-5p	HITS-CLIP	23824327
MIRT619110	hsa-miR-4525	HITS-CLIP	23824327
MIRT619109	hsa-miR-5010-5p	HITS-CLIP	23824327
MIRT619108	hsa-miR-1275	HITS-CLIP	23824327
MIRT619107	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT875381	hsa-miR-1205	CLIP-seq
MIRT875382	hsa-miR-1273f	CLIP-seq
MIRT875383	hsa-miR-185	CLIP-seq
MIRT875384	hsa-miR-3123	CLIP-seq
MIRT875385	hsa-miR-3170	CLIP-seq
MIRT875386	hsa-miR-326	CLIP-seq
MIRT875387	hsa-miR-330-5p	CLIP-seq
MIRT875388	hsa-miR-338-5p	CLIP-seq
MIRT875389	hsa-miR-346	CLIP-seq
MIRT875390	hsa-miR-3665	CLIP-seq
MIRT875391	hsa-miR-3927	CLIP-seq
MIRT875392	hsa-miR-3935	CLIP-seq
MIRT875393	hsa-miR-4288	CLIP-seq
MIRT875394	hsa-miR-4306	CLIP-seq
MIRT875395	hsa-miR-4311	CLIP-seq
MIRT875396	hsa-miR-4418	CLIP-seq
MIRT875397	hsa-miR-4534	CLIP-seq
MIRT875398	hsa-miR-4644	CLIP-seq
MIRT875399	hsa-miR-4666-3p	CLIP-seq
MIRT875400	hsa-miR-4711-5p	CLIP-seq
MIRT875401	hsa-miR-4764-5p	CLIP-seq
MIRT875402	hsa-miR-4766-5p	CLIP-seq
MIRT875403	hsa-miR-4782-5p	CLIP-seq
MIRT875404	hsa-miR-488	CLIP-seq
MIRT875405	hsa-miR-509-3-5p	CLIP-seq
MIRT875406	hsa-miR-509-5p	CLIP-seq
MIRT875407	hsa-miR-515-5p	CLIP-seq
MIRT875408	hsa-miR-632	CLIP-seq
MIRT875409	hsa-miR-654-3p	CLIP-seq
MIRT875410	hsa-miR-657	CLIP-seq
MIRT875382	hsa-miR-1273f	CLIP-seq
MIRT875383	hsa-miR-185	CLIP-seq
MIRT1959521	hsa-miR-3607-5p	CLIP-seq
MIRT1959522	hsa-miR-3661	CLIP-seq
MIRT875394	hsa-miR-4306	CLIP-seq
MIRT875395	hsa-miR-4311	CLIP-seq
MIRT1959523	hsa-miR-4501	CLIP-seq
MIRT875397	hsa-miR-4534	CLIP-seq
MIRT875398	hsa-miR-4644	CLIP-seq
MIRT875407	hsa-miR-515-5p	CLIP-seq
MIRT1959524	hsa-miR-631	CLIP-seq
MIRT1959525	hsa-miR-659	CLIP-seq
MIRT875382	hsa-miR-1273f	CLIP-seq
MIRT875383	hsa-miR-185	CLIP-seq
MIRT2196504	hsa-miR-1908	CLIP-seq
MIRT875394	hsa-miR-4306	CLIP-seq
MIRT875395	hsa-miR-4311	CLIP-seq
MIRT875397	hsa-miR-4534	CLIP-seq
MIRT875398	hsa-miR-4644	CLIP-seq
MIRT875407	hsa-miR-515-5p	CLIP-seq
MIRT2196505	hsa-miR-663	CLIP-seq
MIRT875407	hsa-miR-515-5p	CLIP-seq

Transcription factors Show/Hide all (8)

Transcription factor	Regulation	Reference
FOS	Unknown	11160303
GATA3	Activation	18719603
JUND	Unknown	11160303
NFKB1	Activation	11751888
NFKB1	Unknown	11160303;11529914;21243522
REL	Unknown	11160303
RELA	Unknown	11160303;11529914;21243522
STAT1	Activation	12855573

Gene ontology (GO) Show/Hide all (51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002637	Process	Regulation of immunoglobulin production	IEA
GO:0002682	Process	Regulation of immune system process	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IDA	9468137
GO:0005125	Function	Cytokine activity	IEA
GO:0005164	Function	Tumor necrosis factor receptor binding	IEA
GO:0005174	Function	CD40 receptor binding	IMP	31331973
GO:0005174	Function	CD40 receptor binding	IPI	9468137
GO:0005178	Function	Integrin binding	IMP	31331973
GO:0005515	Function	Protein binding	IPI	15067037, 31331973
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	9468137
GO:0005615	Component	Extracellular space	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7678552
GO:0006954	Process	Inflammatory response	IDA	9468137
GO:0006955	Process	Immune response	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007159	Process	Leukocyte cell-cell adhesion	NAS	9468137
GO:0007166	Process	Cell surface receptor signaling pathway	IBA
GO:0007229	Process	Integrin-mediated signaling pathway	IMP	31331973
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	IDA	15067037
GO:0009986	Component	Cell surface	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	9468137
GO:0023035	Process	CD40 signaling pathway	IDA	8910514, 15708970
GO:0023035	Process	CD40 signaling pathway	IDA	1280226
GO:0023035	Process	CD40 signaling pathway	IMP	31331973
GO:0023052	Process	Signaling	IEA
GO:0030168	Process	Platelet activation	IDA	9468137
GO:0030183	Process	B cell differentiation	IEA
GO:0031295	Process	T cell costimulation	TAS	8617933
GO:0032733	Process	Positive regulation of interleukin-10 production	IDA	8617933
GO:0032735	Process	Positive regulation of interleukin-12 production	IDA	9922218
GO:0032753	Process	Positive regulation of interleukin-4 production	IDA	8617933
GO:0042100	Process	B cell proliferation	IDA	8605945
GO:0042102	Process	Positive regulation of T cell proliferation	IDA	8617933
GO:0043066	Process	Negative regulation of apoptotic process	IDA	12697681
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IBA
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	15067037
GO:0045190	Process	Isotype switching	IEA
GO:0045190	Process	Isotype switching	ISS
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	15067037
GO:2000353	Process	Positive regulation of endothelial cell apoptotic process	IDA	12885753
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	IBA

Other IDs

• MIM: 300386
• HGNC: 11935
• e!Ensembl: ENSG00000102245

Protein

• UniProt ID: P29965
• Protein name: CD40 ligand (CD40-L) (T-cell antigen Gp39) (TNF-related activation protein) (TRAP) (Tumor necrosis factor ligand superfamily member 5) (CD antigen CD154) [Cleaved into: CD40 ligand, membrane form; CD40 ligand, soluble form (sCD40L)]
• Protein function: Cytokine that acts as a ligand to CD40/TNFRSF5 (PubMed:1280226, PubMed:31331973). Costimulates T-cell proliferation and cytokine production (PubMed:8617933). Its cross-linking on T-cells generates a costimulatory signal which enhances the produc
• PDB: 1ALY , 1I9R , 3LKJ , 3QD6 , 6BRB , 6W9G , 7SGM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00229	TNF	138 → 261	TNF(Tumour Necrosis Factor) family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Specifically expressed on activated CD4+ T-lymphocytes.
• Sequence:

  MIETYNQTSPRSAATGLPISMKIFMYLLTVFLITQMIGSALFAVYLHRRLDKIEDERNLH
  EDFVFMKTIQRCNTGERSLSLLNCEEIKSQFEGFVKDIMLNKEETKKENSFEMQKGDQNP
  QIAAHVISEASSKTTSVLQWAEKGYYTMSNNLVTLENGKQLTVKRQGLYYIYAQVTFCSN
  REASSQAPFIASLCLKSPGRFERILLRAANTHSSAKPCGQQSIHLGGVFELQPGASVFVN
  VTDPSQVSHGTGFTSFGLLKL

• Sequence length: 261

Pathways

KEGG Pathway	Reactome Pathway
Cytokine-cytokine receptor interaction	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
NF-kappa B signaling pathway	TNFR2 non-canonical NF-kB pathway
Cell adhesion molecules	TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
T cell receptor signaling pathway
Intestinal immune network for IgA production
Malaria
Toxoplasmosis
Asthma
Autoimmune thyroid disease
Systemic lupus erythematosus
Allograft rejection
Primary immunodeficiency
Viral myocarditis
Lipid and atherosclerosis

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
Common variable immunodeficiency	Likely pathogenic	rs1569376229	RCV003493731	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyper-IgM syndrome type 1	Likely pathogenic; Pathogenic	rs2148552406, rs2148550523, rs2148552407, rs2148552412, rs2148553684, rs2148551084, rs767889061, rs2148552941, rs2148552379, rs2148553738, rs1215852570, rs2148550585, rs2522106494, rs144855738, rs2148551102, rs104894776, rs2522117875, rs2522117947, rs2522103731, rs2522106594, rs2522117728, rs2522111616, rs2522118648, rs2522111700, rs2522117745, rs2522117925, rs2148553785, rs368157256, rs1477466218, rs886039326, rs104894771, rs104894768, rs104894769, rs104894774, rs104894775, rs104894777, rs104894778, rs193922134, rs2522118292, rs2522114205, rs2522118504, rs2522103909, rs2522103865, rs2522118161, rs1057521128, rs1085307733, rs1387503550, rs193922135, rs193922136, rs1556143529, rs1569376925, rs1569376930, rs1569377237, rs1569376229, rs1603321148, rs1603321772, rs1603321834, rs1603321138, rs2076119100, rs2076119189, rs2076126996, rs2076127075, rs2076127133, rs2076127875, rs2076095044, rs2076127276, rs2076113325	RCV001379720 RCV001384131 RCV001387581 RCV001382556 RCV001382557 RCV004819198 RCV001955839 RCV001897038 RCV001954712 RCV001925891 RCV001935283 RCV001895461 RCV002468418 RCV003066380 RCV003066381 RCV003066382 RCV003066383 RCV003066384 RCV003041484 RCV002823843 RCV002823885 RCV002834387 RCV002899648 RCV002927819 RCV003015911 RCV003023907 RCV003023948 RCV003140603 RCV003142255 RCV003228759 RCV002518747 RCV000011907 RCV000011909 RCV000011910 RCV000011912 RCV000011913 RCV000011914 RCV000011918 RCV000011919 RCV003314341 RCV003513701 RCV003511598 RCV003512468 RCV003622715 RCV003622250 RCV001378166 RCV001865515 RCV000606199 RCV000029463 RCV000029464 RCV000029466 RCV003512068 RCV000636648 RCV000685846 RCV000689441 RCV003987683 RCV000781202 RCV000803202 RCV000805406 RCV000818235 RCV001030051 RCV001049523 RCV001070147 RCV001066545 RCV001060070 RCV001060218 RCV001203125 RCV001236186 RCV001226556 RCV001237589 RCV001253461 RCV001264504	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperimmunoglobulin M syndrome	Pathogenic	rs2076118841	RCV001193392	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs2148552406	RCV005912621	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (22)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	20348957	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTIPHOSPHOLIPID SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES	—	CTD	15494542	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CD40LG-related disorder	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD	16368305	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSGAMMAGLOBULINEMIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKIN DISEASE	—	CTD	7621881, 8656679	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 1	—	CTD, Disgenet CTD, Disgenet	15611226	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERSENSITIVITY	—	CTD	21625544	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PULMONARY	—	CTD	15302794	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	CTD, Disgenet CTD, Disgenet	28793932	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS NEPHRITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOCUTANEOUS LYMPH NODE SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROSIS	—	CTD	22295117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED HYPER-IGM SYNDROME	—	Orphanet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (486)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	BEFREE	11112359, 7508119		★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	28267402		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	LHGDN	11922919		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	16627810, 20137882, 30924686, 31183392		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	12200675		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15498717, 19580345, 21527935		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	12423681		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	12676804, 29523597		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23994887, 30078020, 30209589		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	19580345, 21527935		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	17258259, 31781157		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	10444360, 10843719		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	BEFREE	30240888, 7916370		★☆☆☆☆ Found in Text Mining only
Alloimmunisation	Alloimmunisation	BEFREE	28824633		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	9394977	Stimulate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	15071493, 18055209		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	20348957		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	CTD_human_DG	20348957		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis With Dementia	Amyotrophic Lateral Sclerosis With Dementia	CTD_human_DG	20348957		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Guam Form	Amyotrophic lateral sclerosis	CTD_human_DG	20348957		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	28352049, 29656787		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	23241952		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	28609750		★☆☆☆☆ Found in Text Mining only
Aneurysm, Dissecting	Aortic Aneurysm	BEFREE	29519940		★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	11711459	Associate	★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	11711459, 34239024	Associate	★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	LHGDN	16182391		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	28883908		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	11535526, 34114358	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	14743151	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29519940		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	22537155		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	10073974, 10546000, 12857968, 14517846, 15277394, 16504636, 17332487, 17372166, 18285570, 18977174, 19061720, 19187784, 19282242, 20174757, 20456428, 20651286, 21998326, 23166616, 23896727, 24030045, 24664276, 26719354, 26821950, 28379034, 28883908, 29162926, 29406859, 31373353, 9050882		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	Pubtator	11069068	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	10366125, 10856699, 29391506		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	10366125	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Infectious	Infective arthritis	Pubtator	18945879	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	10366125	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	24676037	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10366125, 10700427, 10886401, 11056676, 15248214, 16736517, 17845713, 24742142, 28837666, 30402903, 9410920	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	11905840, 24019115	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	30864351, 34714718	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	23538518, 24631270		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	10073974, 10546000, 12857968, 14517846, 15277394, 16504636, 17332487, 17372166, 18285570, 18977174, 19061720, 19187784, 19282242, 20174757, 20456428, 20651286, 21998326, 23166616, 23896727, 24030045, 24664276, 26719354, 26821950, 28379034, 28883908, 29162926, 29406859, 31373353, 9050882		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	10623647, 11985663, 14607202, 14769218, 15467191, 17543638, 21733938, 22440854, 23166616, 23561892, 25970603, 26719354, 33406736, 9050882, 9285647	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	14687897, 15868137, 16186418, 16777115, 18787388		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	LHGDN	17901373		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	17901373, 22992131	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	29374968	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29374968, 29558818		★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	18268093		★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	18268093	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	28070266	Stimulate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	28070266		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	16448457		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10085405, 10546000, 10856699, 11237554, 11535630, 11805138, 12857968, 16393964, 16448457, 17026470, 17562816, 17709483, 17845713, 18640985, 22427471, 24106272, 24117612, 24912008, 28320458, 28455435, 29050818, 29127458, 29132233, 29391506, 29484632, 29773027, 30113724, 30552917, 30811635, 31019027, 31109957, 31426619, 31647605, 31648370, 8809473		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	12115186, 12509450, 17562816, 17845713, 20026377, 23092922, 27391025, 31616406	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	LHGDN	12509450		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	CTD_human_DG	15494542		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	11905840	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	10666198, 10910917, 10946281, 14511234, 15300803, 16099873, 26196236, 28077657, 9551893		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	10520003, 12199774, 14662328, 20072155, 8566887		★☆☆☆☆ Found in Text Mining only
Bare lymphocyte syndrome 2	Bare lymphocyte syndrome	Pubtator	9521069	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	29052524	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	29052524		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	12224026, 24357147		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	32709752	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	16736517	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	17805323	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	LHGDN	12764232		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	21733938	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	22996231		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10216096, 15360007, 16794829, 19228733, 24773154, 30848201		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16794829, 23934044, 25992978	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19400944	Stimulate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans	Bronchiolitis Obliterans	BEFREE	30472390		★☆☆☆☆ Found in Text Mining only
Bruton type agammaglobulinemia	Bruton type agammaglobulinemia	Pubtator	26873735	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	LHGDN	11964311, 16464740, 18661398		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	11964311, 17709483, 7595225, 9763568	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	17709483, 20978397, 7595225, 9763568		★☆☆☆☆ Found in Text Mining only
Buruli Ulcer	Buruli ulcer	Pubtator	28241036	Associate	★☆☆☆☆ Found in Text Mining only
Buruli Ulcer	Buruli Ulcer	BEFREE	28241036		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19461675, 20811715, 28267402, 29773027, 8809473		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23825554, 38548267	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	12224026, 24357147		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17675129, 20811715, 24173626, 25352298, 28187172, 29565449, 29568866		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	11950960	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33180184, 39256468	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	11472395, 34445576, 9030857	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37177979	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	12592374	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27044825		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	17879023		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	17543638, 24358353	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	17893562, 20174757, 20811715, 29036612, 29514135, 31424619		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	27992360	Stimulate	★☆☆☆☆ Found in Text Mining only
Carnitine palmitoyl transferase 2 deficiency	Carnitine palmitoyltransferase deficiency	Pubtator	35572607	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	23561892	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	11839576	Associate	★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	BEFREE	7508119		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	18055209		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	17901373, 23561892	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	20927633		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28860901, 29249591		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	26719354	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	12357356, 19580345, 21527935		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	21103345	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	21103345		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	33180184	Stimulate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30823870		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10049067, 10520003, 11042507, 11049967, 11175813, 1175131, 11891278, 11981828, 12199774, 12377186, 12444172, 12718765, 12796382, 1282064, 12930326, 14662328, 15291346, 16014560, 16082377, 16179374, 16270354, 16741250, 17760804, 19092852, 19965642, 20072155, 20122733, 22505652, 2439101, 24797583, 24914134, 25255445, 25344228, 26050196, 26086969, 27095788, 27697994, 28192408, 29262536, 29899382, 30082430, 30271400, 30788083, 31601046, 8541553, 8566887, 9288724, 9486984		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	11891278, 11902141, 16014560		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	32345091	Stimulate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	20631174, 23555843	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31559420		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	16149136, 32141817	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11001366, 18603231, 27262846, 29155517		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	12970138	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18603231		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12095923, 30273198		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29155517, 33180184	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	11112359, 11876763, 27069935, 29780795, 30240888, 7508119, 9933119		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	11520777, 17893433, 20652909, 35570134, 9246212, 9933119	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Common Variable Immunodeficiency	Common Variable Immunodeficiency	LHGDN	17893433		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	7508119	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	12199774		★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	18594157		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12224026, 23538518		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	BEFREE	27879468		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	CTD_human_DG	16368305		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	19564823, 21091218		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	LHGDN	15115688, 18054068		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	CTD_human_DG	16368305		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	19564823, 21091218, 27879468, 29433015		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	21889313	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	22645426, 27525421	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	28796044	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	LHGDN	19019166		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	19564823, 21091218, 31373353		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	10566730, 29303623		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	33298614	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	11440619, 25742660		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	25742660, 28030642	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	33479350	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	11535630		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	Pubtator	33481042	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	28821884	Associate	★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	8898941		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	10444360, 10843719		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10637268, 11805138, 31424619		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10637268, 11805138, 31424619		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19755790	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	14963650, 19943328, 28534223		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15277394, 16198017, 30287229, 31338751		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	15708899	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	38027201	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28339909		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	30149416		★☆☆☆☆ Found in Text Mining only
Diverticulitis	Diverticulitis	BEFREE	10566730		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	25222269, 27293319	Associate	★☆☆☆☆ Found in Text Mining only
Dysgammaglobulinemia	Dysgammaglobulinemia	BEFREE	11039132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysgammaglobulinemia	Dysfibrinogenemia	Pubtator	19903677	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysgammaglobulinemia	Dysgammaglobulinemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalitis	Encephalitis	Pubtator	29245273	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	29306404		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34158412	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	27488034		★☆☆☆☆ Found in Text Mining only
Enteritis	Enteritis	BEFREE	11369571		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	36808635	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	27044825		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	27630283	Associate	★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	29223146	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	29985430	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	29985430, 30096208		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	29155846		★☆☆☆☆ Found in Text Mining only
Focal Segmental Glomerulosclerosis, Not Otherwise Specified	Focal segmental glomerulosclerosis	BEFREE	29155846		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	33180184	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	26038090		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29244745	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31125770		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31125770		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	12704411, 31116747		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	17893562, 20506525		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	20506525	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	8973620	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	28339909		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	16792671	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	15449032		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	15147360	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	BEFREE	27612658, 30888403, 31782290		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves disease	Pubtator	27612658	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	19117935, 25653477, 27612658, 9792671	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	15147360	Inhibit	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	32917280	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	21177803	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	14607202	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	18086125	Associate	★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	23241952		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	24141767		★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	29068360		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	10520003	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	17634507	Associate	★☆☆☆☆ Found in Text Mining only
Heymann Nephritis	Heymann Nephritis	BEFREE	30811635		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	11279801, 18277385, 7522624, 8541553, 8656679		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin Disease	Hodgkin disease	Pubtator	11815953, 7522624, 7573367, 9746758	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin Disease	Hodgkin disease	Pubtator	21114485	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington disease	Pubtator	10090942	Associate	★☆☆☆☆ Found in Text Mining only
Hyper-IgM Immunodeficiency Syndrome, Type 1	Hyper-IgM Immunodeficiency Syndrome	BEFREE	10207167, 10366125, 10559240, 10837404, 10931152, 11038461, 11107502, 11112359, 11127303, 11237554, 11270473, 11358428, 11414747, 11801691, 11850600, 11885719, 11906038, 11987983, 12823286, 12840068, 12893749, 12952351, 14610488, 14641931, 15114594, 15319456, 15358621, 15623492, 15997875, 16019685, 16169277, 16311023, 16509032, 17307885, 18594157, 18805740, 18955577, 19170966, 19575287, 19667096, 20591076, 20981468, 21107438, 21958324, 22154528, 22193914, 22322937, 22750225, 23010537, 23538518, 24030045, 24768948, 25215306, 25268346, 25430087, 25752457, 25840720, 26064940, 26073206, 26903548, 27324886, 29132233, 29245273, 29525420, 29675019, 29780795, 29847792, 30240888, 30447657, 30681380, 31401902, 31572394, 7506037, 7507684, 7518839, 7523449, 7532185, 7539026, 7542090, 7678782, 7679801, 7717401, 7907793, 7915248, 7964460, 7999797, 8094231, 8550833, 8566950, 8759730, 8809473, 8961627, 8993019, 9030857, 9058789, 9150729, 9175918, 9344700, 9371254, 9697710, 9746782, 9819192, 9857288, 9933119		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyper-IgM Immunodeficiency Syndrome, Type 1	Hyper-IgM Immunodeficiency Syndrome	CLINVAR_DG	10484640, 1427881, 15358621, 15623492, 15924140, 17351759, 19575287, 20591076, 22678466, 25541662, 29077208, 7679206, 7916370, 8094231, 8889581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyper-IgM Immunodeficiency Syndrome, Type 1	Hyper-IgM Immunodeficiency Syndrome	CTD_human_DG	15611226		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyper-IgM Immunodeficiency Syndrome, Type 1	Hyper-IgM Immunodeficiency Syndrome	UNIPROT_DG	26545377, 31331973, 7532185, 7678782, 7679206, 7679801, 7717401, 8094231, 8550833, 8889581, 9150729, 9746782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyper-IgM Immunodeficiency Syndrome, Type 1	Hyper-IgM Immunodeficiency Syndrome	GENOMICS_ENGLAND_DG	27189378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyper-IgM Immunodeficiency Syndrome, Type 1	Hyper-IgM Immunodeficiency Syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC	Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia	BEFREE	11224521		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	15629370, 17388962	Associate	★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	37325657	Associate	★☆☆☆☆ Found in Text Mining only
Hypergammaglobulinemia	Hypergammaglobulinemia	BEFREE	7586644		★☆☆☆☆ Found in Text Mining only
Hypergammaglobulinemia	Hypergammaglobulinemia	Pubtator	9808566	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	LHGDN	16380494		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	17127486	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	Pubtator	17543638	Associate	★☆☆☆☆ Found in Text Mining only
Hyperimmunoglobulin M syndrome	Hyperimmunoglobulin M Syndrome	BEFREE	10559240, 11112359, 11817328, 11885719, 12952351, 14582569, 15114594, 16311023, 18594157, 19575287, 20981468, 25752457, 26073206, 29132233, 29675019, 30053428, 7523449, 7678782, 7907793, 7999797, 8094231, 8550833, 8809473, 9030857, 9058789, 9933119		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperimmunoglobulin M syndrome	Hyperimmunoglobulin M Syndrome	LHGDN	11801691, 11817328, 17106168, 17360404, 19170966		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperimmunoglobulin M syndrome	Hyperimmunoglobulin M Syndrome	CLINVAR_DG	17351759, 19575287, 24402618		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperinsulinism	Hyperinsulinism	LHGDN	16380494		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	17127486	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	35267244	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	29036612		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	12535822	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	17388962	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	30864351	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	20456428, 27658543, 31424619		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	22017306		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	37409959	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertrophy of tonsils	Hypertrophy Of Tonsils	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	29709555, 8566887, 8669967		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22295117	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	31403245		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	15302794, 31393052		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	37266442	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	10337023, 16099873, 37197664	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	16099873, 18977174		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	15191945, 21143381, 28419421		★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 13	Immunodeficiency	BEFREE	25733583		★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	BEFREE	16758339		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	10559240, 11369571, 17146684, 19228733, 24928989, 29400703, 30053428		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	10566730, 28333213		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	12970136, 37918715	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	11535630		★☆☆☆☆ Found in Text Mining only
Interleukin 2 Receptor Alpha Deficiency of	Interleukin 2 receptor deficiency	Pubtator	7508119	Inhibit	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	29115560	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	21733938	Stimulate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	22234746, 23954880, 30863079		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	11114713, 16569346		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	8816428		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	LHGDN	16494885		★☆☆☆☆ Found in Text Mining only
Leishmaniasis	Leishmaniasis	Pubtator	35572607	Associate	★☆☆☆☆ Found in Text Mining only
Leishmaniasis Cutaneous	Leishmaniasis	Pubtator	15716079	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	10903757, 34695167	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	10903757		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10477734, 11049967, 12176885, 15295005, 16413390, 20882050, 22139839, 9486984	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11175813, 16741250	Inhibit	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12176885, 16461788, 17893562, 18287027, 29805109, 30889381, 7505024, 9288724, 9486984		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	16741250		★☆☆☆☆ Found in Text Mining only
Leukemia Lymphoid	Lymphoid leukemia	Pubtator	7913843	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	15958635	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	21520003	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12423681, 21520003, 24141767		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	17258259		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	16311023, 18594157, 22322937, 31179555, 9030857, 9894727		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12527933, 23825554, 24992166, 29020665		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	11369571	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	21898485	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	34551597	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	LHGDN	18652769		★☆☆☆☆ Found in Text Mining only
Low Grade Lymphoma (neoplasm)	Low Grade Lymphoma	BEFREE	10595932		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	28030642	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	30784079		★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	12656310	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	30216085		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	14760083, 18548529		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	24173626		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28187172, 29565449	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	11604589, 11764210, 11987985, 12139375, 17947713, 19520616, 20506525, 23434382, 24117612, 24500400, 25352488, 28550400, 28793932, 8816428		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	10323442, 10510335, 11086108, 11226290, 11905840, 14962968, 16126793, 16221206, 17237447, 19180486, 19919693, 22952582, 23434382, 24117612, 24500400, 25652333, 26079624, 26474561, 26617807, 27699274, 28793932, 31431691, 31616406, 32576231, 33031316, 33407802, 34284675, 38018597, 38230454, 8621796, 8698875	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17469136, 17947713, 19520616, 20506525, 23029299, 25098715, 26395317	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	11604589, 11764210, 11987985, 12139375, 17947713, 19520616, 20506525, 23434382, 24117612, 24500400, 25352488, 28550400, 28793932, 8816428		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10342716, 10510335, 11226290, 11604589, 11764210, 11987985, 12115186, 12139375, 12673892, 12857968, 14962968, 15657613, 16126793, 16393964, 17211990, 17237447, 17469136, 17947713, 19520616, 20506525, 20585032, 21415255, 21914625, 22889643, 23340289, 23340290, 23434382, 24117612, 24500400, 25201689, 25352488, 25652333, 26289938, 26631756, 26936892, 27915349, 28421990, 28550400, 28793932, 28919518, 29127458, 30374748, 30919595, 31570051, 31808546, 8816428		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	16221206, 17103120, 17469136, 18260168		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus Nephritis	BEFREE	12584053, 18285351, 29127458, 30113724		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus Nephritis	LHGDN	14617752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus nephritis	Pubtator	15693003, 18285351, 20506525	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Vulgaris	Lupus Vulgaris	BEFREE	11604589, 11764210, 11987985, 12139375, 17947713, 19520616, 20506525, 23434382, 24117612, 24500400, 25352488, 28550400, 28793932, 8816428		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	29303623		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	10595932, 10979969, 11825564, 14511234, 16099873, 18287517, 9358761	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10666198, 11911421, 14562115, 15300803, 15360007, 16099873, 16508335, 17893562, 18287517, 25382101, 27452667, 28771100, 30889381, 8541553		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	23072591	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	18287517, 18606651, 22015774, 23686488, 7573367, 9858217	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	18287517, 9414291		★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	26196236		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	11477458, 18287517, 26196236, 9787177		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	LHGDN	16545138		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	11477458, 18287517, 26196236		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	12689942, 30626755		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	21669245		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	21543760	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	26903548		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	30823870	Stimulate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	29454857	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	18285351		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	16508921, 29367645		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	12676804		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10216096, 16794829, 19228733, 24773154, 30848201		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	12224026		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17675129, 20811715, 24173626, 25352298, 28187172, 29565449, 29568866		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	29761306		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27876704, 27906162		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10945499, 21379379, 24849040, 31430659		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	18373164		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	15753667		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	12224026, 24357147		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10856699, 11911421, 12224026, 12676804, 12718765, 14562115, 14647233, 16461788, 17989706, 18832685, 19461675, 19580345, 20448220, 20811715, 22229753, 22692727, 23000501, 24773154, 27697994, 27906162, 29040209, 29129918, 29800685, 30848201, 30925323		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11001366, 18603231, 27262846, 29155517		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	16508921, 29367645, 29872501		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	24631270		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	29223146	Inhibit	★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	29223146		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12192302		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12676804, 12947333, 20670430, 28427434		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23867552, 28427434, 30963193, 32246006, 32591862, 8952530	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	12676804		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29036612		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	18349065	Stimulate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	18349065, 20174757		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	28427434		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	30511624		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	35267244	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	LHGDN	12563087		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	15367912, 18481160, 31816620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	22645426, 27525421	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	14663101		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	11495701, 15871676, 19622582, 28232741, 7535594		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	11495701, 12139739, 29089645	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	10736102	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	10773848, 11839576, 11918631, 24751386, 24912008, 27339331, 28192476, 28284329, 28494768, 28619427, 29312317, 30471110, 31619767		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	11839576, 24751386, 31039804, 36250467, 9012830	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	11918631		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	39613182	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	25893403	Inhibit	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	25893403, 28822831		★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	12689942, 8541553	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	17805323		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	17805323		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	15103504, 17805323	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	11985663, 17901373, 20978895, 23166616	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	16627810, 18445609		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	21669245		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	29904400		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	36438903	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	22295117	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	10365667, 10415026, 10427977, 10918484, 10945499, 10980464, 11001366, 11129327, 11495701, 11896445, 12224026, 12527933, 12676804, 12684428, 14647233, 15753667, 17487280, 17675129, 17709483, 17989706, 18654609, 18832685, 19580345, 19622582, 20072155, 21415268, 22396493, 22402624, 22996231, 23000501, 23994887, 24305418, 24357147, 24773154, 24992166, 25108500, 25382101, 26561341, 27262846, 27906162, 29129918, 29565449, 29568866, 29626124, 29715163, 30082430, 30386680, 30617223, 30848201, 30889381, 31519562, 31695037, 8541553, 9763568		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	20506525, 30978213, 8816428		★☆☆☆☆ Found in Text Mining only
Nephritis Interstitial	Interstitial nephritis	Pubtator	18285351	Associate	★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	29805109		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	31352232	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	11959151		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	21958324	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11911421, 18606155		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	28687069	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	35267244	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21410936		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	29040209		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	28284329, 30408708		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	16311023, 18594157, 22322937, 31179555, 9030857, 9894727		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	36808635, 8669967, 9030857	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20811715, 23404288, 30078020		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	16448457		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35219585	Associate	★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	19755790	Associate	★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	BEFREE	22664165		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	20808842, 27795360, 28583714		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	17565609	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27876704, 27906162		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33180184	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	33180184	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	17805323		★☆☆☆☆ Found in Text Mining only
Paracoccidioidomycosis	Paracoccidioidomycosis	Pubtator	31572394	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	11902332	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	17258259	Inhibit	★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	36203615	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus Foliaceus	Pemphigus Foliaceus	BEFREE	19421221		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	27795360, 28583714, 29791566		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	LHGDN	16777115		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	35202564	Associate	★☆☆☆☆ Found in Text Mining only
Pleocytosis	CSF pleocytosis	BEFREE	28114998		★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	BEFREE	10366125		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	10444360, 10843719		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	16448457, 21898485, 29400703, 9819192		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	18955577, 21958324, 22193914, 29780795, 30660643, 31179555		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	16448457		★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	35202564	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10945499, 21379379, 24849040, 31430659		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21379379	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28267402, 8898941		★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	BEFREE	27324886		★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Pulmonary alveolar proteinosis	Pubtator	37173671	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	15302794		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	15708899	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	16135718, 33260035	Associate	★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma gangrenosum	Pubtator	24903614, 28518224	Associate	★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma gangrenosum	Pubtator	25501066	Stimulate	★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	BEFREE	28518224		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	31519562		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	12209602		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12224026, 23538518, 31519562		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	14693668		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	27324886, 31183658		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	37173671	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	29454857	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10366125, 11056676, 12223112, 12444176, 15248214, 15290728, 17393416, 17845713, 22889643, 23166616, 24764451, 25201689, 27915349, 28455435, 28837666, 28963582, 29391506, 30233580, 30402903, 30902820, 31183387, 31313080, 7633938, 9410920		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	33626956	Inhibit	★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic Perennial	Rhinitis	Pubtator	9119992	Stimulate	★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic Seasonal	Seasonal allergic rhinitis	Pubtator	24834772	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	21177920	Inhibit	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	34534436	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	30963193	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	33799006	Stimulate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	15708899	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	22231486, 26584613	Stimulate	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	18945879	Inhibit	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	23617547, 29956071		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	33743629	Associate	★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	7849738		★☆☆☆☆ Found in Text Mining only
Severe depression	Mental Depression	BEFREE	11206940		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	LHGDN	15315967		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	15315967	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	10340964, 11876766, 12472667, 33407802	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	24117612	Stimulate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	27461134	Inhibit	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	10903757, 28518224		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	32036486, 34239024	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	LHGDN	18812691, 18946203		★☆☆☆☆ Found in Text Mining only
Small Lymphocytic Lymphoma	Lymphocytic Leukemia	BEFREE	1175131, 8541553		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10980464, 28267402		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33134377, 36268020	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23000501		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29985430, 30096208		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18373164		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19865524	Associate	★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	19755790, 21733938, 21767237	Stimulate	★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	28518224		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	9410920	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	22231486, 22731751, 23415078, 31227855		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	8541553		★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	BEFREE	29985398		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	11493450, 14607202, 15315968, 17388962, 18086125, 20978895, 22992131, 37409530	Associate	★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	28192408		★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	20107176, 25576172, 25653477, 27612658, 27832278, 30452592		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	36438899	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	15753667		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	15753667		★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	15147360	Associate	★☆☆☆☆ Found in Text Mining only
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	12947333, 16537813		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	31069824	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	16149136		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	12592374	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	37970926	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis Anterior	Anterior uveitis	Pubtator	15948793	Stimulate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	11985663	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	18977174, 19282242, 27362307, 29319621		★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	10623647	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	27525421	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	28114998		★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	17408407	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	16317092	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	21415268, 26196236, 28771100		★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	29421274		★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	11987983		★☆☆☆☆ Found in Text Mining only
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	BEFREE	17553565		★☆☆☆☆ Found in Text Mining only
X-linked hyper-IgM syndrome	Hyper-IgM Syndrome, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-Linked Lymphoproliferative Disorder	Lymphoproliferative Syndrome, X-Linked	BEFREE	21996454		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

CD40 5 shared diseasesGraves disease, Hodgkin disease, Hyper-igm immunodeficiency syndrome, Hyper-immunoglobulin m syndrome, Kawasaki disease 16 shared pathwaysCytokine-cytokine receptor interaction, NF-kappa B signaling pathway, Cell adhesion molecules, Intestinal immune network for IgA production, Malaria, Toxoplasmosis, Asthma, Autoimmune thyroid disease, Systemic lupus erythematosus, Allograft rejection, Primary immunodeficiency, Viral myocarditis +4 more 9 shared evidence sourcesDisgenet (Systemic lupus erythematosus), Disgenet (Graves disease), CTD (Hodgkin disease), CTD (Hyper-igm immunodeficiency syndrome), Disgenet (Hyper-igm immunodeficiency syndrome), ClinGen (Hyper-igm immunodeficiency syndrome), ClinVar (Hyper-igm immunodeficiency syndrome), Disgenet (Hyper-immunoglobulin m syndrome), Disgenet (Kawasaki disease) Related via 16 shared pathways including Cytokine-cytokine receptor interaction, NF-kappa B signaling pathway — evidence mostly Disgenet. AICDA 3 shared diseasesAutoimmune disease, Hyper-igm immunodeficiency syndrome, Hyper-immunoglobulin m syndrome 2 shared pathwaysIntestinal immune network for IgA production, Primary immunodeficiency 8 shared evidence sourcesDisgenet (Ankylosing spondylitis), CTD (Autoimmune disease), CTD (Hyper-igm immunodeficiency syndrome), Disgenet (Hyper-igm immunodeficiency syndrome), ClinGen (Hyper-igm immunodeficiency syndrome), ClinVar (Hyper-igm immunodeficiency syndrome), GenCC (Hyper-igm immunodeficiency syndrome), Disgenet (Hyper-immunoglobulin m syndrome) Related via 3 shared diseases including Autoimmune disease, Hyper-igm immunodeficiency syndrome — evidence mostly Disgenet. IL4 3 shared diseasesAutoimmune disease, Graves disease, Hypersensitivity 6 shared pathwaysCytokine-cytokine receptor interaction, T cell receptor signaling pathway, Intestinal immune network for IgA production, Asthma, Autoimmune thyroid disease, Allograft rejection 6 shared evidence sourcesDisgenet (Ankylosing spondylitis), CTD (Autoimmune disease), Disgenet (Systemic lupus erythematosus), CTD (Systemic lupus erythematosus), Disgenet (Graves disease), CTD (Hypersensitivity) Related via 6 shared pathways including Cytokine-cytokine receptor interaction, T cell receptor signaling pathway — evidence mostly Disgenet. UNG 3 shared diseasesDysfibrinogenemia, Hyper-igm immunodeficiency syndrome, Hyper-immunoglobulin m syndrome 1 shared pathwayPrimary immunodeficiency 6 shared evidence sourcesDisgenet (Dysfibrinogenemia), CTD (Hyper-igm immunodeficiency syndrome), Disgenet (Hyper-igm immunodeficiency syndrome), ClinGen (Hyper-igm immunodeficiency syndrome), ClinVar (Hyper-igm immunodeficiency syndrome), Disgenet (Hyper-immunoglobulin m syndrome) Related via 3 shared diseases including Dysfibrinogenemia, Hyper-igm immunodeficiency syndrome — evidence mostly Disgenet. PDCD1 3 shared diseasesAutoimmune disease, Graves disease, Lupus nephritis 2 shared pathwaysCell adhesion molecules, T cell receptor signaling pathway 3 shared evidence sourcesDisgenet (Systemic lupus erythematosus), Disgenet (Graves disease), Disgenet (Lupus nephritis) Related via 3 shared diseases including Autoimmune disease, Graves disease — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CD40	5	["Graves disease","Hodgkin disease","Hyper-igm immunodeficiency syndrome","Hyper-immunoglobulin m syndrome","Kawasaki disease"]	16	["Cytokine-cytokine receptor interaction","NF-kappa B signaling pathway","Cell adhesion molecules","Intestinal immune network for IgA production","Malaria","Toxoplasmosis","Asthma","Autoimmune thyroid disease","Systemic lupus erythematosus","Allograft rejection","Primary immunodeficiency","Viral myocarditis"]	9	["Disgenet (Systemic lupus erythematosus)","Disgenet (Graves disease)","CTD (Hodgkin disease)","CTD (Hyper-igm immunodeficiency syndrome)","Disgenet (Hyper-igm immunodeficiency syndrome)","ClinGen (Hyper-igm immunodeficiency syndrome)","ClinVar (Hyper-igm immunodeficiency syndrome)","Disgenet (Hyper-immunoglobulin m syndrome)","Disgenet (Kawasaki disease)"]
AICDA	3	["Autoimmune disease","Hyper-igm immunodeficiency syndrome","Hyper-immunoglobulin m syndrome"]	2	["Intestinal immune network for IgA production","Primary immunodeficiency"]	8	["Disgenet (Ankylosing spondylitis)","CTD (Autoimmune disease)","CTD (Hyper-igm immunodeficiency syndrome)","Disgenet (Hyper-igm immunodeficiency syndrome)","ClinGen (Hyper-igm immunodeficiency syndrome)","ClinVar (Hyper-igm immunodeficiency syndrome)","GenCC (Hyper-igm immunodeficiency syndrome)","Disgenet (Hyper-immunoglobulin m syndrome)"]
IL4	3	["Autoimmune disease","Graves disease","Hypersensitivity"]	6	["Cytokine-cytokine receptor interaction","T cell receptor signaling pathway","Intestinal immune network for IgA production","Asthma","Autoimmune thyroid disease","Allograft rejection"]	6	["Disgenet (Ankylosing spondylitis)","CTD (Autoimmune disease)","Disgenet (Systemic lupus erythematosus)","CTD (Systemic lupus erythematosus)","Disgenet (Graves disease)","CTD (Hypersensitivity)"]
UNG	3	["Dysfibrinogenemia","Hyper-igm immunodeficiency syndrome","Hyper-immunoglobulin m syndrome"]	1	["Primary immunodeficiency"]	6	["Disgenet (Dysfibrinogenemia)","CTD (Hyper-igm immunodeficiency syndrome)","Disgenet (Hyper-igm immunodeficiency syndrome)","ClinGen (Hyper-igm immunodeficiency syndrome)","ClinVar (Hyper-igm immunodeficiency syndrome)","Disgenet (Hyper-immunoglobulin m syndrome)"]
PDCD1	3	["Autoimmune disease","Graves disease","Lupus nephritis"]	2	["Cell adhesion molecules","T cell receptor signaling pathway"]	3	["Disgenet (Systemic lupus erythematosus)","Disgenet (Graves disease)","Disgenet (Lupus nephritis)"]

Diseases Linked via Similar Genes

Asthma Linked via 2 of 5 related genesCD40, IL4 Hyper-immunoglobulin syndrome Linked via 2 of 5 related genesCD40, AICDA Multiple sclerosis Linked via 2 of 5 related genesCD40, IL4 Psoriasis Linked via 2 of 5 related genesCD40, IL4 Schizophrenia Linked via 2 of 5 related genesCD40, IL4

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Asthma	2	["CD40","IL4"]
Hyper-immunoglobulin syndrome	2	["CD40","AICDA"]
Multiple sclerosis	2	["CD40","IL4"]
Psoriasis	2	["CD40","IL4"]
Schizophrenia	2	["CD40","IL4"]