CD81 (CD81 molecule)

Gene

• Entrez ID: 975
• Gene name: CD81 molecule
• Gene symbol: CD81
• Synonyms (NCBI Gene): CVID6, S5.7, TAPA1, TSPAN28
• Chromosome: 11
• Chromosome location: 11p15.5
• Summary: The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776775	G>A	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020808	hsa-miR-155-5p	Proteomics	18668040
MIRT052151	hsa-let-7b-5p	CLASH	23622248
MIRT039120	hsa-miR-769-3p	CLASH	23622248
MIRT038125	hsa-miR-423-5p	CLASH	23622248
MIRT052737	hsa-miR-1260b	CLASH	23622248
MIRT332492	hsa-miR-6768-5p	PAR-CLIP	20371350
MIRT332487	hsa-miR-3937	PAR-CLIP	20371350
MIRT332490	hsa-miR-4672	PAR-CLIP	20371350
MIRT332491	hsa-miR-4789-5p	PAR-CLIP	20371350
MIRT479638	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT332492	hsa-miR-6768-5p	PAR-CLIP	20371350
MIRT332490	hsa-miR-4672	PAR-CLIP	20371350
MIRT332491	hsa-miR-4789-5p	PAR-CLIP	20371350
MIRT479638	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT332492	hsa-miR-6768-5p	PAR-CLIP	20371350
MIRT332490	hsa-miR-4672	PAR-CLIP	20371350
MIRT332491	hsa-miR-4789-5p	PAR-CLIP	20371350
MIRT479638	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT332492	hsa-miR-6768-5p	PAR-CLIP	23446348
MIRT332490	hsa-miR-4672	PAR-CLIP	23446348
MIRT332491	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT479638	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT332492	hsa-miR-6768-5p	PAR-CLIP	23592263
MIRT332490	hsa-miR-4672	PAR-CLIP	23592263
MIRT332491	hsa-miR-4789-5p	PAR-CLIP	23592263
MIRT479638	hsa-miR-190a-3p	PAR-CLIP	23592263
MIRT180201	hsa-miR-582-5p	PAR-CLIP	23592263
MIRT479637	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT479636	hsa-miR-8080	PAR-CLIP	23592263
MIRT479635	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT180203	hsa-miR-1265	PAR-CLIP	23592263
MIRT180207	hsa-miR-6504-3p	PAR-CLIP	23592263
MIRT479634	hsa-miR-605-3p	PAR-CLIP	23592263
MIRT479633	hsa-miR-4493	PAR-CLIP	23592263
MIRT332514	hsa-miR-5702	PAR-CLIP	23592263
MIRT332510	hsa-miR-3152-3p	PAR-CLIP	23592263
MIRT332515	hsa-miR-6126	PAR-CLIP	23592263
MIRT479632	hsa-miR-6864-5p	PAR-CLIP	23592263
MIRT180208	hsa-miR-8070	PAR-CLIP	23592263
MIRT732965	hsa-miR-559	qRT-PCR	33788641
MIRT332492	hsa-miR-6768-5p	PAR-CLIP	20371350
MIRT332487	hsa-miR-3937	PAR-CLIP	20371350
MIRT332490	hsa-miR-4672	PAR-CLIP	20371350
MIRT332491	hsa-miR-4789-5p	PAR-CLIP	20371350
MIRT479638	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT332492	hsa-miR-6768-5p	PAR-CLIP	20371350
MIRT332490	hsa-miR-4672	PAR-CLIP	20371350
MIRT332491	hsa-miR-4789-5p	PAR-CLIP	20371350
MIRT479638	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT332492	hsa-miR-6768-5p	PAR-CLIP	20371350
MIRT332490	hsa-miR-4672	PAR-CLIP	20371350
MIRT332491	hsa-miR-4789-5p	PAR-CLIP	20371350
MIRT479638	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT332492	hsa-miR-6768-5p	PAR-CLIP	23446348
MIRT332490	hsa-miR-4672	PAR-CLIP	23446348
MIRT332491	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT479638	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT332492	hsa-miR-6768-5p	PAR-CLIP	23592263
MIRT332490	hsa-miR-4672	PAR-CLIP	23592263
MIRT332491	hsa-miR-4789-5p	PAR-CLIP	23592263
MIRT479638	hsa-miR-190a-3p	PAR-CLIP	23592263
MIRT180201	hsa-miR-582-5p	PAR-CLIP	23592263
MIRT479637	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT479636	hsa-miR-8080	PAR-CLIP	23592263
MIRT479635	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT180203	hsa-miR-1265	PAR-CLIP	23592263
MIRT180207	hsa-miR-6504-3p	PAR-CLIP	23592263
MIRT479634	hsa-miR-605-3p	PAR-CLIP	23592263
MIRT479633	hsa-miR-4493	PAR-CLIP	23592263
MIRT332514	hsa-miR-5702	PAR-CLIP	23592263
MIRT332510	hsa-miR-3152-3p	PAR-CLIP	23592263
MIRT332515	hsa-miR-6126	PAR-CLIP	23592263
MIRT479632	hsa-miR-6864-5p	PAR-CLIP	23592263
MIRT180208	hsa-miR-8070	PAR-CLIP	23592263
MIRT876217	hsa-miR-194	CLIP-seq
MIRT876218	hsa-miR-2467-3p	CLIP-seq
MIRT876219	hsa-miR-3158-5p	CLIP-seq
MIRT876220	hsa-miR-339-5p	CLIP-seq
MIRT876221	hsa-miR-3646	CLIP-seq
MIRT876222	hsa-miR-3678-3p	CLIP-seq
MIRT876223	hsa-miR-3714	CLIP-seq
MIRT876224	hsa-miR-4257	CLIP-seq
MIRT876225	hsa-miR-4278	CLIP-seq
MIRT876226	hsa-miR-4313	CLIP-seq
MIRT876227	hsa-miR-4418	CLIP-seq
MIRT876228	hsa-miR-4477a	CLIP-seq
MIRT876229	hsa-miR-4669	CLIP-seq
MIRT876230	hsa-miR-4716-3p	CLIP-seq
MIRT876231	hsa-miR-509-3-5p	CLIP-seq
MIRT876232	hsa-miR-509-5p	CLIP-seq
MIRT876233	hsa-miR-548ag	CLIP-seq
MIRT876234	hsa-miR-548ai	CLIP-seq
MIRT876235	hsa-miR-548m	CLIP-seq
MIRT876236	hsa-miR-552	CLIP-seq
MIRT876237	hsa-miR-764	CLIP-seq
MIRT1546287	hsa-miR-1915	CLIP-seq
MIRT876217	hsa-miR-194	CLIP-seq
MIRT1546288	hsa-miR-298	CLIP-seq
MIRT1546289	hsa-miR-3620	CLIP-seq
MIRT1546290	hsa-miR-3649	CLIP-seq
MIRT1546291	hsa-miR-3663-3p	CLIP-seq
MIRT876223	hsa-miR-3714	CLIP-seq
MIRT1546292	hsa-miR-4292	CLIP-seq
MIRT1546293	hsa-miR-4436b-3p	CLIP-seq
MIRT1546294	hsa-miR-4501	CLIP-seq
MIRT1546295	hsa-miR-4685-5p	CLIP-seq
MIRT1546296	hsa-miR-4690-3p	CLIP-seq
MIRT876233	hsa-miR-548ag	CLIP-seq
MIRT876234	hsa-miR-548ai	CLIP-seq
MIRT876235	hsa-miR-548m	CLIP-seq
MIRT876236	hsa-miR-552	CLIP-seq
MIRT876237	hsa-miR-764	CLIP-seq
MIRT1959683	hsa-miR-1237	CLIP-seq
MIRT1959684	hsa-miR-1248	CLIP-seq
MIRT876217	hsa-miR-194	CLIP-seq
MIRT876218	hsa-miR-2467-3p	CLIP-seq
MIRT876219	hsa-miR-3158-5p	CLIP-seq
MIRT1959685	hsa-miR-3607-5p	CLIP-seq
MIRT1546289	hsa-miR-3620	CLIP-seq
MIRT876221	hsa-miR-3646	CLIP-seq
MIRT1546291	hsa-miR-3663-3p	CLIP-seq
MIRT876222	hsa-miR-3678-3p	CLIP-seq
MIRT876223	hsa-miR-3714	CLIP-seq
MIRT876224	hsa-miR-4257	CLIP-seq
MIRT876225	hsa-miR-4278	CLIP-seq
MIRT876226	hsa-miR-4313	CLIP-seq
MIRT1959686	hsa-miR-4326	CLIP-seq
MIRT876227	hsa-miR-4418	CLIP-seq
MIRT876228	hsa-miR-4477a	CLIP-seq
MIRT1546294	hsa-miR-4501	CLIP-seq
MIRT1959687	hsa-miR-4666-5p	CLIP-seq
MIRT876229	hsa-miR-4669	CLIP-seq
MIRT1546296	hsa-miR-4690-3p	CLIP-seq
MIRT876230	hsa-miR-4716-3p	CLIP-seq
MIRT876231	hsa-miR-509-3-5p	CLIP-seq
MIRT876232	hsa-miR-509-5p	CLIP-seq
MIRT876233	hsa-miR-548ag	CLIP-seq
MIRT876234	hsa-miR-548ai	CLIP-seq
MIRT876235	hsa-miR-548m	CLIP-seq
MIRT876236	hsa-miR-552	CLIP-seq
MIRT876237	hsa-miR-764	CLIP-seq
MIRT1546287	hsa-miR-1915	CLIP-seq
MIRT876217	hsa-miR-194	CLIP-seq
MIRT1546288	hsa-miR-298	CLIP-seq
MIRT1959685	hsa-miR-3607-5p	CLIP-seq
MIRT1546290	hsa-miR-3649	CLIP-seq
MIRT1546293	hsa-miR-4436b-3p	CLIP-seq
MIRT1546294	hsa-miR-4501	CLIP-seq
MIRT1546295	hsa-miR-4685-5p	CLIP-seq
MIRT1546296	hsa-miR-4690-3p	CLIP-seq
MIRT876233	hsa-miR-548ag	CLIP-seq
MIRT876234	hsa-miR-548ai	CLIP-seq
MIRT876235	hsa-miR-548m	CLIP-seq
MIRT1959683	hsa-miR-1237	CLIP-seq
MIRT1959684	hsa-miR-1248	CLIP-seq
MIRT1959686	hsa-miR-4326	CLIP-seq
MIRT876221	hsa-miR-3646	CLIP-seq
MIRT876226	hsa-miR-4313	CLIP-seq
MIRT876228	hsa-miR-4477a	CLIP-seq
MIRT2436195	hsa-miR-3160-3p	CLIP-seq
MIRT2436196	hsa-miR-3944-5p	CLIP-seq
MIRT2436197	hsa-miR-4459	CLIP-seq
MIRT2436198	hsa-miR-4487	CLIP-seq
MIRT2436199	hsa-miR-4638-5p	CLIP-seq
MIRT2436200	hsa-miR-4655-5p	CLIP-seq
MIRT2436201	hsa-miR-4722-5p	CLIP-seq
MIRT2436202	hsa-miR-4761-5p	CLIP-seq
MIRT2436203	hsa-miR-4779	CLIP-seq
MIRT2436204	hsa-miR-4792	CLIP-seq
MIRT2436205	hsa-miR-486-3p	CLIP-seq
MIRT2436206	hsa-miR-558	CLIP-seq
MIRT2436207	hsa-miR-624	CLIP-seq
MIRT2436195	hsa-miR-3160-3p	CLIP-seq
MIRT2436196	hsa-miR-3944-5p	CLIP-seq
MIRT2436197	hsa-miR-4459	CLIP-seq
MIRT2436198	hsa-miR-4487	CLIP-seq
MIRT2436199	hsa-miR-4638-5p	CLIP-seq
MIRT2436200	hsa-miR-4655-5p	CLIP-seq
MIRT1546296	hsa-miR-4690-3p	CLIP-seq
MIRT2677771	hsa-miR-4700-3p	CLIP-seq
MIRT2436201	hsa-miR-4722-5p	CLIP-seq
MIRT2436202	hsa-miR-4761-5p	CLIP-seq
MIRT2436203	hsa-miR-4779	CLIP-seq
MIRT2436204	hsa-miR-4792	CLIP-seq
MIRT2436205	hsa-miR-486-3p	CLIP-seq
MIRT2436206	hsa-miR-558	CLIP-seq
MIRT2436207	hsa-miR-624	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001618	Function	Virus receptor activity	IEA
GO:0001618	Function	Virus receptor activity	IMP	20375010
GO:0001771	Process	Immunological synapse formation	IMP	23858057
GO:0001772	Component	Immunological synapse	IDA	21930792, 23858057
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002455	Process	Humoral immune response mediated by circulating immunoglobulin	IMP	20237408
GO:0002863	Process	Positive regulation of inflammatory response to antigenic stimulus	IEA
GO:0002863	Process	Positive regulation of inflammatory response to antigenic stimulus	ISS
GO:0005178	Function	Integrin binding	IDA	12796480, 27993971
GO:0005515	Function	Protein binding	IPI	2398277, 8409388, 9168119, 9794763, 10400713, 11504738, 12522210, 12604806, 12796480, 14676841, 19088272, 19587294, 20375010, 21930792, 23091066, 23858057, 26354436, 26686862, 26808496, 28871089, 30024968, 32296183, 32900848
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	8409388, 14676841, 20237408, 22307619, 26354436
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0008289	Function	Lipid binding	IEA
GO:0009925	Component	Basal plasma membrane	IDA	31791063
GO:0014905	Process	Myoblast fusion involved in skeletal muscle regeneration	IEA
GO:0014905	Process	Myoblast fusion involved in skeletal muscle regeneration	ISS
GO:0015485	Function	Cholesterol binding	IDA	27881302
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	27881302
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	20375010
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0023026	Function	MHC class II protein complex binding	HDA	20458337
GO:0030890	Process	Positive regulation of B cell proliferation	IDA	10400713
GO:0031623	Process	Receptor internalization	IEA
GO:0031623	Process	Receptor internalization	ISS
GO:0031647	Process	Regulation of protein stability	IMP	25635054
GO:0031982	Component	Vesicle	IDA	9360996
GO:0034238	Process	Macrophage fusion	IDA	12796480
GO:0034238	Process	Macrophage fusion	IEA
GO:0035783	Process	CD4-positive, alpha-beta T cell costimulation	IDA	22307619
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042289	Function	MHC class II protein binding	IDA	8409388
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	14676841
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	25635054
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0050861	Process	Positive regulation of B cell receptor signaling pathway	IEA
GO:0050861	Process	Positive regulation of B cell receptor signaling pathway	IMP	20237408
GO:0050861	Process	Positive regulation of B cell receptor signaling pathway	ISS
GO:0050862	Process	Positive regulation of T cell receptor signaling pathway	IMP	23858057
GO:0050871	Process	Positive regulation of B cell activation	IEA
GO:0061462	Process	Protein localization to lysosome	IMP	25635054
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0070062	Component	Extracellular exosome	IDA	15908444, 19028452, 21235781, 21276792, 30871575
GO:0070863	Process	Positive regulation of protein exit from endoplasmic reticulum	IMP	16449649
GO:0071404	Process	Cellular response to low-density lipoprotein particle stimulus	IEA
GO:0071404	Process	Cellular response to low-density lipoprotein particle stimulus	ISS
GO:0072659	Process	Protein localization to plasma membrane	IDA	14676841, 27881302
GO:0072659	Process	Protein localization to plasma membrane	IMP	20237408
GO:0072675	Process	Osteoclast fusion	IEA
GO:0072675	Process	Osteoclast fusion	ISS
GO:0097197	Component	Tetraspanin-enriched microdomain	IDA	28871089
GO:1903911	Process	Positive regulation of receptor clustering	IDA	23858057
GO:1903911	Process	Positive regulation of receptor clustering	IEA
GO:1904352	Process	Positive regulation of protein catabolic process in the vacuole	IMP	25635054
GO:1905521	Process	Regulation of macrophage migration	IEA
GO:1905521	Process	Regulation of macrophage migration	ISS
GO:1905676	Process	Positive regulation of adaptive immune memory response	IMP	20237408
GO:1990459	Function	Transferrin receptor binding	IPI	25635054
GO:2000145	Process	Regulation of cell motility	IEA
GO:2000553	Process	Positive regulation of T-helper 2 cell cytokine production	IDA	8766544
GO:2000553	Process	Positive regulation of T-helper 2 cell cytokine production	IEA
GO:2000563	Process	Positive regulation of CD4-positive, alpha-beta T cell proliferation	IDA	22307619
GO:2001190	Process	Positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	IDA	8766544
GO:2001190	Process	Positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	IEA

Other IDs

• MIM: 186845
• HGNC: 1701
• e!Ensembl: ENSG00000110651

Protein

• UniProt ID: P60033
• Protein name: CD81 antigen (26 kDa cell surface protein TAPA-1) (Target of the antiproliferative antibody 1) (Tetraspanin-28) (Tspan-28) (CD antigen CD81)
• Protein function: Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Essential for trafficking and compartmentalization of CD19 receptor on th
• PDB: 1G8Q, 1IV5, 3X0E, 5DFV, 5DFW, 5M2C, 5M33, 5M3D, 5M3T, 5M4R, 5TCX, 6EJG, 6EJM, 6EK2, 6U9S, 7JIC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00335	Tetraspanin	10 → 229	Tetraspanin family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed on B cells (at protein level) (PubMed:20237408). Expressed in hepatocytes (at protein level) (PubMed:12483205). Expressed in monocytes/macrophages (at protein level) (PubMed:12796480). Expressed on both naive and memory CD4-p
• Sequence:

  MGVEGCTKCIKYLLFVFNFVFWLAGGVILGVALWLRHDPQTTNLLYLELGDKPAPNTFYV
  GIYILIAVGAVMMFVGFLGCYGAIQESQCLLGTFFTCLVILFACEVAAGIWGFVNKDQIA
  KDVKQFYDQALQQAVVDDDANNAKAVVKTFHETLDCCGSSTLTALTTSVLKNNLCPSGSN
  IISNLFKEDCHQKIDDLFSGKLYLIGIAAIVVAVIMIFEMILSMVLCCGIRNSSVY

• Sequence length: 236

Pathways

KEGG:

Virion - Hepatitis viruses
B cell receptor signaling pathway
Malaria
Hepatitis C

Reactome:

Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Regulation of Complement cascade

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
CD81-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY PHENOTYPE DUE TO CD19/CD81 DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS C	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency, common variable, 6	Uncertain significance; Likely benign; no classifications from unflagged records; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	23762099	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Antibody Deficiency Syndrome	Antibody Deficiency Syndrome	BEFREE	20237408		★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30498763		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	36826611	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	24650279	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30498763		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	11985527	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	27860532		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31123084, 31171705		★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	10907850		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	30680751, 31569672		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31501803		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30117494, 31221721		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22791584, 30117494, 35157300, 35579189	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	28509416		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	28509416, 9737661	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22577054, 29577937, 32322956	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32350244	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	31501803		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34065085	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	29572511		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29572511		★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis Familial	Cirrhosis	Pubtator	30889491	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31402975		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	17959672	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22895844		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22895844	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	21905497		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	21905497, 33859323	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Variable Immunodeficiency	Common Variable Immunodeficiency	ORPHANET_DG	21970952		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common variable immunodeficiency	Common Variable Immunodeficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Variable Immunodeficiency	Common Variable Immunodeficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital thrombotic disease due to Protein C deficiency	Congenital thrombotic thrombocytopenic purpura	Pubtator	26666746	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30059939		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35370940	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28254843	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	28254843		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	16112004		★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia verruciformis	Pubtator	35012489, 37251406	Associate	★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	30680751		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	22355327		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	33788641	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	22672670	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	31077558		★☆☆☆☆ Found in Text Mining only
Hairy cell leukemia variant	Hairy Cell Leukemia	BEFREE	31077558		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	27860532		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	16339892	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	11985527, 17177963	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatitis C	Hepatitis c	Pubtator	12626604, 16339892, 18000990, 19357163, 19780859, 20375010, 22577054, 23954883, 29577937, 32322956	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogammaglobulinemia	Hypogammaglobulinemia	GENOMICS_ENGLAND_DG	27250108		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34907783	Inhibit	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	31794019		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	HPO_DG			★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY, COMMON VARIABLE, 6	Common variable immunodeficiency	GENOMICS_ENGLAND_DG	27250108		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunoglobulin Deficiency, Late-Onset	Immunoglobulin Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	20237408	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	31077558	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27566555, 37845689	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27566555		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11115611, 11130883, 12210407, 18466772, 19476617, 23626783, 29577937, 31755827		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12210407, 18466772		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	19476617, 23626783		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34684727	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30117494	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	20004001	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	15956553	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	17177963, 31755827		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	17177963	Stimulate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30059939		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30117494, 31221721		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30680751, 31569672		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	24733393		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23264205		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31501803		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11115611, 28408492, 31786017		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31402975		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24733393, 25656846		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24733393, 27818281, 39222576	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	24612434		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30059939		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	26498453	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	16113057, 17210782, 22333880, 26666746, 27479184, 30358164		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	19755988, 26666746, 27479184, 30358164, 38280104, 39493694	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11739177, 15931266, 21206492, 22672670, 23264205, 24645750, 28408492, 31494861, 31755827		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	12497591, 23472067	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12767104, 30714554		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12851318		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31494861		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	30825338		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	30825338		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	31066205		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30680751, 31569672		★☆☆☆☆ Found in Text Mining only
Recurrent bronchitis	Bronchitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	37603355	Associate	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	17458880, 34898369	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23264205		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	23264205		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25915404, 31501803	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only