CD81 (CD81 molecule)

Gene

• Entrez ID: 975
• Gene name: CD81 molecule
• Gene symbol: CD81
• Synonyms: 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:0000187	Process	Activation of MAPK activity	IDA	14676841
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:0002455	Process	Humoral immune response mediated by circulating immunoglobulin	IMP	20237408
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, 26686862, 26808496, 28871089, 30024968, 32296183, 32900848
GO:0005886	Component	Plasma membrane	IDA	8409388, 22307619
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IDA	14676841, 20237408
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0008104	Process	Protein localization	IDA	14676841
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	14676841
GO:0009925	Component	Basal plasma membrane	IDA	31791063
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:0016021	Component	Integral component of membrane	IDA	27881302
GO:0016323	Component	Basolateral plasma membrane	IDA	20375010
GO:0023026	Function	MHC class II protein complex binding	HDA	20458337
GO:0030449	Process	Regulation of complement activation	TAS
GO:0030890	Process	Positive regulation of B cell proliferation	IDA	10400713
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:0035783	Process	CD4-positive, alpha-beta T cell costimulation	IDA	22307619
GO:0042289	Function	MHC class II protein binding	IDA	8409388
GO:0043128	Process	Positive regulation of 1-phosphatidylinositol 4-kinase activity	IDA	14676841
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	25635054
GO:0046718	Process	Viral entry into host cell	TAS	14676841
GO:0046813	Process	Receptor-mediated virion attachment to host cell	TAS	14676841
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	IDA	14676841
GO:0050776	Process	Regulation of immune response	TAS
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: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	ISS
GO:0072659	Process	Protein localization to plasma membrane	IDA	27881302
GO:0072659	Process	Protein localization to plasma membrane	IMP	20237408
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:1904352	Process	Positive regulation of protein catabolic process in the vacuole	IMP	25635054
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:2000553	Process	Positive regulation of T-helper 2 cell cytokine production	IDA	8766544
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

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

• 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

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia, Hemolytic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Bronchiectasis	Bronchiectasis	rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Common variable immunodeficiency	Common Variable Immunodeficiency, Acquired Hypogammaglobulinemia, IMMUNODEFICIENCY, COMMON VARIABLE, 6	rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113, rs1553319504, rs201017642, rs1555550717, rs1558192723, rs1030733127, rs749636258, rs185689791, rs1559035937, rs1565214594, rs1560679469, rs1560711146, rs1569376229, rs1578790573, rs939459600, rs1572952530, rs1572950925, rs772481080, rs369363360, rs72553885, rs72553879, rs1265262160, rs1303637368, rs757598952, rs1016142312, rs1578771120, rs1578771197, rs1578793298, rs1578793312, rs1578809101, rs1578811073, rs1590715754, rs144718007, rs759649059, rs1723945421, rs2061279365	21970952, 27250108
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	28254843
Gastrointestinal stromal tumor	Gastrointestinal Stromal Tumors	rs587776653, rs74315368, rs74315369, rs587776793, rs587776794, rs587776795, rs606231209, rs121908589, rs121913685, rs121913680, rs794726675, rs587776804, rs121913517, rs121913234, rs121913512, rs267607032, rs387906780, rs201286421, rs587778661, rs587781270, rs587782243, rs74315370, rs587782703, rs786203457, rs764575966, rs786203251, rs587782604, rs200245469, rs397516836, rs786202732, rs786201161, rs786201063, rs751000085, rs869025568, rs876660642, rs876658713, rs151170408, rs878854632, rs752360961, rs121913235, rs121913521, rs121913513, rs1057519708, rs1057519710, rs121913514, rs1057519713, rs778582853, rs1060503757, rs1060502521, rs1060502543, rs898854295, rs981049067, rs916516745, rs1553887262, rs1057520032, rs1553887960, rs775143272, rs1560395607, rs1560418178, rs751904543, rs1560420761, rs1560417385, rs1560417396, rs1560417427, rs1560417438, rs1560417535, rs1560417642, rs1560417666, rs1560417673, rs1577992594, rs1577995761, rs1578003055, rs1301704156, rs1734957331
Glomerulonephritis	Glomerulonephritis	rs778043831
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044
Vasculitis	Vasculitis	rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054

Unknown
Disease name	Disease term	dbSNP ID	References
Brachycephaly	Brachycephaly
Bronchitis	Recurrent bronchitis
Hypogammaglobulinemia	Hypogammaglobulinemia		27250108
Immune thrombocytopenic purpura	Immune thrombocytopenic purpura
Immunoglobulin deficiency	Immunoglobulin Deficiency, Late-Onset
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Imperforate anus	Anus, Imperforate
Lymphopenia	Lymphopenia
Otitis media	Chronic otitis media	rs601338, rs1047781, rs1800028