PTPRC (protein tyrosine phosphatase receptor type C)

Gene

• Entrez ID: 5788
• Gene name: Protein tyrosine phosphatase receptor type C
• Gene symbol: PTPRC
• Synonyms: B220, CD45, CD45R, GP180, IMD105, L-CA, LCA, LY5, T200
• Chromosome: 1
• Chromosome location: 1q31.3-q32.1
• Summary: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transforma

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs114970039	T>C	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs116464756	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs137869655	G>A,T	Likely-pathogenic	Genic downstream transcript variant, intron variant, splice donor variant
rs142941257	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs150672767	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs201715157	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, missense variant, coding sequence variant, genic downstream transcript variant
rs398122383	A>G,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained
rs1553243550	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1571865049	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1571880832	C>G	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1571880941	AG>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT722509	hsa-miR-4464	HITS-CLIP	19536157
MIRT722508	hsa-miR-4748	HITS-CLIP	19536157
MIRT722507	hsa-miR-4653-3p	HITS-CLIP	19536157
MIRT722506	hsa-miR-3198	HITS-CLIP	19536157
MIRT722505	hsa-miR-4309	HITS-CLIP	19536157
MIRT722504	hsa-miR-670-3p	HITS-CLIP	19536157
MIRT722503	hsa-miR-1238-3p	HITS-CLIP	19536157
MIRT722509	hsa-miR-4464	HITS-CLIP	19536157
MIRT722508	hsa-miR-4748	HITS-CLIP	19536157
MIRT722507	hsa-miR-4653-3p	HITS-CLIP	19536157
MIRT722506	hsa-miR-3198	HITS-CLIP	19536157
MIRT722505	hsa-miR-4309	HITS-CLIP	19536157
MIRT722504	hsa-miR-670-3p	HITS-CLIP	19536157
MIRT722503	hsa-miR-1238-3p	HITS-CLIP	19536157
MIRT1275993	hsa-miR-875-3p	CLIP-seq
MIRT2393256	hsa-miR-3161	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ESR2	Unknown	11517296

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000187	Process	Activation of MAPK activity	IEA
GO:0001779	Process	Natural killer cell differentiation	ISS
GO:0001915	Process	Negative regulation of T cell mediated cytotoxicity	ISS
GO:0001916	Process	Positive regulation of T cell mediated cytotoxicity	IEA
GO:0001960	Process	Negative regulation of cytokine-mediated signaling pathway	ISS
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IMP	21911094
GO:0002377	Process	Immunoglobulin production	IMP	1793833
GO:0002925	Process	Positive regulation of humoral immune response mediated by circulating immunoglobulin	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IBA	21873635
GO:0004725	Function	Protein tyrosine phosphatase activity	IDA	2853967
GO:0004725	Function	Protein tyrosine phosphatase activity	ISS
GO:0004725	Function	Protein tyrosine phosphatase activity	TAS	15095367
GO:0005001	Function	Transmembrane receptor protein tyrosine phosphatase activity	TAS	15557316
GO:0005102	Function	Signaling receptor binding	ISS
GO:0005515	Function	Protein binding	IPI	1970422, 7507203, 8576115, 10369126, 11909961, 12370829, 15946252, 19167335, 31980649
GO:0005886	Component	Plasma membrane	IDA	12354383
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	ISS
GO:0005925	Component	Focal adhesion	ISS
GO:0006469	Process	Negative regulation of protein kinase activity	IBA	21873635
GO:0006469	Process	Negative regulation of protein kinase activity	IDA	9197241
GO:0006469	Process	Negative regulation of protein kinase activity	ISS
GO:0006470	Process	Protein dephosphorylation	IBA	21873635
GO:0006470	Process	Protein dephosphorylation	ISS
GO:0006933	Process	Negative regulation of cell adhesion involved in substrate-bound cell migration	IMP	21911094
GO:0007159	Process	Leukocyte cell-cell adhesion	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	2845400
GO:0008201	Function	Heparin binding	IEA
GO:0009897	Component	External side of plasma membrane	IDA	17213291
GO:0009898	Component	Cytoplasmic side of plasma membrane	NAS	15661907
GO:0009986	Component	Cell surface	IDA	12100025, 12354383, 24337748
GO:0010332	Process	Response to gamma radiation	IEA
GO:0010468	Process	Regulation of gene expression	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	TAS	15095367
GO:0016032	Process	Viral process	IEA
GO:0016311	Process	Dephosphorylation	ISS
GO:0019901	Function	Protein kinase binding	IPI	14625311
GO:0030183	Process	B cell differentiation	ISS
GO:0030217	Process	T cell differentiation	ISS
GO:0030506	Function	Ankyrin binding	IPI	12354383
GO:0030507	Function	Spectrin binding	IDA	12354383
GO:0030667	Component	Secretory granule membrane	TAS
GO:0030890	Process	Positive regulation of B cell proliferation	IMP	1793833
GO:0031668	Process	Cellular response to extracellular stimulus	ISS
GO:0031953	Process	Negative regulation of protein autophosphorylation	IEA
GO:0032059	Component	Bleb	IDA	12354383
GO:0032677	Process	Regulation of interleukin-8 production	IDA	12100025
GO:0032703	Process	Negative regulation of interleukin-2 production	ISS
GO:0032743	Process	Positive regulation of interleukin-2 production	ISS
GO:0032760	Process	Positive regulation of tumor necrosis factor production	ISS
GO:0034113	Process	Heterotypic cell-cell adhesion	IEA
GO:0035335	Process	Peptidyl-tyrosine dephosphorylation	IEA
GO:0035584	Process	Calcium-mediated signaling using intracellular calcium source	ISS
GO:0042098	Process	T cell proliferation	IEA
GO:0042100	Process	B cell proliferation	ISS
GO:0042102	Process	Positive regulation of T cell proliferation	ISS
GO:0042110	Process	T cell activation	TAS	12354383
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0043395	Function	Heparan sulfate proteoglycan binding	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	ISS
GO:0044770	Process	Cell cycle phase transition	IMP	1793833
GO:0044855	Process	Plasma membrane raft distribution	ISS
GO:0045059	Process	Positive thymic T cell selection	IEA
GO:0045060	Process	Negative thymic T cell selection	IEA
GO:0045121	Component	Membrane raft	ISS
GO:0045588	Process	Positive regulation of gamma-delta T cell differentiation	IEA
GO:0045860	Process	Positive regulation of protein kinase activity	NAS	15275963
GO:0046425	Process	Regulation of receptor signaling pathway via JAK-STAT	IGI	12574355
GO:0046641	Process	Positive regulation of alpha-beta T cell proliferation	IEA
GO:0048304	Process	Positive regulation of isotype switching to IgG isotypes	IEA
GO:0048539	Process	Bone marrow development	IMP	21911094
GO:0048864	Process	Stem cell development	IMP	21911094
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	IBA	21873635
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	ISS
GO:0050764	Process	Regulation of phagocytosis	IDA	12100025
GO:0050852	Process	T cell receptor signaling pathway	IDA	10358156
GO:0050852	Process	T cell receptor signaling pathway	TAS	15557316
GO:0050853	Process	B cell receptor signaling pathway	ISS
GO:0050857	Process	Positive regulation of antigen receptor-mediated signaling pathway	ISS
GO:0051209	Process	Release of sequestered calcium ion into cytosol	ISS
GO:0051607	Process	Defense response to virus	ISS
GO:0051726	Process	Regulation of cell cycle	ISS
GO:0061097	Process	Regulation of protein tyrosine kinase activity	IDA	12100025
GO:0061099	Process	Negative regulation of protein tyrosine kinase activity	ISS
GO:0070062	Component	Extracellular exosome	HDA	12519789, 20458337
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	ISS
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	ISS
GO:0098857	Component	Membrane microdomain	ISS
GO:1903615	Process	Positive regulation of protein tyrosine phosphatase activity	ISS
GO:1903979	Process	Negative regulation of microglial cell activation	TAS	15095367
GO:1904155	Process	DN2 thymocyte differentiation	TAS	15557316
GO:1905451	Process	Positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis	ISS
GO:2000473	Process	Positive regulation of hematopoietic stem cell migration	IMP	21911094
GO:2000648	Process	Positive regulation of stem cell proliferation	IMP	21911094
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	IEA

Other IDs

• MIM: 151460
• HGNC: 9666
• e!Ensembl: ENSG00000081237

Protein

• UniProt ID: P08575
• Protein name: Receptor-type tyrosine-protein phosphatase C (EC 3.1.3.48) (Leukocyte common antigen) (L-CA) (T200) (CD antigen CD45)
• Protein function: Protein tyrosine-protein phosphatase required for T-cell activation through the antigen receptor (PubMed:35767951). Acts as a positive regulator of T-cell coactivation upon binding to DPP4. The first PTPase domain has enzymatic activity, while t
• PDB: 1YGR, 1YGU, 5FMV, 5FN6, 5FN7, 8VSE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12453	PTP_N	7 → 32	Protein tyrosine phosphatase N terminal	Family
  PF12567	CD45	237 → 295	Leukocyte receptor CD45	Family
  PF00041	fn3	392 → 466	Fibronectin type III domain	Domain
  PF00041	fn3	486 → 565	Fibronectin type III domain	Domain
  PF00102	Y_phosphatase	677 → 911	Protein-tyrosine phosphatase	Domain
  PF00102	Y_phosphatase	968 → 1227	Protein-tyrosine phosphatase	Domain

• Sequence:

  MTMYLWLKLLAFGFAFLDTEVFVTGQSPTPSPTGLTTAKMPSVPLSSDPLPTHTTAFSPA
  STFERENDFSETTTSLSPDNTSTQVSPDSLDNASAFNTTGVSSVQTPHLPTHADSQTPSA
  GTDTQTFSGSAANAKLNPTPGSNAISDVPGERSTASTFPTDPVSPLTTTLSLAHHSSAAL
  PARTSNTTITANTSDAYLNASETTTLSPSGSAVISTTTIATTPSKPTCDEKYANITVDYL
  YNKETKLFTAKLNVNENVECGNNTCTNNEVHNLTECKNASVSISHNSCTAPDKTLILDVP
  PGVEKFQLHDCTQVEKADTTICLKWKNIETFTCDTQNITYRFQCGNMIFDNKEIKLENLE
  PEHEYKCDSEILYNNHKFTNASKIIKTDFGSPGEPQIIFCRSEAAHQGVITWNPPQRSFH
  NFTLCYIKETEKDCLNLDKNLIKYDLQNLKPYTKYVLSLHAYIIAKVQRNGSAAMCHFTT
  KSAPPSQVWNMTVSMTSDNSMHVKCRPPRDRNGPHERYHLEVEAGNTLVRNESHKNCDFR
  VKDLQYSTDYTFKAYFHNGDYPGEPFILHHSTSYNSKALIAFLAFLIIVTSIALLVVLYK
  IYDLHKKRSCNLDEQQELVERDDEKQLMNVEPIHADILLETYKRKIADEGRLFLAEFQSI
  PRVFSKFPIKEARKPFNQNKNRYVDILPYDYNRVELSEINGDAGSNYINASYIDGFKEPR
  KYIAAQGPRDETVDDFWRMIWEQKATVIVMVTRCEEGNRNKCAEYWPSMEEGTRAFGDVV
  VKINQHKRCPDYIIQKLNIVNKKEKATGREVTHIQFTSWPDHGVPEDPHLLLKLRRRVNA
  FSNFFSGPIVVHCSAGVGRTGTYIGIDAMLEGLEAENKVDVYGYVVKLRRQRCLMVQVEA
  QYILIHQALVEYNQFGETEVNLSELHPYLHNMKKRDPPSEPSPLEAEFQRLPSYRSWRTQ
  HIGNQEENKSKNRNSNVIPYDYNRVPLKHELEMSKESEHDSDESSDDDSDSEEPSKYINA
  SFIMSYWKPEVMIAAQGPLKETIGDFWQMIFQRKVKVIVMLTELKHGDQEICAQYWGEGK
  QTYGDIEVDLKDTDKSSTYTLRVFELRHSKRKDSRTVYQYQYTNWSVEQLPAEPKELISM
  IQVVKQKLPQKNSSEGNKHHKSTPLLIHCRDGSQQTGIFCALLNLLESAETEEVVDIFQV
  VKALRKARPGMVSTFEQYQFLYDVIASTYPAQNGQVKKNNHQEDKIEFDNEVDKVKQDAN
  CVNPLGAPEKLPEAKEQAEGSEPTSGTEGPEHSVNGPASPALNQGS

• Sequence length: 1306

Pathways

KEGG:

Cell adhesion molecules
T cell receptor signaling pathway
Fc gamma R-mediated phagocytosis
Salmonella infection
Primary immunodeficiency

Reactome:

Phosphorylation of CD3 and TCR zeta chains
Other semaphorin interactions
Neutrophil degranulation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	30929738
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Combined immunodeficiency	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive	rs121908717, rs121908714, rs121908716, rs199422327, rs121908715, rs121908739, rs121908740, rs121908723, rs387906267, rs121908735, rs121908721, rs1194494050, rs2123516908, rs587776534, rs199422328, rs121908722, rs121908730, rs121908731, rs121908725, rs121908733, rs121908719, rs121908727, rs121908724, rs771266745, rs746052951, rs79281338, rs761242509, rs886041796, rs1057520217, rs751635016, rs763595926, rs778809577, rs780014431, rs1555845120, rs528390681, rs778343059, rs1555843178, rs766590645, rs1555844120, rs1312320956, rs1555844006, rs757796081, rs1555844395, rs1555844616, rs1555844617, rs749484894, rs751147673, rs1452483770, rs1568845361, rs758073965, rs1555844600, rs1209280928, rs1600921786, rs2065317387, rs2065325961, rs1225623204, rs1233957241, rs763478578	11145714, 10700239
Lymphoblastic leukemia	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29610475
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	23143596, 20453842
Severe combined immunodeficiency disease	Severe Combined Immunodeficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005	22689986

Unknown
Disease name	Disease term	dbSNP ID	References
Cd45 deficiency	T-B+ severe combined immunodeficiency due to CD45 deficiency
Digestive system neuroendocrine neoplasm	Gastro-enteropancreatic neuroendocrine tumor		29915428
Eczema	Eczema		30595370
Nonorganic psychosis	Nonorganic psychosis		24246416
Omenn syndrome	Omenn Syndrome		22689986
Oral ulcer	Oral Ulcer
Otitis media	Otitis Media	rs601338, rs1047781, rs1800028
Prostatic neoplasms	Prostatic Neoplasms		29610475
Psychosis	Psychotic Disorders		24246416
Respiratory tract diseases	Respiratory Tract Diseases		30595370
Retinal diseases	Retinal Diseases		19324842
Ulcerative colitis	Ulcerative Colitis		24837172
Vitiligo	Vitiligo		27723757