GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

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HLA-DRB1 (major histocompatibility complex, class II, DR beta 1)

Gene

3123

Major histocompatibility complex, class II, DR beta 1

HLA-DRB1

DRB1, HLA-DR1B, HLA-DRB, SS1

6p21.32

HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derive

Show/Hide all(42)

miRTarBase ID	miRNA	Experiments	Reference
MIRT646417	hsa-miR-5692a	HITS-CLIP	23824327
MIRT646416	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT646415	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT646414	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT646413	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT646412	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT646411	hsa-miR-3148	HITS-CLIP	23824327
MIRT646410	hsa-miR-6124	HITS-CLIP	23824327
MIRT646409	hsa-miR-5696	HITS-CLIP	23824327
MIRT646408	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT646407	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT646406	hsa-miR-623	HITS-CLIP	23824327
MIRT646405	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT646404	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT646403	hsa-miR-3978	HITS-CLIP	23824327
MIRT646402	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT646401	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT646400	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT646417	hsa-miR-5692a	HITS-CLIP	23824327
MIRT646416	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT646415	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT646414	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT646413	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT646412	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT646411	hsa-miR-3148	HITS-CLIP	23824327
MIRT646410	hsa-miR-6124	HITS-CLIP	23824327
MIRT646409	hsa-miR-5696	HITS-CLIP	23824327
MIRT646408	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT646407	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT646406	hsa-miR-623	HITS-CLIP	23824327
MIRT646405	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT646404	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT646403	hsa-miR-3978	HITS-CLIP	23824327
MIRT646402	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT646401	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT646400	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT1048458	hsa-miR-4793-5p	CLIP-seq
MIRT1048459	hsa-miR-518a-5p	CLIP-seq
MIRT1048460	hsa-miR-527	CLIP-seq
MIRT2243303	hsa-miR-486-3p	CLIP-seq
MIRT1048459	hsa-miR-518a-5p	CLIP-seq
MIRT1048460	hsa-miR-527	CLIP-seq

Transcription factors

Show/Hide all(6)

Transcription factor	Regulation	Reference
CIITA	Unknown	10886240
ILF3	Unknown	7651394
RFX5	Unknown	11258423;18723135
RFXANK	Unknown	11258423
RFXAP	Unknown	11258423;18723135
VDR	Unknown	19956544

Show/Hide all(76)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001772	Component	Immunological synapse	IDA	15322540, 29884618
GO:0001916	Process	Positive regulation of T cell mediated cytotoxicity	IDA	29884618
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	24942581
GO:0002381	Process	Immunoglobulin production involved in immunoglobulin-mediated immune response	IDA	17050030
GO:0002437	Process	Inflammatory response to antigenic stimulus	IDA	15795121
GO:0002455	Process	Humoral immune response mediated by circulating immunoglobulin	IDA	17050030
GO:0002469	Process	Myeloid dendritic cell antigen processing and presentation	IDA	29884618, 30282837
GO:0002491	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class II	IDA	15322540
GO:0002503	Process	Peptide antigen assembly with MHC class II protein complex	IDA	1448172, 7606781, 22733780
GO:0002842	Process	Positive regulation of T cell mediated immune response to tumor cell	IDA	30282837
GO:0002862	Process	Negative regulation of inflammatory response to antigenic stimulus	IDA	18039812
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	1281771
GO:0005515	Function	Protein binding	IPI	9354468, 17357109, 21081917, 24428437, 27114505
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005765	Component	Lysosomal membrane	IDA	9075930, 18305173
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005882	Component	Intermediate filament	TAS	1281771
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	3456344, 10425186
GO:0006955	Process	Immune response	IDA	20543955, 21569485
GO:0006955	Process	Immune response	IMP	22321387
GO:0006955	Process	Immune response	NAS	3129499
GO:0006955	Process	Immune response	TAS	10609818
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007165	Process	Signal transduction	IMP	15795121
GO:0007165	Process	Signal transduction	NAS	8775462
GO:0008544	Process	Epidermis development	TAS	7539673
GO:0009897	Component	External side of plasma membrane	IDA	20543955
GO:0009986	Component	Cell surface	IDA	21502329
GO:0012507	Component	ER to Golgi transport vesicle membrane	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	NAS	3129499
GO:0016020	Component	Membrane	TAS	11144299
GO:0016045	Process	Detection of bacterium	IMP	22321387
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	IDA	15265931, 32341563
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS
GO:0023026	Function	MHC class II protein complex binding	HDA	20458337
GO:0030225	Process	Macrophage differentiation	IDA	24942581
GO:0030247	Function	Polysaccharide binding	IDA	21502329
GO:0030658	Component	Transport vesicle membrane	TAS
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031902	Component	Late endosome membrane	IDA	9075930, 18305173
GO:0032395	Function	MHC class II receptor activity	IDA	15795121
GO:0032395	Function	MHC class II receptor activity	NAS	3129499
GO:0032395	Function	MHC class II receptor activity	TAS	3456344, 10425186, 11144299
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0032653	Process	Regulation of interleukin-10 production	IDA	20543955
GO:0032673	Process	Regulation of interleukin-4 production	IDA	20543955
GO:0032689	Process	Negative regulation of interferon-gamma production	IMP	15795121
GO:0032831	Process	Positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation	IDA	28467828
GO:0033674	Process	Positive regulation of kinase activity	IDA	24942581
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IMP	21484216
GO:0042088	Process	T-helper 1 type immune response	IMP	15795121
GO:0042130	Process	Negative regulation of T cell proliferation	IMP	15795121
GO:0042605	Function	Peptide antigen binding	IDA	1448172, 7477400, 7606781, 20543955, 21502329, 22733780
GO:0042608	Function	T cell receptor binding	IDA	29884618
GO:0042609	Function	CD4 receptor binding	IPI	24942581
GO:0042613	Component	MHC class II protein complex	IDA	1448172, 7477400, 7606781, 21502329, 22733780
GO:0042613	Component	MHC class II protein complex	IMP	9354468
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA	24942581
GO:0043382	Process	Positive regulation of memory T cell differentiation	IDA	27591323
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	24942581
GO:0045622	Process	Regulation of T-helper cell differentiation	IDA	15322540
GO:0045657	Process	Positive regulation of monocyte differentiation	IDA	24942581
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	24942581
GO:0046598	Process	Positive regulation of viral entry into host cell	IDA	24942581
GO:0050852	Process	T cell receptor signaling pathway	IDA	32341563
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0051262	Process	Protein tetramerization	IDA	20543955
GO:0060333	Process	Interferon-gamma-mediated signaling pathway	TAS
GO:0070062	Component	Extracellular exosome	HDA	12519789, 19199708, 20458337
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	24942581
GO:0071556	Component	Integral component of lumenal side of endoplasmic reticulum membrane	TAS
GO:2000516	Process	Positive regulation of CD4-positive, alpha-beta T cell activation	IDA	15265931

MIM	HGNC	e!Ensembl
142857	4948	ENSG00000196126

Protein

UniProt ID

P01911

Protein name

HLA class II histocompatibility antigen, DRB1 beta chain (Human leukocyte antigen DRB1) (HLA-DRB1)

Protein function

A beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the alpha chain HLA-DRA, displays antigenic peptides on professional antigen presenting cells (APCs) for recognition by alpha-beta T c

PDB

1A6A , 1AQD , 1BX2 , 1D5M , 1D5X , 1D5Z , 1D6E , 1DLH , 1FYT , 1HXY , 1J8H , 1JWM , 1JWS , 1JWU , 1KG0 , 1KLG , 1KLU , 1LO5 , 1PYW , 1R5I , 1SEB , 1SJE , 1SJH , 1T5W , 1T5X , 1YMM , 2FSE , 2G9H , 2IAM , 2IAN , 2ICW , 2IPK , 2OJE , 2SEB , 2WBJ , 2XN9 , 3L6F , 3O6F , 3PDO , 3PGC , 3PGD , 3QXA , 3QXD , 3S4S , 3S5L , 3T0E , 4AEN , 4AH2 , 4C56 , 4E41 , 4FQX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00969	MHC_II_beta	42 → 116	Class II histocompatibility antigen, beta domain	Domain
PF07654	C1-set	128 → 209	Immunoglobulin C1-set domain	Domain

Sequence

MVCLKLPGGSCMTALTVTLMVLSSPLALSGDTRPRFLWQPKRECHFFNGTERVRFLDRYF
YNQEESVRFDSDVGEFRAVTELGRPDAEYWNSQKDILEQARAAVDTYCRHNYGVVESFTV
QRRVQPKVTVYPSKTQPLQHHNLLVCSVSGFYPGSIEVRWFLNGQEEKAGMVSTGLIQNG
DWTFQTLVMLETVPRSGEVYTCQVEHPSVTSPLTVEWRARSESAQSKMLSGVGGFVLGLL
FLGAGLFIYFRNQKGHSGLQPTGFLS

Sequence length

266

Interactions

View interactions

	KEGG		Reactome
	Phagosome Cell adhesion molecules Antigen processing and presentation Hematopoietic cell lineage Th1 and Th2 cell differentiation Th17 cell differentiation Intestinal immune network for IgA production Type I diabetes mellitus Leishmaniasis Toxoplasmosis Staphylococcus aureus infection Tuberculosis Influenza A Human T-cell leukemia virus 1 infection Herpes simplex virus 1 infection Epstein-Barr virus infection Asthma Autoimmune thyroid disease Inflammatory bowel disease Systemic lupus erythematosus Rheumatoid arthritis Allograft rejection Graft-versus-host disease Viral myocarditis		Downstream TCR signaling Phosphorylation of CD3 and TCR zeta chains Translocation of ZAP-70 to Immunological synapse Generation of second messenger molecules MHC class II antigen presentation PD-1 signaling Interferon gamma signaling

Associated diseases

Show/Hide Causal Diseases (40)

Causal
Disease name	Disease term	dbSNP ID	References
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	30617256
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
Arthritis	Arthritis, Systemic onset juvenile chronic arthritis, Juvenile arthritis, Systemic-onset juvenile idiopathic arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	26598658
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	31619474, 30929738, 16792590
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	8765331
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
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Dermatitis	Dermatitis, Atopic	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	26482879
Diabetes insipidus	Diabetes Insipidus	rs781942628, rs104894747, rs104894748, rs104894749, rs104894750, rs28935496, rs2147483647, rs104894751, rs104894752, rs104894753, rs104894754, rs104894755, rs1569545523, rs104894756, rs104894757, rs104894758, rs104894759, rs104894760, rs121964892, rs104894328, rs104894329, rs1565636541, rs104894334, rs104894330, rs104894331, rs104894335, rs104894332, rs104894333, rs104894337, rs1565637179, rs1565637189, rs28931580, rs104894338, rs104894339, rs104894341, rs796052096, rs886040961, rs370879515, rs1057518723, rs1064797077, rs1131690792, rs1557100304, rs772201159, rs149659001, rs770810694, rs1557100594, rs1603282342, rs749468605
Diabetes mellitus	Diabetes Mellitus, Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Ketosis-Prone, Diabetes Mellitus, Sudden-Onset, NON RARE IN EUROPE: Diabetes mellitus type 1	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	17632545, 26168013, 26168013
Diffuse lymphoma	Diffuse Mixed-Cell Lymphoma	rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291	22096508
Follicular lymphoma	Follicular lymphoma	rs587776632, rs587776633, rs587776634, rs587776635, rs587776636, rs587776637
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Glomerulonephritis	IGA Glomerulonephritis	rs778043831	26028593, 22197929
Heart block	Heart Block	rs267607142, rs172151858, rs1135401735
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354
Hyperthyroidism	Hyperthyroidism	rs121908861, rs121908864, rs121908874, rs121908875, rs121908876, rs121908877, rs121908873, rs121908880, rs121908883, rs121909258, rs6256, rs869312167
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605	22493691
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	18758464
Leprosy	Leprosy	rs121917864, rs2239704	20018961, 25642632
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	23143601
Lymphoma	Lymphoma, Lymphoma, Follicular, Lymphoma, Mixed-Cell, Lymphoma, Undifferentiated, Lymphoma, Small Noncleaved-Cell, Lymphoma, Diffuse, Lymphoma, Non-Hodgkin, Familial	rs11540652, rs1592119138, rs1592123162, rs1599367044	23025665, 23791106, 22096508
Non-hodgkin lymphoma	Lymphoma, Non-Hodgkin	rs121908689, rs28936699, rs121909775, rs398122800, rs121913357, rs121913355, rs398122820	22096508
Moyamoya disease	Moyamoya Disease	rs121434527, rs121434528, rs387906592, rs397514563, rs797045187, rs1555675538, rs1568149971, rs1599150380, rs2079443410	21349441
Multiple sclerosis	Multiple Sclerosis, Multiple Sclerosis, Acute Fulminating, NON RARE IN EUROPE: Multiple sclerosis, Pediatric multiple sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	29521573, 17660530, 25911099, 25911099
Myasthenia gravis	Myasthenia Gravis	rs5030818, rs121912815, rs121912817, rs121912818, rs121912821, rs75466054, rs121912822, rs121912823, rs794727516, rs764497513, rs376808313, rs1279554995, rs1554802792, rs369251527, rs372760913, rs1554802808, rs769234940, rs201439531, rs1272947184, rs757303526, rs760936252, rs1590576560, rs1838635262	25643325
Narcolepsy	Narcolepsy, Narcolepsy type 1, Narcolepsy type 2	rs104894574, rs387906655	19410508, 19629137, 20711174, 24204295, 18706091
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391	11095018, 29903748, 6420562
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840
Pancytopenia	Pancytopenia	rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820
Parkinson disease	Parkinson Disease	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	27182965
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917737, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578
Renal insufficiency	Renal Insufficiency	rs1596536873
Rheumatoid arthritis	Rheumatoid Arthritis, NON RARE IN EUROPE: Rheumatoid arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	17554300, 20453842, 19503088, 22286218, 23143596, 21673997, 21156761, 17804836, 19898480
Sarcoidosis	Sarcoidosis	rs2076530	14508706, 22952805, 22991420
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	28540026, 16223876
Systemic lupus erythematosus	Systemic lupus erythematosus	rs77571059, rs10954213, rs2070197, rs72556554, rs3219018, rs121912990, rs1575496354, rs7574865, rs1307379746, rs758750492, rs1575497576
Ventricular tachycardia	Tachycardia, Ventricular	rs137853228, rs397517025, rs199473373, rs727504432, rs1450434935, rs1592847299

Show/Hide Unknown Diseases (75)

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia
Amnesia	Amnesia, Transient Global
Anorexia	Anorexia
Autoimmune diabetes	Diabetes, Autoimmune		26168013
Bipolar disorder	Bipolar Disorder		23664640
Bullous pemphigoid	Bullous pemphigoid		8710911, 23806156
Cataplexy	Cataplexy
Celiac disease	NON RARE IN EUROPE: Celiac disease	rs2305764, rs35218876
Central nervous system demyelination	Central nervous system demyelination
Chorioretinitis	Chorioretinitis
Classical hodgkin lymphoma	Nodular Sclerosis Classical Hodgkin Lymphoma		22086417
Congestive heart failure	Congestive heart failure	rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569
Crest syndrome	CREST Syndrome
Crohn disease	Crohn Disease, Regional enteritis	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	26891255, 25559196, 23266558, 25559196
Crohn`s disease of large bowel	Crohn`s disease of large bowel		25559196
Crohn`s disease of the ileum	Crohn`s disease of the ileum		25559196
Cryoglobulinemia	Cryoglobulinemia		25030430
Dacryocystitis	Dacryocystitis
Development disorder	Child Development Disorders, Pervasive		28540026
Brittle diabetes mellitus	Brittle diabetes		26168013
Diffuse cutaneous systemic sclerosis	Diffuse cutaneous systemic sclerosis
Dysphagia	Deglutition Disorders
Eczema	Eczema
Enlarged lymph nodes	Generalized enlarged lymph nodes
Eosinophilia	Eosinophilia, Eosinophilia-Myalgia Syndrome, Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related		19790128
Erythema nodosum	Erythema Nodosum
Excessive tearing	Excessive tearing
Facial paralysis	Facial paralysis
Gastroesophageal reflux disease	Gastroesophageal reflux disease
Hallucinations	Hallucinations
Heymann nephritis	Heymann Nephritis		11436868
Hodgkin disease	Hodgkin Disease		24149102
Hypertrophy of parotid gland	Hypertrophy of parotid gland
Hypopigmentation disorder	Hypopigmentation disorder
Ileocolitis	IIeocolitis		25559196
Iridocyclitis	Iridocyclitis
Keratoconjunctivitis sicca	Keratoconjunctivitis Sicca
Lymphocytic leukemia	Chronic Lymphocytic Leukemia, Small Lymphocytic Lymphoma		26956414
Leukopenia	Leukopenia
Limbic encephalitis with lgi1 antibodies	Limbic encephalitis with LGI1 antibodies, Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies		28026046
Limited systemic sclerosis	Limited cutaneous systemic sclerosis, Limited systemic sclerosis
Lung diseases	Lung Diseases, Interstitial
Lupus erythematosus	Lupus Erythematosus, Systemic		21695597, 23793423, 19838195, 23273568, 22893315, 22654485, 19838193, 23917156, 23407388, 11436868
High grade lymphoma	High Grade Lymphoma (neoplasm)		22096508
Intermediate grade lymphoma	Lymphoma, Intermediate-Grade		22096508
Low grade lymphoma	Low Grade Lymphoma (neoplasm)		22096508
Malabsorption syndrome	Malabsorption Syndrome
Mediastinal lymphadenopathy	Mediastinal lymphadenopathy
Membranous glomerulonephritis	Membranous glomerulonephritis, Idiopathic Membranous Glomerulonephritis		11436868
Mental depression	Depressive disorder	rs587778876, rs587778877
Mood swings	Mood swings
Narcolepsy-cataplexy syndrome	Narcolepsy-Cataplexy Syndrome		18706091, 19410508, 20711174
Nephritis	Nephritis, Tubulointerstitial
Nephrocalcinosis	Nephrocalcinosis
Nephrolithiasis	Nephrolithiasis
Nervous system diseases	Peripheral Nervous System Diseases
Nonbacterial verrucal endocardiosis	Libman-Sacks Disease		11436868
Oropharyngeal carcinoma	Oropharyngeal Carcinoma		27749845
Oropharyngeal neoplasm	Oropharyngeal Neoplasms		27749845
Pancreatitis	Pancreatitis	rs61734659	25217962
Parotitis	Parotitis
Pemphigus vulgaris	Pemphigus Vulgaris		22437316
Pericarditis	Pericarditis
Pleural effusion	Pleural effusion disorder
Portal hypertension	Portal Hypertension
Psoriasiform eczema	Psoriasiform eczema
Reticulosarcoma	Reticulosarcoma		22096508
Scleroderma	Diffuse Scleroderma, Scleroderma, Limited
Still disease	Juvenile-Onset Still Disease		26598658
Temporal arteritis	Temporal Arteritis		25817017
Ulcerative colitis	Ulcerative Colitis		26192919, 25559196
Urticaria	Urticaria		20485159
Uveitis	Uveitis, Anterior uveitis
Uveomeningoencephalitic syndrome	Uveomeningoencephalitic Syndrome		25108386
Vitiligo	Vitiligo		22561518, 20526339, 20410501

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