MBL2 (mannose binding lectin 2)

Gene

• Entrez ID: 4153
• Gene name: Mannose binding lectin 2
• Gene symbol: MBL2
• Synonyms (NCBI Gene): COLEC1, HSMBPC, MBL, MBL2D, MBP, MBP-C, MBP1, MBPD
• Chromosome: 10
• Chromosome location: 10q21.1
• Summary: This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes and binds to mannose and N-

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800450	C>T	Pathogenic	Coding sequence variant, missense variant
rs5030737	G>A	Risk-factor, pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT618888	hsa-miR-619-3p	HITS-CLIP	23824327
MIRT618887	hsa-miR-7851-3p	HITS-CLIP	23824327
MIRT618886	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT618885	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT618884	hsa-miR-940	HITS-CLIP	23824327
MIRT618883	hsa-miR-3929	HITS-CLIP	23824327
MIRT618882	hsa-miR-4419b	HITS-CLIP	23824327
MIRT618881	hsa-miR-4478	HITS-CLIP	23824327
MIRT618880	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT618879	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT618878	hsa-miR-3192-5p	HITS-CLIP	23824327
MIRT618877	hsa-miR-4635	HITS-CLIP	23824327
MIRT618876	hsa-miR-1827	HITS-CLIP	23824327
MIRT618875	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT618874	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT618873	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT618872	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT618871	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT618870	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT618869	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT618868	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT618867	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT618866	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT618865	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT618864	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT618863	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT618862	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT618861	hsa-miR-3689c	HITS-CLIP	23824327
MIRT618860	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT618859	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT618858	hsa-miR-665	HITS-CLIP	23824327
MIRT528284	hsa-miR-4311	PAR-CLIP	22012620
MIRT528283	hsa-miR-128-3p	PAR-CLIP	22012620
MIRT528282	hsa-miR-216a-3p	PAR-CLIP	22012620
MIRT528281	hsa-miR-3681-3p	PAR-CLIP	22012620
MIRT528280	hsa-miR-1273f	PAR-CLIP	22012620
MIRT528279	hsa-miR-4696	PAR-CLIP	22012620
MIRT528278	hsa-miR-4640-5p	PAR-CLIP	22012620
MIRT528277	hsa-miR-4726-5p	PAR-CLIP	22012620
MIRT528276	hsa-miR-6508-3p	PAR-CLIP	22012620
MIRT528275	hsa-miR-3653-3p	PAR-CLIP	22012620
MIRT528274	hsa-miR-3658	PAR-CLIP	22012620
MIRT618888	hsa-miR-619-3p	HITS-CLIP	23824327
MIRT618887	hsa-miR-7851-3p	HITS-CLIP	23824327
MIRT618886	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT618885	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT618884	hsa-miR-940	HITS-CLIP	23824327
MIRT618883	hsa-miR-3929	HITS-CLIP	23824327
MIRT618882	hsa-miR-4419b	HITS-CLIP	23824327
MIRT618881	hsa-miR-4478	HITS-CLIP	23824327
MIRT618880	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT618879	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT618878	hsa-miR-3192-5p	HITS-CLIP	23824327
MIRT618877	hsa-miR-4635	HITS-CLIP	23824327
MIRT618876	hsa-miR-1827	HITS-CLIP	23824327
MIRT618875	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT618874	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT618873	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT618872	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT618871	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT618870	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT618869	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT618868	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT618867	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT618866	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT618865	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT618864	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT618863	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT618862	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT618861	hsa-miR-3689c	HITS-CLIP	23824327
MIRT618860	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT618859	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT618858	hsa-miR-665	HITS-CLIP	23824327
MIRT528284	hsa-miR-4311	PAR-CLIP	22012620
MIRT528283	hsa-miR-128-3p	PAR-CLIP	22012620
MIRT528282	hsa-miR-216a-3p	PAR-CLIP	22012620
MIRT528281	hsa-miR-3681-3p	PAR-CLIP	22012620
MIRT528280	hsa-miR-1273f	PAR-CLIP	22012620
MIRT528279	hsa-miR-4696	PAR-CLIP	22012620
MIRT528278	hsa-miR-4640-5p	PAR-CLIP	22012620
MIRT528277	hsa-miR-4726-5p	PAR-CLIP	22012620
MIRT528276	hsa-miR-6508-3p	PAR-CLIP	22012620
MIRT528275	hsa-miR-3653-3p	PAR-CLIP	22012620
MIRT528274	hsa-miR-3658	PAR-CLIP	22012620
MIRT1135243	hsa-miR-1273e	CLIP-seq
MIRT1135244	hsa-miR-127-5p	CLIP-seq
MIRT1135245	hsa-miR-186	CLIP-seq
MIRT1135246	hsa-miR-302a	CLIP-seq
MIRT1135247	hsa-miR-302b	CLIP-seq
MIRT1135248	hsa-miR-302c	CLIP-seq
MIRT1135249	hsa-miR-302d	CLIP-seq
MIRT1135250	hsa-miR-302e	CLIP-seq
MIRT1135251	hsa-miR-3133	CLIP-seq
MIRT1135252	hsa-miR-3173-3p	CLIP-seq
MIRT1135253	hsa-miR-320a	CLIP-seq
MIRT1135254	hsa-miR-320b	CLIP-seq
MIRT1135255	hsa-miR-320c	CLIP-seq
MIRT1135256	hsa-miR-320d	CLIP-seq
MIRT1135257	hsa-miR-320e	CLIP-seq
MIRT1135258	hsa-miR-335	CLIP-seq
MIRT1135259	hsa-miR-3613-3p	CLIP-seq
MIRT1135260	hsa-miR-3647-3p	CLIP-seq
MIRT1135261	hsa-miR-3653	CLIP-seq
MIRT1135262	hsa-miR-372	CLIP-seq
MIRT1135263	hsa-miR-373	CLIP-seq
MIRT1135264	hsa-miR-4266	CLIP-seq
MIRT1135265	hsa-miR-4429	CLIP-seq
MIRT1135266	hsa-miR-4508	CLIP-seq
MIRT1135267	hsa-miR-4653-3p	CLIP-seq
MIRT1135268	hsa-miR-4695-5p	CLIP-seq
MIRT1135269	hsa-miR-4719	CLIP-seq
MIRT1135270	hsa-miR-4779	CLIP-seq
MIRT1135271	hsa-miR-4786-3p	CLIP-seq
MIRT1135272	hsa-miR-513b	CLIP-seq
MIRT1135273	hsa-miR-515-3p	CLIP-seq
MIRT1135274	hsa-miR-519a	CLIP-seq
MIRT1135275	hsa-miR-519b-3p	CLIP-seq
MIRT1135276	hsa-miR-519c-3p	CLIP-seq
MIRT1135277	hsa-miR-519e	CLIP-seq
MIRT1135278	hsa-miR-520a-3p	CLIP-seq
MIRT1135279	hsa-miR-520b	CLIP-seq
MIRT1135280	hsa-miR-520c-3p	CLIP-seq
MIRT1135281	hsa-miR-520d-3p	CLIP-seq
MIRT1135282	hsa-miR-520e	CLIP-seq
MIRT1135283	hsa-miR-671-5p	CLIP-seq
MIRT1135284	hsa-miR-765	CLIP-seq
MIRT2038438	hsa-miR-1290	CLIP-seq
MIRT1135269	hsa-miR-4719	CLIP-seq
MIRT1135272	hsa-miR-513b	CLIP-seq
MIRT2038439	hsa-miR-580	CLIP-seq
MIRT2268286	hsa-miR-1207-3p	CLIP-seq
MIRT2268287	hsa-miR-1283	CLIP-seq
MIRT2268288	hsa-miR-3125	CLIP-seq
MIRT2268289	hsa-miR-3916	CLIP-seq
MIRT2268290	hsa-miR-4668-3p	CLIP-seq
MIRT2268291	hsa-miR-4694-3p	CLIP-seq
MIRT2268292	hsa-miR-520a-5p	CLIP-seq
MIRT2268293	hsa-miR-525-5p	CLIP-seq
MIRT2268294	hsa-miR-936	CLIP-seq
MIRT2453800	hsa-miR-3121-3p	CLIP-seq
MIRT2453801	hsa-miR-3123	CLIP-seq
MIRT2453802	hsa-miR-3925-5p	CLIP-seq
MIRT2453803	hsa-miR-3976	CLIP-seq
MIRT2453804	hsa-miR-520d-5p	CLIP-seq
MIRT2453805	hsa-miR-524-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001867	Process	Complement activation, lectin pathway	IDA	15148336
GO:0001867	Process	Complement activation, lectin pathway	IPI	11549596
GO:0001867	Process	Complement activation, lectin pathway	TAS
GO:0005102	Function	Signaling receptor binding	IPI	11549596
GO:0005515	Function	Protein binding	IPI	11290788, 11485744, 15117939, 21054788, 25579818, 32296183
GO:0005537	Function	Mannose binding	IDA	23544079
GO:0005537	Function	Mannose binding	NAS	11549596
GO:0005537	Function	Mannose binding	TAS	2477488
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	23544079
GO:0006953	Process	Acute-phase response	TAS	2477488
GO:0006956	Process	Complement activation	TAS
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0006979	Process	Response to oxidative stress	NAS	11549596
GO:0008228	Process	Opsonization	TAS	2477488
GO:0009986	Component	Cell surface	TAS	2477488
GO:0042742	Process	Defense response to bacterium	TAS	2477488
GO:0045087	Process	Innate immune response	IDA	23544079
GO:0048306	Function	Calcium-dependent protein binding	IPI	12421953, 18596036
GO:0048525	Process	Negative regulation of viral process	IDA	23544079
GO:0050830	Process	Defense response to Gram-positive bacterium	IDA	15148336
GO:0062023	Component	Collagen-containing extracellular matrix	IBA	21873635

Other IDs

• MIM: 154545
• HGNC: 6922
• e!Ensembl: ENSG00000165471

Protein

• UniProt ID: P11226
• Protein name: Mannose-binding protein C (MBP-C) (Collectin-1) (MBP1) (Mannan-binding protein) (Mannose-binding lectin)
• Protein function: Calcium-dependent lectin involved in innate immune defense (PubMed:35102342). Binds mannose, fucose and N-acetylglucosamine on different microorganisms and activates the lectin complement pathway. Binds to late apoptotic cells, as well as to apo
• PDB: 1HUP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	40 → 104	Collagen triple helix repeat (20 copies)	Repeat
  PF00059	Lectin_C	144 → 246	Lectin C-type domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Plasma protein produced mainly in the liver. {ECO:0000269|PubMed:18006063}.
• Sequence:

  MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGINGFPGKDGRDGTKGEKG
  EPGQGLRGLQGPPGKLGPPGNPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMA
  RIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQASVATPRNAAENGAIQNLIKE
  EAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSH
  LAVCEFPI

• Sequence length: 248

Pathways

KEGG:

Phagosome
Complement and coagulation cascades
Staphylococcus aureus infection
Coronavirus disease - COVID-19

Reactome:

Lectin pathway of complement activation
Initial triggering of complement

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cystic fibrosis	Cystic Fibrosis	rs113993960, rs121908745, rs77101217, rs78655421, rs77932196, rs74551128, rs76713772, rs80055610, rs121909006, rs113993959, rs121908755, rs121908758, rs75527207, rs74597325, rs75549581, rs121908811, rs76649725, rs267606722, rs121909008, rs77010898, rs121909009, rs121909010, rs387906360, rs387906361, rs80034486, rs74767530, rs387906362, rs121909011, rs121908776, rs121909012, rs75961395, rs79850223, rs121908804, rs387906363, rs387906364, rs121908788, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs121909017, rs121909018, rs121909019, rs143570767, rs387906366, rs78194216, rs75528968, rs75039782, rs77902683, rs121908748, rs387906367, rs121909023, rs141158996, rs121908766, rs387906369, rs387906370, rs121909025, rs121909026, rs121908751, rs121908750, rs121909028, rs746418935, rs79282516, rs387906371, rs77409459, rs78802634, rs121909031, rs76554633, rs121909033, rs75115087, rs79633941, rs121908773, rs121909036, rs121909037, rs79635528, rs121908761, rs121908764, rs387906375, rs75389940, rs121909042, rs121908775, rs387906376, rs387906377, rs387906378, rs121909043, rs1797973431, rs387906379, rs121908784, rs121908769, rs121909045, rs387906380, rs267606723, rs121909047, rs75096551, rs193922498, rs193922500, rs121908805, rs139573311, rs193922501, rs193922503, rs193922504, rs193922505, rs1554389296, rs121908812, rs121908799, rs121908746, rs74467662, rs193922509, rs193922510, rs386134230, rs193922514, rs121908797, rs193922515, rs144055758, rs76151804, rs78984783, rs77035409, rs193922519, rs193922520, rs193922521, rs193922523, rs193922524, rs193922526, rs193922528, rs193922532, rs121908767, rs78756941, rs77188391, rs80224560, rs121908789, rs77284892, rs121908779, rs79660178, rs36210737, rs121908749, rs121908763, rs121908792, rs121908794, rs121908801, rs121908796, rs121908772, rs121908768, rs79031340, rs78909279, rs397508136, rs397508137, rs397508138, rs397508139, rs397508140, rs397508141, rs397508144, rs121908774, rs397508146, rs397508148, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508169, rs397508171, rs397508173, rs397508174, rs397508175, rs397508176, rs397508177, rs397508178, rs397508179, rs397508181, rs397508182, rs397508183, rs397508184, rs397508186, rs1800074, rs397508190, rs397508192, rs397508195, rs397508196, rs151020603, rs397508197, rs397508198, rs397508200, rs397508201, rs397508203, rs397508204, rs397508205, rs397508207, rs397508208, rs397508209, rs397508211, rs397508214, rs397508216, rs397508217, rs397508222, rs397508223, rs397508225, rs397508227, rs397508230, rs397508231, rs397508233, rs397508243, rs121908800, rs397508244, rs397508246, rs397508247, rs397508249, rs397508250, rs397508251, rs397508252, rs397508253, rs397508257, rs397508258, rs397508261, rs397508263, rs397508266, rs397508267, rs397508269, rs397508272, rs397508273, rs397508274, rs397508276, rs397508277, rs397508278, rs397508279, rs397508283, rs397508285, rs397508289, rs397508290, rs397508295, rs397508296, rs397508298, rs397508300, rs397508302, rs397508303, rs397508306, rs397508307, rs397508308, rs121908777, rs397508310, rs201978662, rs201124247, rs139468767, rs397508316, rs397508320, rs397508323, rs121908780, rs121908809, rs397508324, rs397508325, rs397508327, rs397508328, rs397508331, rs397508333, rs397508334, rs397508336, rs397508339, rs397508341, rs121908760, rs397508343, rs397508344, rs397508345, rs397508346, rs397508348, rs397508350, rs397508351, rs397508353, rs397508354, rs397508356, rs121908810, rs397508364, rs397508365, rs397508360, rs397508368, rs374946172, rs397508371, rs145449046, rs397508372, rs397508376, rs397508377, rs397508378, rs397508379, rs397508380, rs397508382, rs397508387, rs397508388, rs397508389, rs397508391, rs397508393, rs397508394, rs397508399, rs397508400, rs397508401, rs397508412, rs397508413, rs397508416, rs121908791, rs121909034, rs149790377, rs397508426, rs397508431, rs397508433, rs397508435, rs397508440, rs397508441, rs397508445, rs397508447, rs397508451, rs397508453, rs397508458, rs397508461, rs397508462, rs397508464, rs397508466, rs397508467, rs397508470, rs1562914028, rs397508472, rs397508475, rs397508476, rs397508477, rs397508479, rs397508480, rs397508482, rs397508484, rs121908781, rs397508486, rs397508490, rs1554392027, rs397508493, rs397508496, rs397508498, rs397508499, rs397508500, rs397508503, rs397508505, rs397508506, rs397508509, rs397508510, rs142394380, rs397508514, rs397508516, rs78769542, rs397508517, rs397508518, rs139304906, rs121908798, rs397508524, rs397508525, rs397508528, rs1554392248, rs397508529, rs397508531, rs397508532, rs397508533, rs397508534, rs397508535, rs397508536, rs397508538, rs146521846, rs397508547, rs397508549, rs397508552, rs397508555, rs397508557, rs397508558, rs397508559, rs397508560, rs397508561, rs139729994, rs397508570, rs397508571, rs397508572, rs397508573, rs397508575, rs77834169, rs397508578, rs397508579, rs397508580, rs397508581, rs397508582, rs397508587, rs121908765, rs397508588, rs397508589, rs35396083, rs397508595, rs144781064, rs1554395323, rs397508596, rs397508598, rs397508599, rs397508600, rs397508602, rs397508604, rs397508609, rs397508612, rs397508613, rs397508614, rs397508615, rs397508616, rs397508620, rs146795445, rs397508624, rs387906373, rs397508630, rs121908808, rs397508633, rs397508635, rs397508636, rs397508637, rs397508643, rs397508645, rs397508650, rs397508653, rs397508654, rs397508657, rs397508658, rs397508662, rs397508667, rs397508668, rs397508671, rs397508672, rs397508673, rs397508675, rs397508678, rs397508680, rs397508684, rs397508685, rs397508686, rs397508689, rs76371115, rs397508695, rs397508696, rs397508701, rs397508702, rs372227120, rs397508706, rs397508707, rs397508710, rs397508712, rs397508714, rs397508715, rs397508716, rs374705585, rs121908770, rs397508718, rs397508720, rs397508721, rs397508729, rs397508731, rs397508732, rs397508734, rs397508735, rs397508736, rs397508737, rs397508740, rs397508746, rs121908771, rs397508750, rs1562882675, rs397508758, rs397508759, rs397508760, rs397508761, rs78440224, rs397508762, rs121908793, rs121908802, rs397508764, rs397508767, rs397508768, rs121908803, rs397508771, rs397508775, rs397508777, rs397508778, rs397508781, rs397508782, rs397508783, rs397508784, rs397508791, rs397508794, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508815, rs397508816, rs397508820, rs397508824, rs397515498, rs672601317, rs672601316, rs672601315, rs672601314, rs786204693, rs397508189, rs755416052, rs786205658, rs797045160, rs1805177, rs797045161, rs387906359, rs797045159, rs3034796, rs886042527, rs1057516232, rs1057517342, rs1057516646, rs1057516619, rs1057516387, rs1057516236, rs1057517276, rs1057517068, rs1057517032, rs1057516415, rs780546355, rs1057516970, rs1057516609, rs121908782, rs1057517404, rs754392413, rs1057516457, rs397508683, rs1800135, rs397508709, rs1060503164, rs775663783, rs1554391033, rs1554391489, rs763843966, rs797045156, rs397508294, rs1554379887, rs1554380497, rs397508163, rs121908785, rs1235397597, rs121909005, rs797045162, rs397508355, rs397508405, rs768963919, rs1554392800, rs1554392801, rs1554396393, rs375661578, rs397508669, rs1554397527, rs397508693, rs1554381605, rs766063304, rs773739166, rs1554379899, rs141482808, rs1554380789, rs1290078234, rs1554396384, rs756219310, rs1554390958, rs1554389836, rs1554398510, rs1801178, rs1554390859, rs1554379846, rs1554380311, rs1199914684, rs367934560, rs1554389241, rs762844777, rs750559671, rs1554381596, rs1554388867, rs1554389346, rs397508386, rs1554380465, rs200955612, rs1554397593, rs1554397769, rs1554380828, rs533959068, rs1554384343, rs1351058559, rs1554389062, rs1554390864, rs1554392282, rs1554392798, rs1554397750, rs984281283, rs1554389486, rs1554391454, rs1554391491, rs1554397497, rs758921701, rs1562895066, rs1562928927, rs1330431481, rs1317756653, rs1562876396, rs1562882755, rs397508256, rs1562884046, rs397508522, rs1562889382, rs1562890223, rs193922730, rs1562891084, rs1204521684, rs1562892359, rs1562892387, rs1562892823, rs1562892895, rs1562898465, rs1562898471, rs1562898496, rs1562898510, rs1562907260, rs1562907873, rs397508381, rs1562911661, rs1562911739, rs1562914082, rs1562914107, rs1562914200, rs1562914641, rs779177972, rs1562914838, rs1470125842, rs397508544, rs1562919371, rs1562923164, rs397508601, rs193922732, rs397508661, rs1562928997, rs1562929633, rs1562929636, rs1562895104, rs1562907232, rs1562907896, rs1562908997, rs1562894926, rs750558115, rs1562876459, rs1562895128, rs756206533, rs1481564133, rs1562914072, rs1562923253, rs1562889180, rs1562894928, rs1562906265, rs1562908889, rs1562928854, rs1584789514, rs1584785196, rs1584793546, rs1301983423, rs1408746819, rs1584787119, rs1584784850, rs1584786454, rs1584789226, rs1584793633, rs1584848754, rs397508404, rs1584789180, rs1584787782, rs1584798316, rs397508699, rs1584850283, rs1299250440, rs377447726, rs1584776437, rs1584812217, rs1584837090, rs1584764596, rs1584785072, rs1584786892, rs1584787657, rs1584787716, rs397508811, rs1584789267, rs1584793451, rs1584810167, rs1381239923, rs1584812361, rs1584812425, rs1584812646, rs1584812696, rs1584812777, rs1584817344, rs1584819340, rs1584822237, rs1584830149, rs1584830154, rs1584837173, rs397508666, rs1584848901, rs1584790302, rs1584821306, rs1584824301, rs1584793368, rs1798858347, rs1792366769, rs1792456313, rs1798467599

Associations from Text Mining
Disease Name	Relationship Type	References
AA amyloidosis	Associate	17875183
Abnormalities Drug Induced	Associate	15086395
Abortion Habitual	Associate	36776871
Abortion Spontaneous	Associate	11737072, 28898115, 36776871
Abscess	Associate	22444663
Acquired Immunodeficiency Syndrome	Associate	18498240, 19057812
Acute Kidney Injury	Associate	30967869, 36618347
Acute Lung Injury	Associate	18950526
Agranulocytosis	Associate	18637104
AIDS Associated Nephropathy	Associate	18602571
Amyloidosis	Associate	17875183
Angioedemas Hereditary	Associate	18250972
Aortic Valve Insufficiency	Associate	18400978
Arthritis Juvenile	Associate	18334024
Arthritis Rheumatoid	Associate	10728743, 17195187, 17875183, 18052966, 21496252, 26686423, 28898115
Arthritis Rheumatoid	Inhibit	10943857, 24751721
Ascites	Associate	17131120
Aspergillosis	Associate	22225939
Aspergillosis Allergic Bronchopulmonary	Associate	16487239
Asthma	Associate	16178865, 16487239, 22441636, 22674410, 35818159
Asthma Occupational	Associate	25857450
Atherosclerosis	Associate	12196331, 15254284, 19161617, 20833838, 22848725, 28056798
Atrial Fibrillation	Associate	32389013
Autoimmune Diseases	Associate	10652157, 16681863, 17286761, 24751721, 26564804, 9854050
Bacteremia	Associate	32601370
Bacterial Infections	Associate	18292811, 19790141, 27063552, 33679736
Behcet Syndrome	Associate	28706259
Bipolar Disorder	Associate	34663707
Blackwater Fever	Associate	31941497
Blood Coagulation Disorders	Associate	32871607
Brain Injuries Traumatic	Associate	18552214
Bronchiectasis	Associate	18637104
Bronchiolitis	Associate	22441636
Bronchopulmonary Dysplasia	Associate	18637104
Burkholderia Infections	Associate	10449435
Candidiasis Vulvovaginal	Associate	29850562
Carcinogenesis	Associate	23250731
Carcinoma Hepatocellular	Associate	25787238, 26414287, 27557564, 27824315, 31046434, 32443377
Carcinoma Non Small Cell Lung	Associate	17848669
Carcinoma Ovarian Epithelial	Associate	22633170
Cardiomyopathies	Associate	30526728
Cardiomyopathy Dilated	Associate	38167099
Cardiovascular Diseases	Associate	17846289, 26516624
Carotid Artery Thrombosis	Associate	15254284
Central Nervous System Diseases	Associate	18602571
Chagas Disease	Associate	22302853, 26745156, 30526728
Chlamydia Infections	Associate	36012556
Chronic Periodontitis	Associate	19252378
Citrulline transport defect	Associate	21496252
Clostridium Infections	Associate	25170052
Cognition Disorders	Associate	23662819
Coinfection	Associate	31139182
Colitis Ulcerative	Associate	21088049
Colonic Neoplasms	Associate	10328552
Colorectal Neoplasms	Associate	21198752, 22282660
Common Variable Immunodeficiency	Associate	10652157, 18637104
Communicable Diseases	Associate	16185324, 18637104, 19252378, 21592999, 21695215, 22444663, 24601758, 24751721, 27824315, 31941497, 33013845, 37231213
Complement Component 3 Deficiency Autosomal Recessive	Associate	23841802
Conversion Disorder	Inhibit	35388043
Coronary Aneurysm	Associate	29207079
Coronary Artery Disease	Associate	12196331, 16385529, 29207079
Coronary Restenosis	Associate	28056798
COVID 19	Associate	15838797, 25818534, 32771700, 32871607, 33221483, 33515713, 34570692, 34628288, 35623072, 37138871, 37204457, 37231213, 37313996, 37398656
Critical Illness	Associate	27820718, 31139182, 32871607
Crohn Disease	Associate	27404661
Cystic Disease Of Lung	Associate	15654829
Cystic Fibrosis	Associate	10449435, 11333866, 15516675, 15654829, 16046196, 17158822, 18292811, 18292812, 18637104, 19738092, 20068595, 25178872, 33679736, 35748244
Cytomegalovirus Infections	Associate	19430499
Cytomegalovirus Infections	Inhibit	22444663
Death	Associate	10449435, 15148337, 31139182, 35748244
Dental Caries	Associate	28937897
Dermatitis Atopic	Associate	26124183, 36994777
Dermatitis Atopic 1	Associate	18831943
Dermatomyositis	Associate	12485445, 15982317
Diabetes Complications	Associate	36618347
Diabetes Gestational	Associate	20522590
Diabetes Mellitus	Associate	19517215, 20522590, 20693349, 26136138, 35748244
Diabetes Mellitus Type 1	Associate	19366862, 19517215, 20522590, 26768002, 36618347
Diabetes Mellitus Type 2	Associate	20522590, 20693349, 24376633, 26136138, 36618347
Diabetic Angiopathies	Associate	19517215
Diabetic Nephropathies	Associate	19366862, 26768002
Diabetic Retinopathy	Stimulate	26136138
Diarrhea	Associate	34583337
Drug Hypersensitivity	Associate	16487239, 22441636
Dyspnea	Associate	22225939
Early Onset Glaucoma	Associate	10449435
End Stage Liver Disease	Associate	35748244
Endocarditis	Associate	17286761
Endometriosis	Associate	39892863
Enterocolitis Necrotizing	Associate	31029683
Enterocolitis Neutropenic	Associate	19657091
Eosinophilia	Associate	16487239
Erythema Nodosum	Associate	20650301
Esophageal Squamous Cell Carcinoma	Associate	25431829
Febrile Neutropenia	Associate	20930093, 21488869, 26433879
Fever	Associate	22363494, 26433879, 30294330
Fibrosis	Associate	11333866, 18336595, 18637104
Gastritis	Associate	16476012
Genital Neoplasms Female	Associate	22633170
Glioma	Associate	23637788
Glomerulonephritis	Stimulate	37713183
Glomerulonephritis IGA	Associate	25973081, 30967869, 37065697
Glomerulonephritis Membranous	Associate	27153925, 31138153
Glomerulonephritis With Isolated C3 Deposits And Factor I Deficiency	Associate	31014550
Graft vs Host Disease	Associate	16982337
Granulomatous Disease Chronic	Associate	9854050
GSD IV Neuromuscular Form Fatal Perinatal	Associate	22172537
Guillain Barre Syndrome	Associate	35388043
Heart Diseases	Associate	29653582
Heart Failure	Associate	30526728
Hemolytic Uremic Syndrome	Associate	25281004
Hepatitis B	Associate	27557564, 27824315
Hepatitis B	Stimulate	33643280
Hepatitis C Chronic	Associate	18336595, 31962161
HIV Infections	Associate	16751976, 16960176, 18498240, 18602571, 19057812, 20442634, 24601758, 26348711, 30482213, 34154540
HTLV I Infections	Associate	18209939
Hypersensitivity Immediate	Associate	18498240
Hypoxia	Associate	20412594
Ige Responsiveness Atopic	Associate	16178865
Immunologic Deficiency Syndromes	Associate	10652157, 11333866, 15654829, 17335556
Immunologic Deficiency Syndromes	Inhibit	17064281
Infections	Associate	10524686, 10652157, 10943857, 11737072, 15148337, 15647440, 16178865, 16277709, 17202308, 18552214, 18641344, 19430499, 19438602, 19657091, 19790141, 20930093, 21695215, 26433879, 30294330, 31014550, 32601370, 33221483
Inflammation	Associate	15982317, 16600231, 16960176, 17195187, 17286761, 17848669, 18727690, 20693349, 20833838, 22225939, 22282660, 25857450, 29369166, 34663707, 37138871, 37313996, 9854050
Inflammation	Inhibit	21383675, 31915415
Inflammatory Bowel Diseases	Associate	21088049
Influenza Human	Associate	21920399, 22172537, 31139182
Insulin Resistance	Associate	20522590
Invasive Fungal Infections	Associate	16982337
Invasive Pulmonary Aspergillosis	Associate	22225939
Keratitis	Associate	24426774
Kidney Diseases	Associate	27820718
Kidney Failure Chronic	Associate	30967869
Late Onset Disorders	Stimulate	26207622
Lead Poisoning Nervous System	Associate	11333866
Leprosy	Associate	20650301, 21640628, 33013845
Leprosy Lepromatous	Associate	20650301
Leprosy Multibacillary	Associate	33013845
Livedoid Vasculopathy	Associate	26768002
Liver Cirrhosis	Associate	18336595
Liver Cirrhosis Biliary	Associate	10728743
Liver Diseases	Associate	11333866, 19738092
Liver Failure	Associate	18336595, 31962161
Low Back Pain	Associate	15238088
Lung Diseases	Associate	10449435, 34570692, 37313996
Lung Diseases Fungal	Associate	19430499
Lung Diseases Interstitial	Associate	33101280
Lung Injury	Associate	22225939
Lung Neoplasms	Associate	17848669, 19959685
Lupus Erythematosus Systemic	Associate	10524686, 15147364, 15254284, 15535834, 15647440, 16439442, 17166254, 17335556, 19035512, 25900955, 26686423, 32111865
Lymphatic Metastasis	Associate	23250731
Lymphoma B Cell	Associate	26448050
Lymphopenia	Associate	37313996
Macular Degeneration	Associate	26207622
Malaria	Associate	31941497
Mannose Binding Protein Deficiency	Associate	10728743, 17133182, 17202308, 19438602, 21488869, 22523362, 22674410, 22848725, 25178872, 25830474, 25879044, 27153925, 28898115, 29452463, 33679736, 34907799
Mannose Binding Protein Deficiency	Inhibit	15242964, 16982337, 17286761, 18400978, 24338257, 27153925, 31029683, 36994777
Meningitis Bacterial	Associate	29534633
Meningitis Cryptococcal	Associate	21592999
Meningitis Pneumococcal	Associate	23741476, 28562692, 29534633
Meningococcal Infections	Associate	15242964, 23595505, 24977653
Mental Disorders	Associate	29452463
Mental Fatigue	Associate	37398656
Mucocutaneous Lymph Node Syndrome	Associate	16385529, 20374367, 29207079
Multi centric Castleman's Disease	Associate	30482213
Multiple Myeloma	Associate	17875183
Multiple Sclerosis	Associate	21911261
Myocardial Infarction	Associate	12196331, 17195187, 17846289, 20693349, 22848725
Myocardial Infarction	Stimulate	32389013
Myocardial Ischemia	Associate	17195187
Nasopharyngeal Carcinoma	Associate	23576520
Neoplasms	Associate	17131120, 23637788, 30294330, 31046434
Neoplasms	Inhibit	26144282
Neurocognitive Disorders	Associate	20442634
Neutropenia	Associate	19657091, 20930093
Neutrophilia Hereditary	Associate	37313996
Non Radiographic Axial Spondyloarthritis	Associate	10728743
Obesity	Associate	26694100
Optic Neuropathy Ischemic	Associate	19439017
Ovarian Cysts	Associate	17131120
Ovarian Neoplasms	Associate	17131120, 22633170, 25038892
Pancreatic Neoplasms	Stimulate	20587030
Pediatric Obesity	Associate	31029683
Periodontitis	Associate	19252378
Pneumococcal Infections	Associate	23741476, 24547957
Pneumonia	Associate	10524686, 12196331, 17711490, 19438602, 21198752, 34628288
Pneumonia Mycoplasma	Associate	28032346
Pneumonia Pneumococcal	Associate	16879241
Pneumonia Pneumocystis	Associate	33362211
Post Acute COVID 19 Syndrome	Associate	37313996, 37398656
Pre Eclampsia	Associate	18727690, 25879409
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	12393405
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	32601370
Pseudomonas Infections	Associate	10449435, 20068595, 33679736
Pulmonary Disease Chronic Obstructive	Associate	24901869, 26684757
Pulmonary Embolism	Associate	23726092
Pyelonephritis	Associate	17202308
Renal Insufficiency	Associate	26768002
Respiratory Distress Syndrome	Associate	17133182, 25879044, 31029683, 39464884
Respiratory Insufficiency	Associate	18637104
Respiratory Sounds	Associate	25326706
Respiratory Tract Diseases	Associate	15086395, 25879044
Respiratory Tract Infections	Associate	18847375, 22441636, 22444663, 24593307
Rheumatic Heart Disease	Inhibit	20646009
Rheumatic Heart Disease	Associate	29653582
Rhinitis Allergic	Associate	16487239
Schistosomiasis haematobia	Associate	25830474
Schizophrenia	Associate	34663707
Sepsis	Associate	17064281, 17133182, 17711490, 19430499, 20528471, 27820718, 28558032, 31139182
Severe Acute Respiratory Syndrome	Associate	16185324, 19405982, 25818534, 27820718
Shock	Associate	21488869
Shock Septic	Associate	17064281, 17202308, 19790141
Sjogren's Syndrome	Associate	11302870, 26686423
Soft Tissue Injuries	Associate	17195187
Staphylococcal Infections	Associate	22172537, 31139182
Status Asthmaticus	Associate	16178865, 22674410
Stenotrophomonas maltophilia bacteremia	Associate	16879241
Stomach Neoplasms	Stimulate	25952687
Stomatitis	Associate	28558032
Stomatitis Aphthous	Associate	34907799
Stroke	Associate	26516624
Surgical Wound Infection	Associate	16277709
Sutton disease 2	Associate	34907799
Syndrome	Associate	26633546, 29210071
Thromboinflammation	Associate	32871607
Thrombosis	Associate	32871607
Thyroid Cancer Papillary	Associate	23250731
Thyroid Diseases	Associate	24339961
Thyroid Neoplasms	Associate	23250731
Thyroiditis Autoimmune	Associate	24339961
Triple Negative Breast Neoplasms	Associate	40545963
Tuberculosis	Associate	16553818, 21695215, 23524205, 26261060, 27812036, 28298186, 29636444, 31383674
Tuberculosis Pulmonary	Associate	16553818, 23524205, 26261060, 28298186, 29636444
Tuberculosis Spinal	Associate	29298876
Urinary Tract Infections	Associate	28558032
Vascular Diseases	Associate	33221483
Vascular System Injuries	Associate	21729275, 26768002
Venous Thromboembolism	Stimulate	40371468
Venous Thrombosis	Associate	40371468
Virus Diseases	Associate	18831943, 19430499, 25830474, 37313996