CCL2 (C-C motif chemokine ligand 2)

Gene

• Entrez ID: 6347
• Gene name: C-C motif chemokine ligand 2
• Gene symbol: CCL2
• Synonyms: GDCF-2, HC11, HSMCR30, MCAF, MCP-1, MCP1, SCYA2, SMC-CF
• Chromosome: 17
• Chromosome location: 17q12
• Summary: This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the ar

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004284	hsa-miR-124-3p	Luciferase reporter assay	19404929
MIRT021047	hsa-miR-155-5p	Proteomics	18668040
MIRT024058	hsa-miR-1-3p	Microarray	18668037
MIRT030277	hsa-miR-26b-5p	Microarray	19088304
MIRT030558	hsa-miR-24-3p	Microarray	19748357
MIRT004284	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	24122720
MIRT004284	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	24122720
MIRT004284	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	24122720
MIRT731131	hsa-miR-495-3p	ELISA, qRT-PCR, Luciferase reporter assay, Western blot	25466836
MIRT731131	hsa-miR-495-3p	ELISA, qRT-PCR, Luciferase reporter assay, Western blot	25466836
MIRT732272	hsa-miR-518a-5p	ELISA, qRT-PCR, Western blot	28341837
MIRT732272	hsa-miR-518a-5p	ELISA, qRT-PCR, Western blot	28341837
MIRT024058	hsa-miR-1-3p	ELISA, Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	27541266
MIRT024058	hsa-miR-1-3p	ELISA, Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	27541266
MIRT732726	hsa-miR-550a-3-5p	Immunohistochemistry (IHC), Microarray, qRT-PCR, Western blotting	32493454
MIRT735937	hsa-miR-493-3p	Luciferase reporter assay, Western blotting, qRT-PCR	33332775
MIRT755529	hsa-miR-149-3p	qRT-PCR	36250208
MIRT756186	hsa-miR-146a-5p	Western blotting, qRT-PCR	36409752
MIRT871036	hsa-miR-1323	CLIP-seq
MIRT871037	hsa-miR-3667-5p	CLIP-seq
MIRT871038	hsa-miR-371b-5p	CLIP-seq
MIRT871039	hsa-miR-527	CLIP-seq
MIRT871040	hsa-miR-548o	CLIP-seq
MIRT2427164	hsa-miR-3143	CLIP-seq
MIRT2427165	hsa-miR-543	CLIP-seq
MIRT2427166	hsa-miR-664	CLIP-seq
MIRT2498638	hsa-miR-124	CLIP-seq
MIRT2498639	hsa-miR-23a	CLIP-seq
MIRT2498640	hsa-miR-23b	CLIP-seq
MIRT2498641	hsa-miR-23c	CLIP-seq
MIRT2498642	hsa-miR-3714	CLIP-seq
MIRT2498643	hsa-miR-3910	CLIP-seq
MIRT2498644	hsa-miR-409-3p	CLIP-seq
MIRT2498645	hsa-miR-506	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
APEX1	Activation	17045925
ATF4	Unknown	16931790
CEBPA	Activation	24429361
HDAC2	Unknown	22679019
IRF3	Unknown	20483755
JUN	Activation	18443042
NFAT5	Repression	22619484
NFIC	Activation	16206198
NFKB1	Activation	10530453;11512674;12488502;12647268;16206198;16764699;20200316;9388261
NFKB1	Unknown	10744656;11006087;11949945;12218154;14631383;15950427;16040075;16818736;8617886
NR1I2	Repression	22248096
PREB	Unknown	19426980
REL	Activation	10469356;9388261
RELA	Activation	10530453;12488502;12647268;16206198;16764699;17452470;20200316;9388261
RELA	Unknown	10744656;11006087;11949945;12218154;14631383;15950427;16040075;16730843;16818736;8617886
SP1	Activation	10644332
SP1	Unknown	12488502
SPI1	Activation	24429361
STAT1	Unknown	12388243;17167270
STAT2	Unknown	17167270
STAT3	Activation	24429361
XBP1	Unknown	16931790

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IMP	21147091
GO:0001525	Process	Angiogenesis	TAS	18334747
GO:0002548	Process	Monocyte chemotaxis	IBA	21873635
GO:0002548	Process	Monocyte chemotaxis	IDA	12207323
GO:0004672	Function	Protein kinase activity	TAS	9973507
GO:0005102	Function	Signaling receptor binding	TAS	10542238
GO:0005515	Function	Protein binding	IPI	26095031, 28381538, 32296183
GO:0005576	Component	Extracellular region	IDA	20041150
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0006468	Process	Protein phosphorylation	TAS	9670957
GO:0006935	Process	Chemotaxis	TAS	10623817
GO:0006954	Process	Inflammatory response	IBA	21873635
GO:0006954	Process	Inflammatory response	IDA	21147091
GO:0006959	Process	Humoral immune response	TAS	9548499
GO:0007010	Process	Cytoskeleton organization	IDA	10072545
GO:0007155	Process	Cell adhesion	TAS	10198043
GO:0007165	Process	Signal transduction	NAS	10770925
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	9548499
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	10770925
GO:0007259	Process	Receptor signaling pathway via JAK-STAT	TAS	9670957
GO:0008009	Function	Chemokine activity	IBA	21873635
GO:0008360	Process	Regulation of cell shape	IDA	10072545
GO:0009617	Process	Response to bacterium	NAS	16034137
GO:0009887	Process	Animal organ morphogenesis	TAS	9364936
GO:0019079	Process	Viral genome replication	TAS	10985244
GO:0019221	Process	Cytokine-mediated signaling pathway	IDA	12207323
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019233	Process	Sensory perception of pain	ISS
GO:0019725	Process	Cellular homeostasis	TAS	18334747
GO:0030593	Process	Neutrophil chemotaxis	IBA	21873635
GO:0031663	Process	Lipopolysaccharide-mediated signaling pathway	IDA	21147091
GO:0031727	Function	CCR2 chemokine receptor binding	ISS
GO:0031727	Function	CCR2 chemokine receptor binding	TAS	18021937
GO:0034351	Process	Negative regulation of glial cell apoptotic process	IDA	12753088
GO:0035684	Process	Helper T cell extravasation	ISS
GO:0036499	Process	PERK-mediated unfolded protein response	TAS
GO:0043491	Process	Protein kinase B signaling	IMP	21147091
GO:0043524	Process	Negative regulation of neuron apoptotic process	IDA	12753088
GO:0043547	Process	Positive regulation of GTPase activity	IBA	21873635
GO:0043615	Process	Astrocyte cell migration	IDA	12271471
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	IEP	9407497
GO:0048020	Function	CCR chemokine receptor binding	IBA	21873635
GO:0048245	Process	Eosinophil chemotaxis	IBA	21873635
GO:0048246	Process	Macrophage chemotaxis	IDA	12207323
GO:0048247	Process	Lymphocyte chemotaxis	IBA	21873635
GO:0050870	Process	Positive regulation of T cell activation	ISS
GO:0051770	Process	Positive regulation of nitric-oxide synthase biosynthetic process	ISS
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	ISS
GO:0070098	Process	Chemokine-mediated signaling pathway	IBA	21873635
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IBA	21873635
GO:0071222	Process	Cellular response to lipopolysaccharide	ISS
GO:0071346	Process	Cellular response to interferon-gamma	IBA	21873635
GO:0071346	Process	Cellular response to interferon-gamma	IEP	9407497
GO:0071346	Process	Cellular response to interferon-gamma	ISS
GO:0071347	Process	Cellular response to interleukin-1	IBA	21873635
GO:0071347	Process	Cellular response to interleukin-1	IEP	9407497
GO:0071347	Process	Cellular response to interleukin-1	ISS
GO:0071356	Process	Cellular response to tumor necrosis factor	IBA	21873635
GO:0071356	Process	Cellular response to tumor necrosis factor	IEP	9407497
GO:0071356	Process	Cellular response to tumor necrosis factor	ISS
GO:0071407	Process	Cellular response to organic cyclic compound	IDA	21147091
GO:0090280	Process	Positive regulation of calcium ion import	IDA	10925302
GO:1904783	Process	Positive regulation of NMDA glutamate receptor activity	ISS
GO:1905563	Process	Negative regulation of vascular endothelial cell proliferation	IMP	25466836
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IMP	25466836
GO:2000353	Process	Positive regulation of endothelial cell apoptotic process	IMP	25466836
GO:2000427	Process	Positive regulation of apoptotic cell clearance	ISS
GO:2000502	Process	Negative regulation of natural killer cell chemotaxis	IDA	7545673

Other IDs

• MIM: 158105
• HGNC: 10618
• e!Ensembl: ENSG00000108691

Protein

• UniProt ID: P13500
• Protein name: C-C motif chemokine 2 (HC11) (Monocyte chemoattractant protein 1) (Monocyte chemotactic and activating factor) (MCAF) (Monocyte chemotactic protein 1) (MCP-1) (Monocyte secretory protein JE) (Small-inducible cytokine A2)
• Protein function: Acts as a ligand for C-C chemokine receptor CCR2 (PubMed:10529171, PubMed:10587439, PubMed:9837883). Signals through binding and activation of CCR2 and induces a strong chemotactic response and mobilization of intracellular calcium ions (PubMed:
• PDB: 1DOK, 1DOL, 1DOM, 1DON, 1ML0, 2BDN, 2NZ1, 3IFD, 4DN4, 4R8I, 4ZK9, 7SO0, 7XA3, 8FJ0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00048	IL8	32 → 90	Small cytokines (intecrine/chemokine), interleukin-8 like	Domain

• Sequence:

  MKVSAALLCLLLIAATFIPQGLAQPDAINAPVTCCYNFTNRKISVQRLASYRRITSSKCP
  KEAVIFKTIVAKEICADPKQKWVQDSMDHLDKQTQTPKT

• Sequence length: 99

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
Chemokine signaling pathway
NOD-like receptor signaling pathway
IL-17 signaling pathway
TNF signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Yersinia infection
Chagas disease
Malaria
Human cytomegalovirus infection
Influenza A
Herpes simplex virus 1 infection
Coronavirus disease - COVID-19
Rheumatoid arthritis
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis

Reactome:

Chemokine receptors bind chemokines
ATF4 activates genes in response to endoplasmic reticulum stress
Interleukin-10 signaling
Interleukin-4 and Interleukin-13 signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anencephaly	Anencephaly, Exencephaly, Iniencephaly	rs773607884
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	19373627
Becker muscular dystrophy	Becker Muscular Dystrophy	rs104894787, rs1569564916, rs1569546198, rs128626236, rs128626237, rs1556834513, rs2147483647, rs267606771, rs5030730, rs587776747, rs398122853, rs398123935, rs398123954, rs398123985, rs398124002, rs398124034, rs398124082, rs398124099, rs398124105, rs373286166, rs727503864, rs796065325, rs794726993, rs794727666, rs863225001, rs779739455, rs886042106, rs886042840, rs763936813, rs886044406, rs1060502639, rs1064796764, rs753662330, rs398123909, rs182575709, rs1556880354, rs1557380616, rs1557047827, rs796523999, rs886043375, rs1556875224, rs1556852444, rs1569558953, rs1569560475, rs1569563740, rs1602169535, rs1601809011, rs1603632322, rs1603636537, rs376745644	21641384
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	25199511
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs780263938, rs756636036, rs775394591	30418988
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	11500196, 16934270
Duchenne and becker muscular dystrophy	Duchenne and Becker Muscular Dystrophy	rs794727661, rs1556930579	21641384
Duchenne muscular dystrophy	Muscular Dystrophy, Duchenne	rs128625226, rs128625227, rs128625228, rs128625229, rs2147483647, rs104894787, rs128625230, rs128626234, rs201366610, rs267606770, rs128626235, rs128626231, rs146071084, rs128626232, rs104894788, rs128626233, rs128626238, rs128626239, rs128626240, rs128626241, rs1556834513, rs128626242, rs128626243, rs128626244, rs128626245, rs128626246, rs128626247, rs128626248, rs128626249, rs128626250, rs128626251, rs128626252, rs128626253, rs128626254, rs104894790, rs104894797, rs5030730, rs1569528138, rs587776747, rs128627256, rs128627257, rs398122853, rs398123827, rs398123828, rs398123832, rs398123833, rs398123834, rs398123835, rs398123838, rs398123839, rs398123846, rs398123852, rs398123853, rs72468700, rs398123856, rs398123862, rs398123863, rs398123865, rs398123866, rs398123870, rs398123872, rs398123873, rs398123881, rs398123882, rs398123883, rs398123884, rs398123885, rs398123887, rs398123888, rs398123889, rs398123892, rs398123893, rs398123901, rs398123903, rs398123905, rs398123909, rs398123912, rs398123915, rs398123919, rs398123920, rs398123923, rs398123929, rs398123934, rs398123935, rs398123937, rs398123938, rs398123942, rs398123948, rs398123950, rs398123952, rs398123953, rs398123957, rs398123960, rs398123962, rs398123963, rs398123970, rs398123971, rs398123973, rs398123977, rs398123979, rs398123980, rs398123981, rs398123990, rs1064325, rs398123991, rs398123997, rs398123999, rs398124003, rs398124007, rs398124008, rs398124012, rs398124033, rs398124034, rs398124036, rs398124038, rs398124039, rs398124040, rs398124042, rs398124044, rs398124050, rs398124051, rs398124055, rs398124058, rs398124060, rs398124062, rs398124068, rs398124070, rs398124072, rs398124073, rs398124074, rs398124075, rs398124078, rs398124091, rs398124092, rs398124094, rs398124096, rs398124099, rs398124104, rs398124105, rs373286166, rs727503850, rs727503802, rs727503864, rs794726993, rs794727030, rs794727123, rs794727357, rs794727359, rs794727422, rs794727463, rs794727499, rs794727661, rs794727666, rs797044764, rs201361100, rs796065333, rs794727862, rs794727890, rs797045526, rs146880270, rs863224977, rs863224976, rs863224975, rs863225018, rs863225017, rs863225015, rs863225014, rs863225013, rs863225012, rs863225011, rs863225010, rs863225009, rs762394978, rs863225008, rs863225007, rs863225006, rs863225005, rs863225004, rs863225003, rs863225002, rs777864641, rs863225001, rs863225000, rs863224999, rs863224998, rs863224997, rs863224994, rs863224993, rs863224992, rs756949497, rs863224988, rs863224987, rs863224986, rs762860653, rs863224985, rs863224984, rs863224983, rs863224982, rs863224981, rs863224980, rs863224979, rs863224978, rs863224996, rs863224995, rs863224991, rs863224990, rs863224989, rs878854366, rs779739455, rs878854621, rs770845480, rs762250680, rs878854619, rs878854618, rs886039681, rs886039532, rs886039478, rs886039535, rs886039536, rs886039785, rs886041344, rs886042106, rs886042154, rs886042495, rs886042499, rs886042604, rs886042747, rs886042840, rs886042875, rs398124032, rs886042983, rs886043041, rs886043084, rs763936813, rs886043251, rs886043375, rs886043496, rs886043640, rs886043676, rs886043699, rs886043822, rs886043909, rs886043989, rs748769566, rs886044324, rs886044402, rs886044455, rs886044490, rs886044502, rs886044582, rs1057518207, rs1057518962, rs1057518692, rs1057520764, rs1556641290, rs1060502653, rs1064792968, rs1060502624, rs1060502621, rs765445866, rs1060502645, rs1064792967, rs1060502659, rs1060502620, rs1060502643, rs1060502641, rs1060502639, rs1060502636, rs1060502661, rs1060502635, rs1060502629, rs1060502644, rs72470513, rs1557079469, rs1060502626, rs1060502625, rs1060502630, rs1057524037, rs1060502633, rs1060502656, rs1060502648, rs1060502619, rs1060502646, rs1060502623, rs1060502632, rs1060502640, rs1557380496, rs1060502647, rs1060502637, rs1060502634, rs1060502615, rs1060502627, rs1557084128, rs1060502652, rs1064794569, rs1064793479, rs1064793986, rs1064793964, rs1556665303, rs753662330, rs1556790316, rs1556656184, rs1556764743, rs1556764753, rs1556806356, rs773643220, rs1556875180, rs1340365803, rs1556656851, rs1557316295, rs1556046080, rs1556256329, rs1556656487, rs1556962223, rs1556962571, rs1557011973, rs1557291170, rs1556930769, rs104894789, rs1556665052, rs1556917057, rs1557305645, rs182575709, rs1556656818, rs1557218076, rs1239018406, rs1557084067, rs1557300135, rs1556035795, rs1556037455, rs1556853039, rs1556880354, rs1557380616, rs1557047827, rs1557396600, rs1557374667, rs796523999, rs1557320151, rs1057517960, rs1557304860, rs770183212, rs1557218093, rs1557038061, rs1557320194, rs1233380601, rs1557294228, rs1557011929, rs1557322838, rs1057518284, rs1557291242, rs1557292678, rs1557322834, rs1557058415, rs1556780579, rs1556930579, rs1557369493, rs1556764934, rs1556962271, rs1557315928, rs1555998436, rs1556764922, rs1556656847, rs1557218131, rs1557369413, rs1557369991, rs1557374482, rs1055371114, rs1556040444, rs1557291229, rs1010666282, rs1556028034, rs1556929259, rs1556930839, rs1557303544, rs1557380685, rs1556802319, rs1556809704, rs1557058308, rs1557058350, rs1385794215, rs1556035817, rs1556503937, rs1556656456, rs1556764880, rs1556789913, rs1557322201, rs1557359217, rs1557362198, rs1556853298, rs1556875224, rs1556876346, rs1556852444, rs1569460607, rs1569530432, rs1569451994, rs1569452000, rs1569559106, rs144732570, rs1569273905, rs1569526122, rs1569562941, rs1569230406, rs1569559822, rs1569526579, rs1569528101, rs1569533965, rs1569546174, rs1569559110, rs1569559849, rs1569562936, rs1569562952, rs1057522454, rs149106712, rs1569469298, rs1569401103, rs1209389771, rs1569563678, rs1569560739, rs868688877, rs1569558953, rs1569230215, rs1569563751, rs1569565192, rs1569559204, rs1569186252, rs1569558906, rs1569533147, rs1569559097, rs1569564281, rs1569562466, rs1569169560, rs1429329309, rs1569460722, rs1569556943, rs1569420861, rs1569213903, rs374744331, rs1569463953, rs1569230293, rs1295394996, rs1602451773, rs1602145926, rs1602416457, rs886043597, rs1602728959, rs72466562, rs1602938385, rs1603222095, rs1603280511, rs1603452196, rs142500746, rs1254776844, rs1603513684, rs1603513697, rs1603618489, rs1603632245, rs1603632312, rs1603634298, rs1603634608, rs1603634744, rs1602169535, rs1602460062, rs1603432076, rs1603441550, rs1602766725, rs1603419076, rs1603447081, rs1603631757, rs1601809011, rs1602727611, rs1603222556, rs1602146767, rs1602337330, rs895755247, rs1602369798, rs1602409174, rs1602417503, rs1181271457, rs1602454605, rs1602454639, rs1602454747, rs1602455302, rs1602455747, rs1602456486, rs1602669026, rs1602695597, rs1602696519, rs1602730254, rs1602947628, rs1603253563, rs1601864055, rs1602056443, rs1602937974, rs1556656077, rs1603221854, rs1603222424, rs1603222574, rs1603222897, rs1603222922, rs1603223025, rs794727770, rs1603226023, rs1603264641, rs1603264659, rs1603264705, rs1603264731, rs1603280686, rs1603280745, rs1603280796, rs1603430178, rs1603430181, rs1603445277, rs1603445278, rs1603445283, rs1603445332, rs1603445344, rs1603452207, rs1603513680, rs1603513803, rs1603513817, rs1603513828, rs1603514271, rs1603514272, rs201818335, rs1603615883, rs1603628479, rs1603628482, rs1603628483, rs1603628485, rs1603628487, rs1603629988, rs1603630431, rs1603631225, rs1603631240, rs1603631241, rs1603631244, rs1603631367, rs1603631368, rs373428963, rs1603631705, rs1603631744, rs1603631752, rs1603631756, rs1603632117, rs1603632119, rs771425504, rs1216000876, rs1603632248, rs1603632309, rs1603632311, rs1603632314, rs1603632316, rs772220893, rs1603632322, rs1603632324, rs1603632326, rs1603633486, rs1603633541, rs1603633545, rs1339088514, rs398123943, rs1603633864, rs1603633868, rs1603634079, rs1569563740, rs1603634105, rs1603634199, rs1603634203, rs1603634206, rs1603634207, rs1603634299, rs1603634603, rs1603634604, rs1603634607, rs1603634609, rs747937552, rs1603634742, rs1603634743, rs1603634745, rs1603634746, rs1603634747, rs1603634748, rs1603635326, rs1603635331, rs1603635949, rs1603635950, rs1603635953, rs1603636537, rs1603636541, rs1601808288, rs1601808296, rs1601808326, rs1601808608, rs1601810667, rs1602467530, rs1602467590, rs1602467787, rs1602468968, rs1602469251, rs1602469384, rs1603137168, rs1603149954, rs1603150335, rs1603150993, rs374222301, rs1603151699, rs1603432059, rs794727863, rs1603437254, rs1603437272, rs1603441629, rs1603447057, rs1603447072, rs1602765633, rs1602766499, rs1602766531, rs1602766655, rs1403865104, rs1603419074, rs768892830, rs1603631365, rs1602765856, rs1602338283, rs1602360475, rs1603631219, rs1603634749, rs1602459252, rs2040217313, rs376745644, rs2040714340, rs2041309291, rs2044445392, rs2067953453, rs2068036881, rs2068038543, rs2078916448, rs2090513299, rs2094827204, rs2094864356, rs2095370524, rs1425702864, rs2097850041, rs2098390819, rs2042979418, rs2046036327, rs2052700227, rs2077781516, rs2080979223, rs2040711393, rs2097447247, rs2098280263, rs2098391032, rs2063781031, rs2080514041, rs2036834025, rs2063903818	21641384
Endometrial carcinoma	Endometrial Carcinoma	rs34612342, rs587776667, rs587776701, rs63750955, rs587776706, rs121434629, rs80359605, rs121913530, rs104894365, rs79184941, rs121913478, rs63750781, rs193922343, rs267608094, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs63749874, rs267608076, rs587779220, rs63750735, rs267608082, rs587779227, rs267608068, rs63750075, rs587779232, rs267608058, rs63751127, rs63750138, rs267608065, rs63751017, rs587779246, rs63750111, rs63750563, rs267608073, rs63751407, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs267608078, rs267608092, rs587779263, rs267608098, rs587779267, rs63750194, rs63751327, rs63751328, rs587779284, rs63749942, rs63751058, rs267608114, rs267608118, rs63751319, rs267608128, rs1553333594, rs267608126, rs63750767, rs267608120, rs267608121, rs267608122, rs63750342, rs63749873, rs587779318, rs63750019, rs63749980, rs267608048, rs1553412283, rs146816935, rs63750855, rs63751711, rs267607789, rs587779094, rs63750224, rs267607972, rs63750084, rs587779185, rs587778617, rs398123231, rs398123232, rs398123318, rs587780021, rs63750119, rs267608064, rs587781490, rs587781558, rs587781691, rs63749821, rs587782111, rs587782326, rs587782704, rs587779264, rs587779333, rs587782712, rs587783056, rs730881825, rs730881827, rs730881829, rs730881830, rs786202193, rs587782281, rs786202848, rs786201049, rs750528093, rs786202108, rs267608083, rs786201050, rs786203924, rs587781544, rs786201084, rs1553333738, rs863224829, rs863225398, rs863225409, rs863225412, rs864622041, rs869312769, rs869312770, rs63751077, rs876661205, rs876661025, rs63749919, rs876661073, rs876661222, rs267608041, rs878853702, rs751326348, rs866260675, rs886039666, rs886044911, rs1057517552, rs1057517764, rs1057517763, rs121909224, rs1057520605, rs1060502885, rs1060502918, rs1060502932, rs587779215, rs1060502937, rs1060502886, rs1060502875, rs1060502881, rs267607939, rs1023534466, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794302, rs1064793489, rs1064794384, rs1064793781, rs1553333500, rs760190301, rs1114167719, rs1114167776, rs1114167704, rs1114167748, rs1114167731, rs753796271, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167765, rs1114167747, rs786204048, rs1114167707, rs1114167767, rs1114167717, rs1114167783, rs1553412966, rs1553333598, rs587779297, rs1554294505, rs988423880, rs1554306353, rs1553408136, rs1553333321, rs1553408388, rs63749973, rs1553412064, rs1553412120, rs1553826166, rs1553413784, rs1553331242, rs1553414519, rs1564568660, rs1558392033, rs878853704, rs765763906, rs1558663559, rs1572720704, rs63750985, rs1572727440, rs587779253, rs1580538168, rs149350323, rs374133543, rs771721952, rs201033017, rs763478027, rs1475633334, rs1580553624, rs1580553669, rs578113271, rs757194485, rs539295465, rs778610412, rs758191157, rs1580597397, rs1580033751, rs751236312, rs376667075, rs1561486630, rs1561486632, rs777054839, rs1204002507, rs766672143, rs1580091499, rs1386063673, rs1450314617, rs1580027713, rs367544716, rs1488467945, rs1580053768, rs1580553607, rs1572720794, rs1572722039, rs1572723786, rs1572725235, rs1572728112, rs1175196087, rs1572741984, rs1580540688, rs1259647122, rs1580546793, rs1234762807, rs1580556516, rs1669245178, rs1669365820, rs756190979, rs371356175, rs766997264, rs1743353294, rs1379605717, rs770330684, rs1462955256, rs1744356274, rs1480047980, rs1744149615	17380299
Glomerulonephritis	Glomerulonephritis	rs778043831	10385480
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hyperinsulinism	Hyperinsulinism	rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209, rs761749884, rs797045624, rs863225280, rs139964066, rs1057516281, rs1057516317, rs576684889, rs201682634, rs1350717554, rs768951263, rs1260178539, rs200670692, rs72559734, rs1400535021, rs372307320, rs1554923999, rs751279984, rs1008906426, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1599937180	29035695
Hyperoxaluria	Hyperoxaluria, Oxalosis	rs397509360, rs138207257, rs2041105506, rs267606763, rs267606764, rs80356708, rs119490108, rs121908520, rs121908521, rs121908522, rs121908523, rs121908524, rs121908525, rs121908526, rs121908527, rs121908528, rs121908530, rs121908529, rs180177201, rs180177238, rs180177321, rs672601351, rs180177322, rs180177157, rs180177168, rs180177195, rs180177197, rs180177207, rs180177227, rs180177239, rs180177253, rs180177259, rs786204545, rs180177267, rs180177301, rs180177156, rs180177307, rs138584408, rs180177194, rs180177213, rs180177191, rs34116584, rs180177262, rs180177268, rs180177278, rs180177162, rs180177166, rs180177170, rs180177171, rs180177172, rs180177173, rs180177177, rs767586362, rs180177181, rs180177182, rs796052058, rs796052069, rs180177183, rs180177184, rs180177185, rs180177186, rs796052059, rs180177187, rs180177189, rs180177193, rs180177198, rs796052060, rs180177199, rs180177200, rs180177202, rs180177203, rs796052061, rs180177208, rs138025751, rs796052067, rs113681235, rs796052070, rs180177210, rs180177211, rs180177214, rs180177215, rs180177217, rs180177219, rs180177220, rs180177221, rs180177222, rs180177223, rs180177224, rs180177225, rs180177231, rs180177232, rs180177233, rs180177234, rs180177235, rs180177236, rs180177237, rs180177240, rs180177241, rs180177243, rs180177244, rs796052062, rs180177245, rs180177246, rs536352238, rs180177247, rs180177248, rs180177250, rs180177251, rs180177252, rs180177254, rs111996685, rs111742810, rs180177256, rs1553648931, rs180177257, rs180177258, rs180177261, rs796052072, rs180177263, rs180177264, rs180177265, rs796052068, rs180177269, rs180177270, rs180177272, rs180177273, rs180177276, rs180177279, rs180177284, rs180177281, rs180177286, rs180177285, rs180177287, rs180177288, rs180177292, rs180177293, rs180177294, rs180177295, rs180177296, rs180177297, rs180177298, rs796052063, rs180177299, rs796052074, rs180177300, rs180177302, rs796052064, rs180177303, rs180177155, rs756437332, rs796052065, rs180177158, rs180177160, rs180177161, rs180177163, rs180177164, rs796052066, rs180177255, rs180177289, rs796052077, rs180177311, rs180177319, rs180177304, rs180177305, rs796052078, rs796052081, rs180177308, rs180177309, rs180177313, rs180177314, rs180177315, rs180177316, rs796052082, rs180177317, rs180177324, rs180177325, rs746419489, rs764396564, rs758304537, rs796052084, rs796052088, rs796052089, rs150702945, rs767405535, rs796052090, rs202047589, rs185803104, rs796052085, rs755562733, rs796052086, rs770050262, rs756489804, rs796052087, rs149150736, rs777046879, rs796052091, rs796052092, rs1057516896, rs751101495, rs1057517398, rs1057517238, rs1057516299, rs1057517333, rs1057517026, rs771019056, rs1057516990, rs1057516292, rs1057516823, rs1057516831, rs1419840309, rs757796926, rs1553648568, rs778567956, rs112673831, rs1553649375, rs1553648488, rs1553648493, rs1553649007, rs1554746094, rs1244822375, rs1554746097, rs1554746565, rs1422977131, rs1331106064, rs1554746793, rs1257080057, rs1554748528, rs1554748598, rs777683624, rs776817346, rs779208888, rs1554747871, rs111256477, rs1554747933, rs1554748534, rs1554748574, rs1425736036, rs1554874130, rs1554874148, rs746776892, rs990830655, rs752277936, rs749315029, rs1564297234, rs1564753668, rs924232072, rs1564300888, rs1564760008, rs774654020, rs1588757756, rs148049120, rs1553648979, rs1822898131	16284884
Hypertension	Hypertensive disease	rs13306026, rs13333226	20667508, 27292124
Metabolic syndrome	Metabolic Syndrome X	rs367643250, rs587777380, rs777736953	16188961, 18486454
Moyamoya disease	Arterial Diseases, Common Carotid	rs121434527, rs121434528, rs387906592, rs397514563, rs797045187, rs1555675538, rs1568149971, rs1599150380, rs2079443410	18022660
Multiple myeloma	Multiple Myeloma	rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962, rs751524927, rs1575079076, rs1575446356, rs1478603808, rs1578264146, rs1578673280, rs1579484570, rs1579491104, rs1171390403, rs1582867955, rs764264135, rs951047896, rs890521687, rs1581495906, rs1587941402, rs1003155450, rs1588299621, rs1591100766, rs1591693095, rs1029296641, rs1593107841, rs1208575764, rs1593835248, rs1594406727, rs1594966387, rs1595889508, rs1159294530, rs1597073318, rs1135402871, rs1599413207, rs1418268495, rs1212577459, rs1600394490, rs1455074519, rs1603113792, rs1603415028, rs1602247047, rs1603452612	16918137
Myocardial infarction	Myocardial Failure	rs12316150, rs41303970, rs909253, rs7291467, rs2234693	29959987
Neural tube defect	Neural Tube Defects	rs121918220, rs121434297, rs137853061, rs137853062, rs3127334, rs267607167, rs267607168, rs387907204, rs139365610, rs137955120, rs786201015, rs786201016, rs768434408, rs777661576, rs747846362, rs200137991, rs780014899, rs574132670, rs786204013, rs147257424, rs763539350, rs776483190, rs757259023, rs781461462, rs762921297, rs1114167354, rs557643577, rs147277149, rs765586205, rs377443637, rs1563593163, rs1303000329, rs1565818580, rs986604359, rs1293600145, rs114727354, rs146357218, rs768980918, rs140277700, rs139645527, rs750323424, rs368321176, rs1579619636, rs893229476, rs754990692, rs763079713, rs1593037878, rs747100389, rs372056091, rs1593083585, rs778121031, rs748778907, rs776969786, rs1189298981, rs375908206, rs1734858651, rs778738842
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	29035695
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917737, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578	17720292, 26163174, 16324872
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	18486454
Tumoral calcinosis	Tumoral calcinosis	rs104894343, rs104894344, rs745655924, rs137853086, rs375879489, rs761396172, rs137853087, rs137853091, rs137853088, rs137853089, rs137853090, rs766750282, rs760830864, rs786205250, rs267606841, rs1555096583, rs1220533001, rs762936774, rs775341386	21335463, 21193197

Unknown
Disease name	Disease term	dbSNP ID	References
Acrania	Acrania
Alveolitis	Alveolitis, Fibrosing		17720292, 26163174, 16324872
Atherosclerosis	Atherosclerosis	rs699947, rs59439148	12928151, 12677255, 20720404
Cerebral infraction	Infarction, Middle Cerebral Artery		12374626, 25257527, 23043544
Bright disease	Bright Disease		10385480
Bronchial hyperreactivity	Bronchial Hyperreactivity		12388339
Cardiac valvular disease	Heart valve disease		21335463
Cardiovascular diseases	Cardiovascular Diseases		16332659
Carotid artery disease	Carotid Artery Diseases, External Carotid Artery Diseases, Internal Carotid Artery Diseases		18022660
Carotid atherosclerosis	Carotid Atherosclerosis		18022660
Cerebral ischemia	Brain Ischemia		17394460, 15829914
Cerebral thrombosis	Middle Cerebral Artery Thrombosis		25257527, 23043544, 12374626
Autoimmune hepatitis	Autoimmune Chronic Hepatitis		21227906
Compensatory hyperinsulinemia	Compensatory Hyperinsulinemia		29035695
Posterolateral diaphragmatic hernia	Congenital hernia of foramen of Bochdalek		30418988
Morgagni diaphragmatic hernia	Congenital hernia of foramen of Morgagni		30418988
Congestive heart failure	Congestive heart failure	rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569	29959987
Conus medullaris syndrome	Conus Medullaris Syndrome		15135227
Coronary arteriosclerosis	Coronary Arteriosclerosis		16934270, 11500196
Craniorachischisis	Craniorachischisis
Crohn disease	Crohn Disease, Regional enteritis	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	21829567
Crohn`s disease of large bowel	Crohn`s disease of large bowel		21829567
Crohn`s disease of the ileum	Crohn`s disease of the ileum		21829567
Diabetic nephropathy	Diabetic Nephropathy		16374426
Diastematomyelia	Diastematomyelia
Endogenous hyperinsulinism	Endogenous Hyperinsulinism		29035695
Endometrial neoplasms	Endometrial Neoplasms		17380299
Exogenous hyperinsulinism	Exogenous Hyperinsulinism		29035695
Fatty liver	Fatty Liver, Steatohepatitis		29684222
Glomerulosclerosis	Nodular glomerulosclerosis		16374426
Grand mal status epilepticus	Grand Mal Status Epilepticus		19490431, 20034406
Heart failure	Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided	rs121918074, rs142027794, rs148791216, rs72648927, rs71578935, rs142416150, rs199830512, rs755445214, rs150102469, rs779568205, rs907992794, rs1202130741	29959987
Hyperglycemia	Hyperglycemia		29035695
Ileocolitis	IIeocolitis		21829567
Kidney failure	Kidney Failure, Chronic		19539174, 19420110
Lipoma	Lipoma
Liver cirrhosis	Liver Cirrhosis		20697377
Liver fibrosis	Fibrosis, Liver		20697377
Manic disorder	Manic		24607605
Meningomyelocele	Meningomyelocele
Mental depression	Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	15296827
Mouth neoplasms	Mouth Neoplasms		25199511
Malignant neoplasm of mouth	Malignant neoplasm of mouth		25199511
Multiple lipomata	Multiple lipomata
Myocardial ischemia	Myocardial Ischemia		16214533
Nephritis	Nephritis, Interstitial, Nephritis, Tubulointerstitial		10385480
Neurenteric cyst	Neurenteric Cyst
Nonconvulsive status epilepticus	Non-Convulsive Status Epilepticus		20034406, 19490431
Petit mal status	Petit mal status		20034406, 19490431
Pleural diseases	Pleural Diseases		10923243
Primary tethered cord syndrome	Tethered Cord Syndrome
Rachischisis	Rachischisis		16596675
Respiratory distress syndrome	Respiratory Distress Syndrome, Adult		25070658
Sacral agenesis	Sacral agenesis
Spina bifida	Spina Bifida		16596675
Spina bifida occulta	Spina Bifida Occulta
Spinal cord compression	Compression of spinal cord		15135227
Spinal cord myelodysplasia	Spinal Cord Myelodysplasia
Status dysraphicus	Status Dysraphicus		16596675
Status epilepticus	Status Epilepticus, Complex Partial Status Epilepticus, Status Epilepticus, Subclinical		19490431, 20034406, 20034406, 19490431
Thyroid neoplasm	Thyroid Neoplasm		26037280
Thyroid carcinoma	Thyroid carcinoma		26037280
Thyroid diseases	Thyroid Diseases		23397585
Thyroid gland follicular adenoma	Thyroid Gland Follicular Adenoma		26037280