CXCR4 (C-X-C motif chemokine receptor 4)

Gene

• Entrez ID: 7852
• Gene name: C-X-C motif chemokine receptor 4
• Gene symbol: CXCR4
• Synonyms: CD184, D2S201E, FB22, HM89, HSY3RR, LAP-3, LAP3, LCR1, LESTR, NPY3R, NPYR, NPYRL, NPYY3R, WHIM, WHIMS, WHIMS1
• Chromosome: 2
• Chromosome location: 2q22.1
• Summary: This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000006	hsa-miR-146a-5p	qRT-PCR, Luciferase reporter assay, Western blot	18568019
MIRT000006	hsa-miR-146a-5p	qRT-PCR, Luciferase reporter assay, Western blot	18568019
MIRT000006	hsa-miR-146a-5p	qRT-PCR, Luciferase reporter assay, Western blot	18568019
MIRT000006	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	18568019
MIRT000006	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	18568019
MIRT000006	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	18568019
MIRT000635	hsa-miR-224-5p	Luciferase reporter assay, qRT-PCR, Western blot	20023705
MIRT006668	hsa-miR-150-5p	FACS, Western blot	22039399
MIRT000006	hsa-miR-146a-5p	Microarray	20375304
MIRT030235	hsa-miR-26b-5p	Microarray	19088304
MIRT054160	hsa-miR-139-5p	ChIP-seq, Flow, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21925125
MIRT054160	hsa-miR-139-5p	ChIP-seq, Flow, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21925125
MIRT054425	hsa-miR-126-3p	qRT-PCR, Western blot	24532280
MIRT054715	hsa-miR-9-5p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24318902
MIRT054425	hsa-miR-126-3p	Luciferase reporter assay, Western blot	23744532
MIRT054425	hsa-miR-126-3p	Luciferase reporter assay, Western blot	23744532
MIRT054425	hsa-miR-126-3p	Luciferase reporter assay, Western blot	23744532
MIRT054425	hsa-miR-126-3p	Luciferase reporter assay, Western blot	23744532
MIRT054715	hsa-miR-9-5p	Luciferase reporter assay, Western blot	24141785
MIRT054715	hsa-miR-9-5p	Luciferase reporter assay, Western blot	24141785
MIRT438701	hsa-miR-494-3p	Immunocytochemistry, Luciferase reporter assay, qRT-PCR, Western blot	24644030
MIRT438214	hsa-miR-133b	Luciferase reporter assay, qRT-PCR, Western blot	24330809
MIRT438214	hsa-miR-133b	Luciferase reporter assay, qRT-PCR, Western blot	24330809
MIRT054715	hsa-miR-9-5p	Luciferase reporter assay	24170200
MIRT054715	hsa-miR-9-5p	Luciferase reporter assay	24170200
MIRT054425	hsa-miR-126-3p	Luciferase reporter assay	24189753
MIRT054425	hsa-miR-126-3p	Luciferase reporter assay	24189753
MIRT054715	hsa-miR-9-5p	Luciferase reporter assay, Western blot	24141785
MIRT054715	hsa-miR-9-5p	Luciferase reporter assay, Western blot	24141785
MIRT438701	hsa-miR-494-3p	Immunocytochemistry, Luciferase reporter assay, qRT-PCR, Western blot	24644030
MIRT438214	hsa-miR-133b	Luciferase reporter assay, qRT-PCR, Western blot	24330809
MIRT438214	hsa-miR-133b	Luciferase reporter assay, qRT-PCR, Western blot	24330809
MIRT054715	hsa-miR-9-5p	Luciferase reporter assay	24170200
MIRT054715	hsa-miR-9-5p	Luciferase reporter assay	24170200
MIRT054425	hsa-miR-126-3p	Luciferase reporter assay	24189753
MIRT054425	hsa-miR-126-3p	Luciferase reporter assay	24189753
MIRT731652	hsa-miR-622	ChIP-seq, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	26404566
MIRT731652	hsa-miR-622	ChIP-seq, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	26404566
MIRT731652	hsa-miR-622	Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	26404566
MIRT731652	hsa-miR-622	Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	26404566
MIRT000006	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26082201
MIRT731652	hsa-miR-622	Luciferase reporter assay, qRT-PCR, Western blot	26082201
MIRT733087	hsa-miR-381-3p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), Immunohistochemistry (IHC), qRT-PCR, In situ hybridization	31815619
MIRT733087	hsa-miR-381-3p	Luciferase reporter assay, qRT-PCR, Western blotting	32016478
MIRT054715	hsa-miR-9-5p	Luciferase reporter assay, qRT-PCR, Western blotting	32635336
MIRT734511	hsa-miR-330-5p	Western blotting	32665904
MIRT734526	hsa-miR-143-3p	qRT-PCR	32449873
MIRT734935	hsa-miR-148a-3p	RNA-seq, Flow cytometry, ELISA	33336366
MIRT736049	hsa-miR-140-3p	Luciferase reporter assay, Western blotting, qRT-PCR	32101839
MIRT054160	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR	34070538
MIRT737210	hsa-miR-127-5p	Western blotting, RNA-seq, Immunofluorescence, ELISA	31719921
MIRT737311	hsa-miR-204-3p	Luciferase reporter assay, qRT-PCR	32521912
MIRT000006	hsa-miR-146a-5p	Western blotting, qRT-PCR	37095967
MIRT756120	hsa-miR-1-3p	Luciferase reporter assay, qRT-PCR, RNA-seq, ChIP-seq, Flow cytometry	36597126
MIRT000006	hsa-miR-146a-5p	qRT-PCR	36415628
MIRT918223	hsa-miR-1910	CLIP-seq
MIRT918224	hsa-miR-204	CLIP-seq
MIRT918225	hsa-miR-211	CLIP-seq
MIRT918226	hsa-miR-3120-3p	CLIP-seq
MIRT918227	hsa-miR-3148	CLIP-seq
MIRT918228	hsa-miR-3187-3p	CLIP-seq
MIRT918229	hsa-miR-3653	CLIP-seq
MIRT918230	hsa-miR-3658	CLIP-seq
MIRT918231	hsa-miR-4435	CLIP-seq
MIRT918232	hsa-miR-4511	CLIP-seq
MIRT918233	hsa-miR-4681	CLIP-seq
MIRT918234	hsa-miR-4701-5p	CLIP-seq
MIRT918235	hsa-miR-4755-5p	CLIP-seq
MIRT918236	hsa-miR-4773	CLIP-seq
MIRT918237	hsa-miR-548b-3p	CLIP-seq
MIRT918238	hsa-miR-548s	CLIP-seq
MIRT918239	hsa-miR-588	CLIP-seq
MIRT918240	hsa-miR-623	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CREB1	Unknown	11874984
CREB3	Activation	20473547
DNMT1	Repression	19932585
ERG	Activation	19396168;23918819
ETS1	Unknown	21741415
FOXO1	Activation	20068066
HDAC3	Repression	20473547
HIF1A	Activation	17075581
HIF1A	Unknown	19212630
IRF2	Repression	21447649
KLF2	Repression	19671192
KLF5	Activation	19460858
MYC	Activation	10229837
NFKB1	Activation	12690099;20068066
NFKB1	Unknown	20157762
NRF1	Activation	10381170;20068066
PAX3	Activation	20068066
RELA	Activation	12690099;16267013;20068066
RELA	Unknown	20157762
SNAI2	Activation	22074556
USF1	Activation	10229837
USF2	Activation	10229837
VHL	Repression	13679920
YBX1	Activation	17072343
YY1	Repression	10229837;11145693;12571248;15737629;15805285;20068066
YY1	Unknown	14563373
ZBTB16	Activation	18568019

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000187	Process	Activation of MAPK activity	TAS	10570282
GO:0001618	Function	Virus receptor activity	IEA
GO:0001666	Process	Response to hypoxia	IEP	15174142
GO:0001764	Process	Neuron migration	IEA
GO:0002064	Process	Epithelial cell development	IEA
GO:0002407	Process	Dendritic cell chemotaxis	TAS	16621978
GO:0003779	Function	Actin binding	IDA	12421915
GO:0004930	Function	G protein-coupled receptor activity	TAS	8276799
GO:0005515	Function	Protein binding	IPI	10644702, 12421915, 15660419, 17077324, 18632580, 18765807, 19106094, 19380869, 19665027, 20215400, 20802527, 21730065, 23170857, 23773523, 23926103, 24094005, 25775528, 27331810, 28862946, 28978524, 29386406, 29426850
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	TAS	10415069
GO:0005764	Component	Lysosome	IDA	21540189
GO:0005764	Component	Lysosome	IDA	24790097
GO:0005769	Component	Early endosome	IDA	21540189
GO:0005769	Component	Early endosome	IDA	24790097
GO:0005770	Component	Late endosome	IDA	21540189
GO:0005886	Component	Plasma membrane	IDA	19665027, 21540189
GO:0005886	Component	Plasma membrane	TAS
GO:0006915	Process	Apoptotic process	TAS	10942389
GO:0006954	Process	Inflammatory response	TAS	8276799
GO:0006955	Process	Immune response	IBA	21873635
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	10644702
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IBA	21873635
GO:0007411	Process	Axon guidance	TAS
GO:0007420	Process	Brain development	IBA	21873635
GO:0008038	Process	Neuron recognition	IEA
GO:0009615	Process	Response to virus	TAS	10583963
GO:0009897	Component	External side of plasma membrane	IBA	21873635
GO:0009986	Component	Cell surface	IDA	10521508, 10644702, 18308860, 19106094, 19665027, 23620790
GO:0014823	Process	Response to activity	IEA
GO:0015026	Function	Coreceptor activity	TAS	10754293
GO:0016021	Component	Integral component of membrane	IEA
GO:0016493	Function	C-C chemokine receptor activity	IBA	21873635
GO:0016494	Function	C-X-C chemokine receptor activity	NAS	9468539
GO:0019064	Process	Fusion of virus membrane with host plasma membrane	TAS
GO:0019722	Process	Calcium-mediated signaling	IBA	21873635
GO:0019722	Process	Calcium-mediated signaling	IMP	19064997
GO:0019957	Function	C-C chemokine binding	IBA	21873635
GO:0019957	Function	C-C chemokine binding	IPI	25612609
GO:0022008	Process	Neurogenesis	IBA	21873635
GO:0022029	Process	Telencephalon cell migration	IEA
GO:0030054	Component	Cell junction	IEA
GO:0030155	Process	Regulation of cell adhesion	IDA	19703720
GO:0031252	Component	Cell leading edge	IDA	12421915
GO:0031410	Component	Cytoplasmic vesicle	IDA	10521508, 19106094
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	19116316
GO:0032027	Function	Myosin light chain binding	IDA	12421915
GO:0032991	Component	Protein-containing complex	IDA	19665027
GO:0032991	Component	Protein-containing complex	IMP	25612609
GO:0035470	Process	Positive regulation of vascular wound healing	IEA
GO:0035690	Process	Cellular response to drug	IEA
GO:0038147	Function	C-X-C motif chemokine 12 receptor activity	IDA	28978524
GO:0038160	Process	CXCL12-activated CXCR4 signaling pathway	IDA	28978524
GO:0038160	Process	CXCL12-activated CXCR4 signaling pathway	IMP	24912431
GO:0042802	Function	Identical protein binding	IPI	19380869, 23170857
GO:0043067	Process	Regulation of programmed cell death	IEA
GO:0043130	Function	Ubiquitin binding	IDA	20228059
GO:0043217	Process	Myelin maintenance	ISS
GO:0043278	Process	Response to morphine	IEA
GO:0045446	Process	Endothelial cell differentiation	IEA
GO:0048714	Process	Positive regulation of oligodendrocyte differentiation	ISS
GO:0050792	Process	Regulation of viral process	IEA
GO:0050920	Process	Regulation of chemotaxis	IMP	19106094
GO:0050921	Process	Positive regulation of chemotaxis	IEA
GO:0050965	Process	Detection of temperature stimulus involved in sensory perception of pain	IEA
GO:0050966	Process	Detection of mechanical stimulus involved in sensory perception of pain	IEA
GO:0051924	Process	Regulation of calcium ion transport	IEA
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:0060326	Process	Cell chemotaxis	IBA	21873635
GO:0061154	Process	Endothelial tube morphogenesis	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0071345	Process	Cellular response to cytokine stimulus	IDA	21540189
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	25016030
GO:1903861	Process	Positive regulation of dendrite extension	IEA
GO:1905322	Process	Positive regulation of mesenchymal stem cell migration	IEA
GO:1990478	Process	Response to ultrasound	IEA
GO:2000448	Process	Positive regulation of macrophage migration inhibitory factor signaling pathway	IMP	19665027

Other IDs

• MIM: 162643
• HGNC: 2561
• e!Ensembl: ENSG00000121966

Protein

• UniProt ID: P61073
• Protein name: C-X-C chemokine receptor type 4 (CXC-R4) (CXCR-4) (FB22) (Fusin) (HM89) (LCR1) (Leukocyte-derived seven transmembrane domain receptor) (LESTR) (Lipopolysaccharide-associated protein 3) (LAP-3) (LPS-associated protein 3) (NPYRL) (Stromal cell-derived facto
• Protein function: Receptor for the C-X-C chemokine CXCL12/SDF-1 that transduces a signal by increasing intracellular calcium ion levels and enhancing MAPK1/MAPK3 activation (PubMed:10452968, PubMed:18799424, PubMed:24912431, PubMed:28978524). Involved in the AKT
• PDB: 2K03, 2K04, 2K05, 2N55, 3ODU, 3OE0, 3OE6, 3OE8, 3OE9, 4RWS, 8GP3, 8I0Q, 8K3Z, 8U4N, 8U4O, 8U4P, 8U4Q, 8U4R, 8U4S, 8U4T, 8YU7, 8ZPL, 8ZPM, 8ZPN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12109	CXCR4_N	6 → 38	CXCR4 Chemokine receptor N terminal	Domain
  PF00001	7tm_1	55 → 302	7 transmembrane receptor (rhodopsin family)	Family

• Sequence:

  MEGISIYTSDNYTEEMGSGDYDSMKEPCFREENANFNKIFLPTIYSIIFLTGIVGNGLVI
  LVMGYQKKLRSMTDKYRLHLSVADLLFVITLPFWAVDAVANWYFGNFLCKAVHVIYTVNL
  YSSVLILAFISLDRYLAIVHATNSQRPRKLLAEKVVYVGVWIPALLLTIPDFIFANVSEA
  DDRYICDRFYPNDLWVVVFQFQHIMVGLILPGIVILSCYCIIISKLSHSKGHQKRKALKT
  TVILILAFFACWLPYYIGISIDSFILLEIIKQGCEFENTVHKWISITEALAFFHCCLNPI
  LYAFLGAKFKTSAQHALTSVSRGSSLKILSKGKRGGHSSVSTESESSSFHSS

• Sequence length: 352

Pathways

KEGG:

Viral life cycle - HIV-1
Virion - Human immunodeficiency virus
Calcium signaling pathway
Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
Chemokine signaling pathway
Endocytosis
Axon guidance
Leukocyte transendothelial migration
Intestinal immune network for IgA production
Regulation of actin cytoskeleton
Human cytomegalovirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer

Reactome:

Binding and entry of HIV virion
Signaling by ROBO receptors
Chemokine receptors bind chemokines
G alpha (i) signalling events

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	19565504, 26387944
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	25753200
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	25753200
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
Cervical cancer	cervical cancer	rs28934571, rs121913482, rs121913483
Congenital neutropenia	Congenital neutropenia	rs118203968, rs118203969, rs118203970, rs118203971, rs267606834, rs28936381, rs137854447, rs137854448, rs137854450, rs28931611, rs137854451, rs200478425, rs587777730, rs606231474, rs606231475, rs606231473, rs775224457, rs769441127, rs148559256, rs797044567, rs796065343, rs797045009, rs878855315, rs1555710005, rs879253750, rs879253882, rs1555354200, rs1555354198, rs1555354750, rs890101650, rs759302795, rs57246956, rs138156467, rs1194477276, rs1570588220, rs757401069, rs745582203, rs1191239079, rs1597905369, rs1599294750, rs1594996301, rs1595004126, rs1595004676, rs756667927, rs34019455	12692554, 15536153
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	25753200
Melanoma	melanoma, Cutaneous Melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050
Neutropenia	Neutropenia	rs879253882
Periodontitis	Severe periodontitis	rs28937571, rs104894211, rs587777534
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	19192274
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288

Unknown
Disease name	Disease term	dbSNP ID	References
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		25753200
Juvenile arthritis	Juvenile psoriatic arthritis		26387944, 19565504
Lymphadenitis	Lymphadenitis
Lymphopenia	Lymphopenia
Myelokathexis	Myelokathexis
Nephrosclerosis	Nephrosclerosis		30818366
Otitis media	Otitis Media	rs601338, rs1047781, rs1800028
Parotitis	Parotitis
Pharyngitis	Pharyngitis
Seronegative polyarthritis	Polyarthritis, Juvenile, Rheumatoid Factor Negative		19565504, 26387944
Polyarthritis, rheumatoid factor positive	Polyarthritis, Juvenile, Rheumatoid Factor Positive		19565504, 26387944
Sinusitis	Sinusitis
Speech disorders	Speech Disorders
Still disease	Juvenile-Onset Still Disease		19565504, 26387944
Vitiligo	Vitiligo