JAG2 (jagged canonical Notch ligand 2)

Gene

• Entrez ID: 3714
• Gene name: Jagged canonical Notch ligand 2
• Gene symbol: JAG2
• Synonyms: HJ2, LGMDR27, SER2
• Chromosome: 14
• Chromosome location: 14q32.33
• Summary: The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016805	hsa-miR-335-5p	Microarray	18185580
MIRT022161	hsa-miR-124-3p	Microarray	18668037
MIRT049515	hsa-miR-92a-3p	CLASH	23622248
MIRT042161	hsa-miR-484	CLASH	23622248
MIRT053421	hsa-miR-624-3p	Microarray	23807165
MIRT647293	hsa-miR-6165	HITS-CLIP	23824327
MIRT647292	hsa-miR-8083	HITS-CLIP	23824327
MIRT647291	hsa-miR-214-3p	HITS-CLIP	23824327
MIRT647290	hsa-miR-3619-5p	HITS-CLIP	23824327
MIRT647289	hsa-miR-761	HITS-CLIP	23824327
MIRT647288	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT647287	hsa-miR-1286	HITS-CLIP	23824327
MIRT647286	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT647285	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT647284	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT647283	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT647282	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT647281	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT647280	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT647278	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT647279	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT731729	hsa-miR-410-3p	Immunofluorescence, Microarray, qRT-PCR, Western blot	25998143
MIRT731729	hsa-miR-410-3p	Immunofluorescence, Microarray, qRT-PCR, Western blot	25998143
MIRT647293	hsa-miR-6165	HITS-CLIP	23824327
MIRT647292	hsa-miR-8083	HITS-CLIP	23824327
MIRT647291	hsa-miR-214-3p	HITS-CLIP	23824327
MIRT647290	hsa-miR-3619-5p	HITS-CLIP	23824327
MIRT647289	hsa-miR-761	HITS-CLIP	23824327
MIRT647288	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT647287	hsa-miR-1286	HITS-CLIP	23824327
MIRT647286	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT647285	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT647284	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT647283	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT647282	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT647281	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT647280	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT647278	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT647279	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT1075945	hsa-miR-1227	CLIP-seq
MIRT1075946	hsa-miR-2115	CLIP-seq
MIRT1075947	hsa-miR-3671	CLIP-seq
MIRT1075948	hsa-miR-4517	CLIP-seq
MIRT1075949	hsa-miR-4643	CLIP-seq
MIRT1075950	hsa-miR-466	CLIP-seq
MIRT1075951	hsa-miR-4789-3p	CLIP-seq
MIRT1075952	hsa-miR-4797-5p	CLIP-seq
MIRT1075953	hsa-miR-485-3p	CLIP-seq
MIRT1075954	hsa-miR-516a-3p	CLIP-seq
MIRT1075955	hsa-miR-520d-5p	CLIP-seq
MIRT1075956	hsa-miR-520f	CLIP-seq
MIRT1075957	hsa-miR-524-5p	CLIP-seq
MIRT1075958	hsa-miR-759	CLIP-seq
MIRT1075959	hsa-miR-889	CLIP-seq
MIRT1075960	hsa-miR-1224-3p	CLIP-seq
MIRT1075961	hsa-miR-1229	CLIP-seq
MIRT1075962	hsa-miR-1256	CLIP-seq
MIRT1075963	hsa-miR-1260	CLIP-seq
MIRT1075964	hsa-miR-1260b	CLIP-seq
MIRT1075965	hsa-miR-1280	CLIP-seq
MIRT1075966	hsa-miR-136	CLIP-seq
MIRT1075967	hsa-miR-148a	CLIP-seq
MIRT1075968	hsa-miR-148b	CLIP-seq
MIRT1075969	hsa-miR-152	CLIP-seq
MIRT1075970	hsa-miR-193a-5p	CLIP-seq
MIRT1075946	hsa-miR-2115	CLIP-seq
MIRT1075971	hsa-miR-30a	CLIP-seq
MIRT1075972	hsa-miR-30b	CLIP-seq
MIRT1075973	hsa-miR-30c	CLIP-seq
MIRT1075974	hsa-miR-30d	CLIP-seq
MIRT1075975	hsa-miR-30e	CLIP-seq
MIRT1075976	hsa-miR-3145-5p	CLIP-seq
MIRT1075977	hsa-miR-3157-5p	CLIP-seq
MIRT1075978	hsa-miR-3607-3p	CLIP-seq
MIRT1075947	hsa-miR-3671	CLIP-seq
MIRT1075979	hsa-miR-3686	CLIP-seq
MIRT1075980	hsa-miR-3918	CLIP-seq
MIRT1075981	hsa-miR-4272	CLIP-seq
MIRT1075948	hsa-miR-4517	CLIP-seq
MIRT1075982	hsa-miR-4640-5p	CLIP-seq
MIRT1075949	hsa-miR-4643	CLIP-seq
MIRT1075950	hsa-miR-466	CLIP-seq
MIRT1075983	hsa-miR-4685-5p	CLIP-seq
MIRT1075984	hsa-miR-4691-3p	CLIP-seq
MIRT1075985	hsa-miR-4699-5p	CLIP-seq
MIRT1075986	hsa-miR-4705	CLIP-seq
MIRT1075987	hsa-miR-4726-5p	CLIP-seq
MIRT1075988	hsa-miR-4778-5p	CLIP-seq
MIRT1075951	hsa-miR-4789-3p	CLIP-seq
MIRT1075952	hsa-miR-4797-5p	CLIP-seq
MIRT1075989	hsa-miR-508-5p	CLIP-seq
MIRT1075954	hsa-miR-516a-3p	CLIP-seq
MIRT1075955	hsa-miR-520d-5p	CLIP-seq
MIRT1075956	hsa-miR-520f	CLIP-seq
MIRT1075957	hsa-miR-524-5p	CLIP-seq
MIRT1075958	hsa-miR-759	CLIP-seq
MIRT1075959	hsa-miR-889	CLIP-seq
MIRT2018850	hsa-miR-124	CLIP-seq
MIRT2018851	hsa-miR-151-5p	CLIP-seq
MIRT2018852	hsa-miR-151b	CLIP-seq
MIRT2018853	hsa-miR-200b	CLIP-seq
MIRT2018854	hsa-miR-200c	CLIP-seq
MIRT1075946	hsa-miR-2115	CLIP-seq
MIRT2018855	hsa-miR-300	CLIP-seq
MIRT2018856	hsa-miR-3135b	CLIP-seq
MIRT2018857	hsa-miR-3138	CLIP-seq
MIRT2018858	hsa-miR-3180	CLIP-seq
MIRT2018859	hsa-miR-3180-3p	CLIP-seq
MIRT2018860	hsa-miR-3184	CLIP-seq
MIRT2018861	hsa-miR-3196	CLIP-seq
MIRT2018862	hsa-miR-3611	CLIP-seq
MIRT2018863	hsa-miR-3660	CLIP-seq
MIRT1075947	hsa-miR-3671	CLIP-seq
MIRT2018864	hsa-miR-381	CLIP-seq
MIRT2018865	hsa-miR-423-5p	CLIP-seq
MIRT2018866	hsa-miR-429	CLIP-seq
MIRT2018867	hsa-miR-4427	CLIP-seq
MIRT2018868	hsa-miR-4493	CLIP-seq
MIRT2018869	hsa-miR-4520a-3p	CLIP-seq
MIRT2018870	hsa-miR-4526	CLIP-seq
MIRT2018871	hsa-miR-4645-3p	CLIP-seq
MIRT2018872	hsa-miR-4666-3p	CLIP-seq
MIRT1075986	hsa-miR-4705	CLIP-seq
MIRT2018873	hsa-miR-4724-5p	CLIP-seq
MIRT2018874	hsa-miR-4736	CLIP-seq
MIRT2018875	hsa-miR-4737	CLIP-seq
MIRT2018876	hsa-miR-4767	CLIP-seq
MIRT2018877	hsa-miR-4779	CLIP-seq
MIRT2018878	hsa-miR-4789-5p	CLIP-seq
MIRT1075952	hsa-miR-4797-5p	CLIP-seq
MIRT1075953	hsa-miR-485-3p	CLIP-seq
MIRT2018879	hsa-miR-506	CLIP-seq
MIRT1075954	hsa-miR-516a-3p	CLIP-seq
MIRT1075955	hsa-miR-520d-5p	CLIP-seq
MIRT1075956	hsa-miR-520f	CLIP-seq
MIRT1075957	hsa-miR-524-5p	CLIP-seq
MIRT1075958	hsa-miR-759	CLIP-seq
MIRT2018880	hsa-miR-935	CLIP-seq
MIRT1075977	hsa-miR-3157-5p	CLIP-seq
MIRT1075984	hsa-miR-4691-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0003016	Process	Respiratory system process	IEA
GO:0005112	Function	Notch binding	IBA	21873635
GO:0005112	Function	Notch binding	IPI	9315665
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	16713569
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	ISS	10910909
GO:0007219	Process	Notch signaling pathway	NAS	11056013
GO:0007219	Process	Notch signaling pathway	TAS
GO:0007283	Process	Spermatogenesis	IEP	11700865
GO:0008083	Function	Growth factor activity	IDA	10383933
GO:0009912	Process	Auditory receptor cell fate commitment	ISS	10080181
GO:0016331	Process	Morphogenesis of embryonic epithelium	IEA
GO:0030154	Process	Cell differentiation	IDA	11700865
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030217	Process	T cell differentiation	IDA	10383933
GO:0042127	Process	Regulation of cell population proliferation	IDA	10383933
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042492	Process	Gamma-delta T cell differentiation	IEA
GO:0045061	Process	Thymic T cell selection	IDA	10383933
GO:0045747	Process	Positive regulation of Notch signaling pathway	ISS
GO:1990134	Process	Epithelial cell apoptotic process involved in palatal shelf morphogenesis	IEA

Other IDs

• MIM: 602570
• HGNC: 6189
• e!Ensembl: ENSG00000184916

Protein

• UniProt ID: Q9Y219
• Protein name: Protein jagged-2 (Jagged2) (hJ2)
• Protein function: Putative Notch ligand involved in the mediation of Notch signaling. Involved in limb development (By similarity).
• PDB: 5MW5, 5MW7, 5MWF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07657	MNNL	27 → 103	N terminus of Notch ligand	Family
  PF01414	DSL	178 → 240	Delta serrate ligand	Domain
  PF00008	EGF	311 → 343	EGF-like domain	Domain
  PF00008	EGF	351 → 381	EGF-like domain	Domain
  PF00008	EGF	389 → 419	EGF-like domain	Domain
  PF07645	EGF_CA	423 → 465	Calcium-binding EGF domain	Domain
  PF12661	hEGF	469 → 490	Human growth factor-like EGF	Domain
  PF12661	hEGF	507 → 528	Human growth factor-like EGF	Domain
  PF12661	hEGF	606 → 628	Human growth factor-like EGF	Domain
  PF00008	EGF	640 → 670	EGF-like domain	Domain
  PF00008	EGF	678 → 708	EGF-like domain	Domain
  PF00008	EGF	716 → 746	EGF-like domain	Domain
  PF00008	EGF	755 → 785	EGF-like domain	Domain
  PF00008	EGF	793 → 823	EGF-like domain	Domain
  PF00008	EGF	831 → 861	EGF-like domain	Domain

• Sequence:

  MRAQGRGRLPRRLLLLLALWVQAARPMGYFELQLSALRNVNGELLSGACCDGDGRTTRAG
  GCGHDECDTYVRVCLKEYQAKVTPTGPCSYGHGATPVLGGNSFYLPPAGAAGDRARARAR
  AGGDQDPGLVVIPFQFAWPRSFTLIVEAWDWDNDTTPNEELLIERVSHAGMINPEDRWKS
  LHFSGHVAHLELQIRVRCDENYYSATCNKFCRPRNDFFGHYTCDQYGNKACMDGWMGKEC
  KEAVCKQGCNLLHGGCTVPGECRCSYGWQGRFCDECVPYPGCVHGSCVEPWQCNCETNWG
  GLLCDKDLNYCGSHHPCTNGGTCINAEPDQYRCTCPDGYSGRNCEKAEHACTSNPCANGG
  SCHEVPSGFECHCPSGWSGPTCALDIDECASNPCAAGGTCVDQVDGFECICPEQWVGATC
  QLDANECEGKPCLNAFSCKNLIGGYYCDCIPGWKGINCHINVNDCRGQCQHGGTCKDLVN
  GYQCVCPRGFGGRHCELERDECASSPCHSGGLCEDLADGFHCHCPQGFSGPLCEVDVDLC
  EPSPCRNGARCYNLEGDYYCACPDDFGGKNCSVPREPCPGGACRVIDGCGSDAGPGMPGT
  AASGVCGPHGRCVSQPGGNFSCICDSGFTGTYCHENIDDCLGQPCRNGGTCIDEVDAFRC
  FCPSGWEGELCDTNPNDCLPDPCHSRGRCYDLVNDFYCACDDGWKGKTCHSREFQCDAYT
  CSNGGTCYDSGDTFRCACPPGWKGSTCAVAKNSSCLPNPCVNGGTCVGSGASFSCICRDG
  WEGRTCTHNTNDCNPLPCYNGGICVDGVNWFRCECAPGFAGPDCRINIDECQSSPCAYGA
  TCVDEINGYRCSCPPGRAGPRCQEVIGFGRSCWSRGTPFPHGSSWVEDCNSCRCLDGRRD
  CSKVWCGWKPCLLAGQPEALSAQCPLGQRCLEKAPGQCLRPPCEAWGECGAEEPPSTPCL
  PRSGHLDNNCARLTLHFNRDHVPQGTTVGAICSGIRSLPATRAVARDRLLVLLCDRASSG
  ASAVEVAVSFSPARDLPDSSLIQGAAHAIVAAITQRGNSSLLLAVTEVKVETVVTGGSST
  GLLVPVLCGAFSVLWLACVVLCVWWTRKRRKERERSRLPREESANNQWAPLNPIRNPIER
  PGGHKDVLYQCKNFTPPPRRADEALPGPAGHAAVREDEEDEDLGRGEEDSLEAEKFLSHK
  FTKDPGRSPGRPAHWASGPKVDNRAVRSINEARYAGKE

• Sequence length: 1238

Pathways

KEGG:

Endocrine resistance
Notch signaling pathway
Th1 and Th2 cell differentiation
Pathways in cancer
Breast cancer

Reactome:

Activated NOTCH1 Transmits Signal to the Nucleus
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
Constitutive Signaling by NOTCH1 HD Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
NOTCH3 Activation and Transmission of Signal to the Nucleus

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
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	21036696
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	21036696
Glioblastoma	Glioblastoma, Glioblastoma Multiforme	rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888	21127729
Lymphangiomyomatosis	Lymphangioleiomyomatosis	rs118203388, rs45483392, rs45517179, rs28934872, rs45517148, rs118203537, rs118203707, rs137854360, rs45517169, rs45517299, rs137854210, rs45517213, rs45517132, rs45514095, rs137854157, rs137854320, rs397514780, rs45517205, rs397514941, rs397515287, rs397515023, rs45517403, rs1588309702	20038814
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	21036696
Polysyndactyly	Polysyndactyly	rs1583729562, rs121917713	9531541
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	16899352
Syndactyly	Syndactyly	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304	9531541

Unknown
Disease name	Disease term	dbSNP ID	References
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		21036696
Giant cell glioblastoma	Giant Cell Glioblastoma		21127729
Pancreatic ductal carcinoma	Carcinoma, Pancreatic Ductal		19208345