CDKN2B (cyclin dependent kinase inhibitor 2B)

Gene

• Entrez ID: 1030
• Gene name: Cyclin dependent kinase inhibitor 2B
• Gene symbol: CDKN2B
• Synonyms: CDK4I, INK4B, MTS2, P15, TP15, p15INK4b
• Chromosome: 9
• Chromosome location: 9p21.3
• Summary: This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the ac

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016027	hsa-miR-374b-5p	Sequencing	20371350
MIRT019955	hsa-miR-375	Microarray	20215506
MIRT027714	hsa-miR-98-5p	Microarray	19088304
MIRT704749	hsa-miR-3617-5p	HITS-CLIP	23313552
MIRT704748	hsa-miR-641	HITS-CLIP	23313552
MIRT704747	hsa-miR-6895-5p	HITS-CLIP	23313552
MIRT704746	hsa-miR-3659	HITS-CLIP	23313552
MIRT704745	hsa-miR-4640-5p	HITS-CLIP	23313552
MIRT704744	hsa-miR-4726-5p	HITS-CLIP	23313552
MIRT704743	hsa-miR-4792	HITS-CLIP	23313552
MIRT704742	hsa-miR-4710	HITS-CLIP	23313552
MIRT704741	hsa-miR-4790-5p	HITS-CLIP	23313552
MIRT704740	hsa-miR-4658	HITS-CLIP	23313552
MIRT704739	hsa-miR-6790-5p	HITS-CLIP	23313552
MIRT704738	hsa-miR-7855-5p	HITS-CLIP	23313552
MIRT736770	hsa-miR-761	Luciferase reporter assay, Western blotting, RNA-seq, qRT-PCR	32336677
MIRT738198	hsa-miR-3976	HITS-CLIP	33718276
MIRT738199	hsa-miR-4662a-3p	HITS-CLIP	33718276
MIRT704749	hsa-miR-3617-5p	HITS-CLIP	23313552
MIRT704748	hsa-miR-641	HITS-CLIP	23313552
MIRT704747	hsa-miR-6895-5p	HITS-CLIP	23313552
MIRT704746	hsa-miR-3659	HITS-CLIP	23313552
MIRT704745	hsa-miR-4640-5p	HITS-CLIP	23313552
MIRT704744	hsa-miR-4726-5p	HITS-CLIP	23313552
MIRT704743	hsa-miR-4792	HITS-CLIP	23313552
MIRT704742	hsa-miR-4710	HITS-CLIP	23313552
MIRT704741	hsa-miR-4790-5p	HITS-CLIP	23313552
MIRT704740	hsa-miR-4658	HITS-CLIP	23313552
MIRT704739	hsa-miR-6790-5p	HITS-CLIP	23313552
MIRT704738	hsa-miR-7855-5p	HITS-CLIP	23313552
MIRT881854	hsa-miR-132	CLIP-seq
MIRT881855	hsa-miR-144	CLIP-seq
MIRT881856	hsa-miR-212	CLIP-seq
MIRT881857	hsa-miR-3130-5p	CLIP-seq
MIRT881858	hsa-miR-3167	CLIP-seq
MIRT881859	hsa-miR-4308	CLIP-seq
MIRT881860	hsa-miR-433	CLIP-seq
MIRT881861	hsa-miR-4482	CLIP-seq
MIRT881862	hsa-miR-4733-5p	CLIP-seq
MIRT881863	hsa-miR-4775	CLIP-seq
MIRT881864	hsa-miR-495	CLIP-seq
MIRT881865	hsa-miR-520d-5p	CLIP-seq
MIRT881866	hsa-miR-524-5p	CLIP-seq
MIRT881867	hsa-miR-556-3p	CLIP-seq
MIRT881868	hsa-miR-556-5p	CLIP-seq
MIRT881869	hsa-miR-590-3p	CLIP-seq
MIRT881870	hsa-miR-605	CLIP-seq
MIRT881871	hsa-miR-656	CLIP-seq
MIRT881872	hsa-miR-875-3p	CLIP-seq
MIRT881873	hsa-miR-876-5p	CLIP-seq
MIRT881874	hsa-miR-944	CLIP-seq
MIRT881875	hsa-miR-204	CLIP-seq
MIRT881876	hsa-miR-211	CLIP-seq
MIRT881877	hsa-miR-3143	CLIP-seq
MIRT881878	hsa-miR-4446-5p	CLIP-seq
MIRT881879	hsa-miR-4755-5p	CLIP-seq
MIRT881880	hsa-miR-543	CLIP-seq
MIRT881881	hsa-miR-623	CLIP-seq
MIRT1961263	hsa-miR-1256	CLIP-seq
MIRT1961264	hsa-miR-3161	CLIP-seq
MIRT1961265	hsa-miR-4666-5p	CLIP-seq
MIRT881863	hsa-miR-4775	CLIP-seq
MIRT1961266	hsa-miR-4802-3p	CLIP-seq
MIRT881869	hsa-miR-590-3p	CLIP-seq
MIRT2197998	hsa-miR-4685-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BCL6	Repression	22723377
DNMT1	Unknown	19545050
EP300	Unknown	19419955;22000024
EZH2	Repression	21697275
FOXO3	Unknown	19419955
KLF5	Unknown	19419955
SMAD4	Unknown	19419955
SMAD7	Repression	15555279
SP1	Unknown	10649433;7592908
SP3	Unknown	10649433;7592908
STAT5A	Repression	22723377
ZBTB17	Unknown	22000024

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000079	Process	Regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	8078588
GO:0000086	Process	G2/M transition of mitotic cell cycle	IMP	17553787
GO:0004861	Function	Cyclin-dependent protein serine/threonine kinase inhibitor activity	IDA	8078588
GO:0004861	Function	Cyclin-dependent protein serine/threonine kinase inhibitor activity	NAS	9230210
GO:0005515	Function	Protein binding	IPI	16169070, 16189514, 19447967, 21900206, 23455922, 23602568, 24981860, 25416956, 25910212, 26496610, 28514442, 31515488, 32296183
GO:0005634	Component	Nucleus	IDA	9230210, 18564286
GO:0005737	Component	Cytoplasm	IDA	9230210, 16943770
GO:0005829	Component	Cytosol	TAS
GO:0007050	Process	Cell cycle arrest	IMP	17553787
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	17553787
GO:0019901	Function	Protein kinase binding	IPI	8078588
GO:0030219	Process	Megakaryocyte differentiation	IEP	10812241
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IMP	16943770
GO:0031668	Process	Cellular response to extracellular stimulus	IMP	17553787
GO:0031670	Process	Cellular response to nutrient	IMP	17597576
GO:0042326	Process	Negative regulation of phosphorylation	IDA	8078588
GO:0045736	Process	Negative regulation of cyclin-dependent protein serine/threonine kinase activity	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS
GO:0048536	Process	Spleen development	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IMP	16943770
GO:0070316	Process	Regulation of G0 to G1 transition	IMP	17553787
GO:0090398	Process	Cellular senescence	IMP	17553787
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	TAS

Other IDs

• MIM: 600431
• HGNC: 1788
• e!Ensembl: ENSG00000147883

Protein

• UniProt ID: P42772
• Protein name: Cyclin-dependent kinase 4 inhibitor B (Multiple tumor suppressor 2) (MTS-2) (p14-INK4b) (p15-INK4b) (p15INK4B)
• Protein function: Interacts strongly with CDK4 and CDK6. Potent inhibitor. Potential effector of TGF-beta induced cell cycle arrest.
• Sequence:

  MREENKGMPSGGGSDEGLASAAARGLVEKVRQLLEAGADPNGVNRFGRRAIQVMMMGSAR
  VAELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLA
  EERGHRDVAGYLRTATGD

• Sequence length: 138

Pathways

KEGG:

FoxO signaling pathway
Cell cycle
Cellular senescence
TGF-beta signaling pathway
Cushing syndrome
Human T-cell leukemia virus 1 infection
Pathways in cancer
Viral carcinogenesis
Small cell lung cancer
Gastric cancer

Reactome:

SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
Oxidative Stress Induced Senescence
Senescence-Associated Secretory Phenotype (SASP)
Oncogene Induced Senescence
Cyclin D associated events in G1

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Adrenocortical adenoma	Adrenal Cortical Adenoma	rs121913035
Adrenocortical carcinoma	Adrenocortical carcinoma	rs121912656, rs28934874, rs121912662, rs786202525, rs121912664, rs397516435, rs121913343, rs587780070, rs121912666, rs55832599, rs587782144, rs587782272, rs587782529, rs587782620, rs587782664, rs587782705, rs193920817, rs55863639, rs730882029, rs730882005, rs730882025, rs730881999, rs786201838, rs786202962, rs863224451, rs863224499, rs760043106, rs11540652, rs11540654, rs876658483, rs587781525, rs1057519986, rs1057519989, rs530941076, rs1060501197, rs1064792930, rs1064794618, rs1131691042, rs1555526131, rs1057519990, rs1555526097, rs1567554500, rs1131691039, rs1202793339, rs769697802
Angiofibroma	Angiofibroma	rs121913034, rs267607234
Cholestasis	Cholestasis, Extrahepatic	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039
Hyperinsulinemic hypoglycemia	Congenital Hyperinsulinism, Hyperinsulinemic hypoglycemia	rs137853103, rs2126234459, rs104894237, rs267607196, rs387906407, rs151344623, rs28936370, rs28938469, rs28936371, rs137852671, rs137852672, rs72559723, rs193922400, rs137852676, rs193922402, rs980458021, rs375717077, rs786200932, rs587783169, rs72559713, rs72559716, rs786204542, rs541269678, rs570388861, rs72559722, rs786204676, rs151344624, rs797045637, rs797045212, rs797045211, rs797045207, rs797045213, rs761749884, rs863225280, rs139964066, rs886039877, rs886041392, rs886041391, rs746480424, rs1057516281, rs1057516317, rs576684889, rs764613146, rs773306994, rs1057516946, rs1057517139, rs1057516591, rs201682634, rs766891274, rs193922405, rs72559715, rs769518471, rs757171524, rs139328569, rs768951263, rs72559718, rs1260178539, rs200670692, rs72559734, rs1554910610, rs1554924035, rs372307320, rs1446306735, rs925231098, rs1554913069, rs1554923999, rs765090096, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1554949176, rs1411638309, rs1008906426, rs758844607, rs1554924540, rs755259997, rs769569410, rs72559730, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1398546361, rs781617345
Coronary artery disease	CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1, Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	23202125, 24262325, 29212778, 23104008
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	30054458
Glaucoma	Glaucoma, Glaucoma, Open-Angle	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644	21532571, 22792221, 22570617, 22419738
Glioma	Glioma, mixed gliomas, Malignant Glioma	rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701	19578367, 19578366, 21531791, 19578366, 19578367
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354
Hyperparathyroidism	Hyperparathyroidism	rs28942098, rs121434262, rs80356649, rs121434264, rs587776558, rs587776559, rs121909259, rs104893689, rs28936684, rs104893690, rs869320729, rs104893700, rs104893705, rs104893707, rs104893709, rs863223311, rs80356650, rs193922432, rs886041637, rs201633414, rs1057519419, rs766719790, rs1281361203, rs759393722, rs1342435095, rs1200458339, rs755916513, rs1586190048, rs1558280170
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044	9488045
Lymphoblastic leukemia	Precursor Cell Lymphoblastic Leukemia Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591	29348612
Melanoma	melanoma, Familial 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
Multiple endocrine neoplasia	Multiple Endocrine Neoplasia Type 1	rs121917832, rs76262710, rs75076352, rs75996173, rs80069458, rs79781594, rs77316810, rs77503355, rs77709286, rs74799832, rs76764689, rs76449634, rs78014899, rs77939446, rs79890926, rs75030001, rs77558292, rs79658334, rs75873440, rs75234356, rs104894256, rs397515385, rs104894258, rs1555164986, rs869025185, rs104894259, rs104894260, rs104894261, rs28931612, rs104894266, rs104894267, rs587776841, rs104894262, rs104894263, rs1941851693, rs104894264, rs104894265, rs863223311, rs760199250, rs1060499976, rs377767396, rs377767391, rs377767397, rs377767404, rs377767405, rs377767406, rs377767412, rs143795581, rs146646971, rs377767440, rs386134245, rs386134246, rs386134247, rs386134249, rs386134250, rs386134251, rs386134253, rs386134254, rs386134255, rs386134256, rs386134258, rs386134259, rs386134260, rs386134261, rs377767442, rs377767398, rs377767429, rs794728622, rs398124435, rs398124437, rs730882136, rs786201007, rs786201010, rs786201011, rs786204242, rs794728631, rs794728630, rs761695866, rs767319284, rs794728659, rs794728629, rs764570645, rs794728654, rs794728625, rs794728624, rs794728621, rs794728640, rs104894257, rs794728650, rs376872829, rs794728657, rs794728647, rs794728639, rs794728616, rs794728615, rs794728614, rs863224527, rs863224526, rs864622617, rs864622615, rs878855198, rs878855196, rs878855192, rs878855191, rs886039421, rs886039419, rs886039418, rs886039416, rs886039415, rs886039414, rs886039553, rs886039413, rs886041213, rs886041214, rs886042035, rs1057517902, rs1057518572, rs1057521110, rs1057521111, rs794728648, rs1057520733, rs1060500759, rs1060499974, rs750904332, rs1060499973, rs778670301, rs1060499991, rs1060499986, rs1060499992, rs1555166494, rs1555163780, rs1060499981, rs2071312, rs1555166609, rs772588551, rs1060500186, rs1060499987, rs1060499990, rs1555163591, rs1060503789, rs1064793167, rs1064793672, rs1064793613, rs1555166711, rs1085307471, rs1114167510, rs1114167514, rs1114167536, rs1114167531, rs1114167528, rs1114167542, rs1114167524, rs1114167513, rs1060499984, rs767078097, rs1114167489, rs1114167482, rs1114167483, rs1114167508, rs1114167469, rs1114167498, rs794728652, rs1114167499, rs1114167519, rs1114167538, rs1114167515, rs1114167486, rs1114167491, rs1555166695, rs1114167523, rs1555165128, rs1555166387, rs1555165488, rs972128957, rs1555165377, rs1555164270, rs1555165503, rs778921501, rs1555165756, rs141679530, rs1555163883, rs1555164115, rs1555165809, rs1555166466, rs532903617, rs1555085549, rs1555166368, rs1555164430, rs1555165485, rs1555166567, rs1555163646, rs776561706, rs1555166681, rs1555085575, rs1555165360, rs1555166365, rs1555164707, rs1555164946, rs1555164184, rs1565634591, rs1565640081, rs1565635941, rs1565642765, rs1565647767, rs1565648547, rs1565648789, rs1565651223, rs1565651568, rs1565645563, rs1565647197, rs1565648656, rs794728627, rs1564500612, rs1565644366, rs1565646772, rs1349668409, rs1588862638, rs1483605155, rs1592630079, rs1592633378, rs1592633463, rs1592637081, rs1592637440, rs1592637455, rs1187634059, rs1592647398, rs1592648765, rs1592648830, rs1592649108, rs1592651767, rs1592657785, rs1592660101, rs1565652689, rs1592280948, rs1592280992, rs1592634740, rs1592649598, rs1592649615, rs1588873476, rs1592280833, rs1592658517, rs1592640181, rs1397494237, rs1592631908, rs1592636161, rs1592643178, rs1592649069, rs1592281087, rs755301027, rs1941501683, rs1941615895, rs1941625647, rs1941850919, rs1941861451, rs1941994887, rs1946487230, rs1946491613, rs1946492962, rs1941733228, rs1941598294, rs1064793168	19141585
Myelodysplastic syndrome	MYELODYSPLASTIC SYNDROME	rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587	17294728
Parathyroid adenoma	Parathyroid Adenoma	rs587776557
Pituitary adenoma	Pituitary growth hormone cell adenoma, ACTH-Secreting Pituitary Adenoma, Non-Functioning Pituitary Gland Neoplasm	rs5030861, rs104894194, rs121908356, rs121908347, rs727502931, rs121908348, rs121908349, rs111033271, rs121908351, rs121917839, rs121917840, rs587776681, rs193922688, rs121917841, rs587776682, rs587776683, rs121917842, rs121917843, rs121917844, rs121917845, rs11554273, rs121913495, rs121913494, rs137854533, rs140016178, rs397517323, rs397517327, rs397517329, rs397517341, rs397517342, rs183431253, rs397517350, rs370983472, rs397517367, rs794726693, rs727502919, rs766673446, rs786204663, rs1556379508, rs876657754, rs773464867, rs878853337, rs886037871, rs762529663, rs1057517027, rs1057517041, rs1057516832, rs1057517424, rs1057516846, rs1057524265, rs1060499789, rs750803248, rs1064797071, rs756147087, rs758382198, rs750880909, rs1554877806, rs769433759, rs1474524543, rs866435331, rs936479651, rs146918863, rs1554182514, rs1436089021, rs1554182507, rs1554182481, rs1554182645, rs1554182405, rs1554182632, rs747955135, rs745571683, rs1190307769, rs1564808024, rs1214465435, rs1589424694, rs1200012430, rs1377982927, rs1230303971, rs750027965, rs1292050472, rs1278603247, rs1862873659, rs1338446830, rs771766431, rs759981467, rs780917129, rs1221464948, rs1166948274, rs754876029, rs762805265

Unknown
Disease name	Disease term	dbSNP ID	References
Atypical mole melanoma syndrome	Familial Atypical Mole Melanoma Syndrome
Mammary neoplasms	Mammary Neoplasms
Coronary arteriosclerosis	Coronary Arteriosclerosis		23104008
Eosinophilia	Esophagitis
Glucagonoma	Glucagonoma
Insulinoma	insulinoma
Malignant neoplasm	Malignant Neoplasms
Nasopharyngeal neoplasms	Nasopharyngeal Neoplasms		26545403
Nevus	Nevus
Pancreatic neoplasm	Pancreatic Neoplasm
Parathyroid hyperplasia	Parathyroid hyperplasia
Peptic ulcer	Peptic Ulcer
Prolactinoma	Prolactinoma
Retinal diseases	Retinal Diseases
Stomach neoplasms	Stomach Neoplasms
Subcutaneous lipoma	Subcutaneous lipoma
Thymoma	Thymoma
Thyroid gland follicular adenoma	Thyroid Gland Follicular Adenoma
Zollinger-ellison syndrome	Zollinger-Ellison syndrome