HES1 (hes family bHLH transcription factor 1)

Gene

• Entrez ID: 3280
• Gene name: Hes family bHLH transcription factor 1
• Gene symbol: HES1
• Synonyms: HES-1, HHL, HRY, bHLHb39
• Chromosome: 3
• Chromosome location: 3q29
• Summary: This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of basic domain that contains a helix int

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002953	hsa-miR-23a-3p	Luciferase reporter assay	15066185
MIRT002953	hsa-miR-23a-3p	Immunofluorescence, Luciferase reporter assay, Northern blot, Western blot	12808467
MIRT000208	hsa-miR-199b-5p	Flow, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	19308264
MIRT006893	hsa-miR-524-5p	SNB19	22871495
MIRT006893	hsa-miR-524-5p	SNB19	22871495
MIRT000208	hsa-miR-199b-5p	Luciferase reporter assay	23354452
MIRT051991	hsa-let-7b-5p	CLASH	23622248
MIRT049494	hsa-miR-92a-3p	CLASH	23622248
MIRT046625	hsa-miR-222-3p	CLASH	23622248
MIRT038426	hsa-miR-296-3p	CLASH	23622248
MIRT006893	hsa-miR-524-5p	qRT-PCR	25172935
MIRT736863	hsa-miR-9-3p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	27426040
MIRT733902	hsa-miR-145-3p	Luciferase reporter assay, qRT-PCR, Western blotting	32588730
MIRT736863	hsa-miR-9-3p	Western blotting, Microarray, qRT-PCR, Flow cytometry	34055767
MIRT1044507	hsa-miR-1203	CLIP-seq
MIRT1044508	hsa-miR-1271	CLIP-seq
MIRT1044509	hsa-miR-1297	CLIP-seq
MIRT1044510	hsa-miR-1303	CLIP-seq
MIRT1044511	hsa-miR-1305	CLIP-seq
MIRT1044512	hsa-miR-150	CLIP-seq
MIRT1044513	hsa-miR-182	CLIP-seq
MIRT1044514	hsa-miR-2110	CLIP-seq
MIRT1044515	hsa-miR-26a	CLIP-seq
MIRT1044516	hsa-miR-26b	CLIP-seq
MIRT1044517	hsa-miR-3150a-3p	CLIP-seq
MIRT1044518	hsa-miR-3163	CLIP-seq
MIRT1044519	hsa-miR-3175	CLIP-seq
MIRT1044520	hsa-miR-3200-5p	CLIP-seq
MIRT1044521	hsa-miR-323b-3p	CLIP-seq
MIRT1044522	hsa-miR-3658	CLIP-seq
MIRT1044523	hsa-miR-369-3p	CLIP-seq
MIRT1044524	hsa-miR-374a	CLIP-seq
MIRT1044525	hsa-miR-374b	CLIP-seq
MIRT1044526	hsa-miR-374c	CLIP-seq
MIRT1044527	hsa-miR-3909	CLIP-seq
MIRT1044528	hsa-miR-3940-5p	CLIP-seq
MIRT1044529	hsa-miR-4266	CLIP-seq
MIRT1044530	hsa-miR-4272	CLIP-seq
MIRT1044531	hsa-miR-4303	CLIP-seq
MIRT1044532	hsa-miR-4465	CLIP-seq
MIRT1044533	hsa-miR-4484	CLIP-seq
MIRT1044534	hsa-miR-4507	CLIP-seq
MIRT1044535	hsa-miR-4517	CLIP-seq
MIRT1044536	hsa-miR-4642	CLIP-seq
MIRT1044537	hsa-miR-4695-5p	CLIP-seq
MIRT1044538	hsa-miR-4713-5p	CLIP-seq
MIRT1044539	hsa-miR-4768-5p	CLIP-seq
MIRT1044540	hsa-miR-4779	CLIP-seq
MIRT1044541	hsa-miR-520d-5p	CLIP-seq
MIRT1044542	hsa-miR-524-3p	CLIP-seq
MIRT1044543	hsa-miR-525-3p	CLIP-seq
MIRT1044544	hsa-miR-532-3p	CLIP-seq
MIRT1044545	hsa-miR-607	CLIP-seq
MIRT1044546	hsa-miR-651	CLIP-seq
MIRT1044547	hsa-miR-655	CLIP-seq
MIRT1044548	hsa-miR-9	CLIP-seq
MIRT1044549	hsa-miR-939	CLIP-seq
MIRT1044550	hsa-miR-942	CLIP-seq
MIRT1044551	hsa-miR-96	CLIP-seq
MIRT1044507	hsa-miR-1203	CLIP-seq
MIRT2009707	hsa-miR-1283	CLIP-seq
MIRT1044510	hsa-miR-1303	CLIP-seq
MIRT2009708	hsa-miR-130a	CLIP-seq
MIRT2009709	hsa-miR-130b	CLIP-seq
MIRT1044514	hsa-miR-2110	CLIP-seq
MIRT2009710	hsa-miR-301a	CLIP-seq
MIRT2009711	hsa-miR-301b	CLIP-seq
MIRT1044517	hsa-miR-3150a-3p	CLIP-seq
MIRT1044519	hsa-miR-3175	CLIP-seq
MIRT1044520	hsa-miR-3200-5p	CLIP-seq
MIRT2009712	hsa-miR-3666	CLIP-seq
MIRT1044523	hsa-miR-369-3p	CLIP-seq
MIRT1044524	hsa-miR-374a	CLIP-seq
MIRT1044525	hsa-miR-374b	CLIP-seq
MIRT1044526	hsa-miR-374c	CLIP-seq
MIRT1044528	hsa-miR-3940-5p	CLIP-seq
MIRT1044529	hsa-miR-4266	CLIP-seq
MIRT2009713	hsa-miR-4295	CLIP-seq
MIRT1044531	hsa-miR-4303	CLIP-seq
MIRT1044533	hsa-miR-4484	CLIP-seq
MIRT1044534	hsa-miR-4507	CLIP-seq
MIRT1044535	hsa-miR-4517	CLIP-seq
MIRT2009714	hsa-miR-454	CLIP-seq
MIRT2009715	hsa-miR-4671-3p	CLIP-seq
MIRT1044537	hsa-miR-4695-5p	CLIP-seq
MIRT2009716	hsa-miR-4704-3p	CLIP-seq
MIRT1044540	hsa-miR-4779	CLIP-seq
MIRT1044541	hsa-miR-520d-5p	CLIP-seq
MIRT1044542	hsa-miR-524-3p	CLIP-seq
MIRT1044543	hsa-miR-525-3p	CLIP-seq
MIRT2009717	hsa-miR-548ad	CLIP-seq
MIRT1044546	hsa-miR-651	CLIP-seq
MIRT1044547	hsa-miR-655	CLIP-seq
MIRT1044549	hsa-miR-939	CLIP-seq
MIRT1044507	hsa-miR-1203	CLIP-seq
MIRT1044509	hsa-miR-1297	CLIP-seq
MIRT1044510	hsa-miR-1303	CLIP-seq
MIRT1044511	hsa-miR-1305	CLIP-seq
MIRT1044512	hsa-miR-150	CLIP-seq
MIRT1044514	hsa-miR-2110	CLIP-seq
MIRT1044515	hsa-miR-26a	CLIP-seq
MIRT1044516	hsa-miR-26b	CLIP-seq
MIRT1044517	hsa-miR-3150a-3p	CLIP-seq
MIRT1044519	hsa-miR-3175	CLIP-seq
MIRT1044520	hsa-miR-3200-5p	CLIP-seq
MIRT1044521	hsa-miR-323b-3p	CLIP-seq
MIRT2242027	hsa-miR-3613-3p	CLIP-seq
MIRT1044523	hsa-miR-369-3p	CLIP-seq
MIRT1044524	hsa-miR-374a	CLIP-seq
MIRT1044525	hsa-miR-374b	CLIP-seq
MIRT1044526	hsa-miR-374c	CLIP-seq
MIRT1044527	hsa-miR-3909	CLIP-seq
MIRT1044528	hsa-miR-3940-5p	CLIP-seq
MIRT1044529	hsa-miR-4266	CLIP-seq
MIRT1044530	hsa-miR-4272	CLIP-seq
MIRT1044531	hsa-miR-4303	CLIP-seq
MIRT1044532	hsa-miR-4465	CLIP-seq
MIRT1044533	hsa-miR-4484	CLIP-seq
MIRT1044534	hsa-miR-4507	CLIP-seq
MIRT1044535	hsa-miR-4517	CLIP-seq
MIRT1044537	hsa-miR-4695-5p	CLIP-seq
MIRT1044538	hsa-miR-4713-5p	CLIP-seq
MIRT1044539	hsa-miR-4768-5p	CLIP-seq
MIRT1044540	hsa-miR-4779	CLIP-seq
MIRT1044541	hsa-miR-520d-5p	CLIP-seq
MIRT1044542	hsa-miR-524-3p	CLIP-seq
MIRT1044543	hsa-miR-525-3p	CLIP-seq
MIRT1044544	hsa-miR-532-3p	CLIP-seq
MIRT2009717	hsa-miR-548ad	CLIP-seq
MIRT1044545	hsa-miR-607	CLIP-seq
MIRT1044546	hsa-miR-651	CLIP-seq
MIRT1044547	hsa-miR-655	CLIP-seq
MIRT1044548	hsa-miR-9	CLIP-seq
MIRT1044549	hsa-miR-939	CLIP-seq
MIRT1044550	hsa-miR-942	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
LMO3	Repression	21573214
NFKB1	Unknown	17876798
NHLH2	Repression	21573214
NOTCH3	Repression	22117196
PITX1	Repression	21425961
RELA	Unknown	17876798
RUNX3	Repression	19800882
SNW1	Unknown	15546612
SOX9	Activation	19322650

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	12032823, 12535671
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0001085	Function	RNA polymerase II transcription factor binding	ISS
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS
GO:0001889	Process	Liver development	IEA
GO:0003143	Process	Embryonic heart tube morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003266	Process	Regulation of secondary heart field cardioblast proliferation	IEA
GO:0003281	Process	Ventricular septum development	ISS
GO:0003677	Function	DNA binding	TAS	7906273
GO:0005515	Function	Protein binding	IPI	12535671
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007155	Process	Cell adhesion	IEA
GO:0007219	Process	Notch signaling pathway	IBA	21873635
GO:0007219	Process	Notch signaling pathway	IDA	16160079
GO:0007219	Process	Notch signaling pathway	IMP	19682396
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007399	Process	Nervous system development	TAS	8020957
GO:0008134	Function	Transcription factor binding	NAS	17611704
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0009952	Process	Anterior/posterior pattern specification	IBA	21873635
GO:0016477	Process	Cell migration	IEA
GO:0021537	Process	Telencephalon development	IEA
GO:0021555	Process	Midbrain-hindbrain boundary morphogenesis	IEA
GO:0021557	Process	Oculomotor nerve development	IEA
GO:0021558	Process	Trochlear nerve development	IEA
GO:0021575	Process	Hindbrain morphogenesis	IEA
GO:0021861	Process	Forebrain radial glial cell differentiation	ISS
GO:0021984	Process	Adenohypophysis development	IEA
GO:0030324	Process	Lung development	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0030901	Process	Midbrain development	IEA
GO:0031016	Process	Pancreas development	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035910	Process	Ascending aorta morphogenesis	ISS
GO:0042102	Process	Positive regulation of T cell proliferation	IEA
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	ISS
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0042826	Function	Histone deacetylase binding	IPI	12535671
GO:0043388	Process	Positive regulation of DNA binding	ISS
GO:0043398	Function	HLH domain binding	IEA
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	ISS
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0045598	Process	Regulation of fat cell differentiation	IEA
GO:0045608	Process	Negative regulation of inner ear auditory receptor cell differentiation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IBA	21873635
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	12535671
GO:0045893	Process	Positive regulation of transcription, DNA-templated	TAS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0045977	Process	Positive regulation of mitotic cell cycle, embryonic	ISS
GO:0046331	Process	Lateral inhibition	IEA
GO:0046425	Process	Regulation of receptor signaling pathway via JAK-STAT	ISS
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	ISS
GO:0048469	Process	Cell maturation	IEA
GO:0048538	Process	Thymus development	ISS
GO:0048667	Process	Cell morphogenesis involved in neuron differentiation	IEA
GO:0048711	Process	Positive regulation of astrocyte differentiation	ISS
GO:0048715	Process	Negative regulation of oligodendrocyte differentiation	ISS
GO:0048844	Process	Artery morphogenesis	ISS
GO:0050678	Process	Regulation of epithelial cell proliferation	IEA
GO:0050767	Process	Regulation of neurogenesis	IBA	21873635
GO:0051087	Function	Chaperone binding	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0060164	Process	Regulation of timing of neuron differentiation	IEA
GO:0060253	Process	Negative regulation of glial cell proliferation	ISS
GO:0060412	Process	Ventricular septum morphogenesis	ISS
GO:0060675	Process	Ureteric bud morphogenesis	IEA
GO:0060716	Process	Labyrinthine layer blood vessel development	IEA
GO:0061009	Process	Common bile duct development	IEA
GO:0061106	Process	Negative regulation of stomach neuroendocrine cell differentiation	IEA
GO:0061309	Process	Cardiac neural crest cell development involved in outflow tract morphogenesis	IEA
GO:0061626	Process	Pharyngeal arch artery morphogenesis	ISS
GO:0065003	Process	Protein-containing complex assembly	ISS
GO:0070888	Function	E-box binding	IBA	21873635
GO:0070888	Function	E-box binding	ISS
GO:0071820	Function	N-box binding	IBA	21873635
GO:0071820	Function	N-box binding	ISS
GO:0072012	Process	Glomerulus vasculature development	IEA
GO:0072049	Process	Comma-shaped body morphogenesis	IEA
GO:0072050	Process	S-shaped body morphogenesis	IEA
GO:0072141	Process	Renal interstitial fibroblast development	IEA
GO:0072282	Process	Metanephric nephron tubule morphogenesis	IEA
GO:0090102	Process	Cochlea development	IEA
GO:0090162	Process	Establishment of epithelial cell polarity	IEA
GO:0097084	Process	Vascular associated smooth muscle cell development	ISS
GO:0097150	Process	Neuronal stem cell population maintenance	IEP	19682396
GO:1905934	Process	Negative regulation of cell fate determination	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000227	Process	Negative regulation of pancreatic A cell differentiation	IEA
GO:2000737	Process	Negative regulation of stem cell differentiation	IMP	19682396
GO:2000974	Process	Negative regulation of pro-B cell differentiation	IMP	12032823
GO:2000978	Process	Negative regulation of forebrain neuron differentiation	ISS

Other IDs

• MIM: 139605
• HGNC: 5192
• e!Ensembl: ENSG00000114315

Protein

• UniProt ID: Q14469
• Protein name: Transcription factor HES-1 (Class B basic helix-loop-helix protein 39) (bHLHb39) (Hairy and enhancer of split 1) (Hairy homolog) (Hairy-like protein) (hHL)
• Protein function: Transcriptional repressor of genes that require a bHLH protein for their transcription. May act as a negative regulator of myogenesis by inhibiting the functions of MYOD1 and ASH1. Binds DNA on N-box motifs: 5'-CACNAG-3' with high affinity and o
• PDB: 2MH3, 7C4O
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00010	HLH	35 → 92	Helix-loop-helix DNA-binding domain	Domain
  PF07527	Hairy_orange	109 → 148	Hairy Orange	Domain

• Sequence:

  MPADIMEKNSSSPVAATPASVNTTPDKPKTASEHRKSSKPIMEKRRRARINESLSQLKTL
  ILDALKKDSSRHSKLEKADILEMTVKHLRNLQRAQMTAALSTDPSVLGKYRAGFSECMNE
  VTRFLSTCEGVNTEVRTRLLGHLANCMTQINAMTYPGQPHPALQAPPPPPPGPGGPQHAP
  FAPPPPLVPIPGGAAPPPGGAPCKLGSQAGEAAKVFGGFQVVPAPDGQFAFLIPNGAFAH
  SGPVIPVYTSNSGTSVGPNAVSPSSGPSLTADSMWRPWRN

• Sequence length: 280

Pathways

KEGG:

Fanconi anemia pathway
Notch signaling pathway
Maturity onset diabetes of the young
Human papillomavirus infection
Epstein-Barr virus infection
Pathways in cancer
Breast cancer

Reactome:

Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
RUNX3 regulates NOTCH signaling
NOTCH4 Intracellular Domain Regulates Transcription

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anaplastic oligodendroglioma	Anaplastic Oligodendroglioma	rs1568504941	21127729
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	20197467, 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, 20197467
Cervical cancer	cervical cancer	rs28934571, rs121913482, rs121913483	25061499
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	19147571
Glioblastoma	Glioblastoma, Glioblastoma Multiforme	rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888	21127729
Lung carcinoma	Non-Small Cell Lung Carcinoma	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	21994468
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	17804716
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	20197467, 21036696
Meningioma	Meningioma, Meningiomas, Multiple, Clear Cell Meningioma	rs587776563, rs121434259, rs387906857, rs397509405, rs397509406, rs397509407, rs397509408, rs797045990, rs876659443, rs878854603, rs1057518166, rs1060501395, rs1554897280, rs1554898242, rs1555605347, rs587782187, rs1555605750, rs878853937, rs1589596143, rs2037146593, rs2037146907	21127729

Unknown
Disease name	Disease term	dbSNP ID	References
Angioblastic meningioma	Angioblastic Meningioma		21127729
Angiomatous meningioma	Angiomatous Meningioma		21127729
Benign meningioma	Benign Meningioma		21127729
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		20197467, 21036696
Cerebral convexity meningioma	Cerebral Convexity Meningioma		21127729
Cerebral primitive neuroectodermal tumor	Cerebral Primitive Neuroectodermal Tumor		21127729
Uterine cervix neoplasm	Uterine Cervical Neoplasm		25061499
Ependymoblastoma	Ependymoblastoma		21127729
Fibrous meningioma	Fibrous Meningioma		21127729
Fossa meningioma	Posterior Fossa Meningioma		21127729
Giant cell glioblastoma	Giant Cell Glioblastoma		21127729
Hemangioblastic meningioma	Hemangioblastic Meningioma		21127729
Hemangiopericytic meningioma	Hemangiopericytic Meningioma		21127729
Intracranial meningioma	Intracranial Meningioma		21127729
Intraorbital meningioma	Intraorbital Meningioma		21127729
Intraventricular meningioma	Intraventricular Meningioma		21127729
Lung neoplasms	Lung Neoplasms		17804716
Malignant meningioma	Malignant Meningioma		21127729
Medulloepithelioma	Medulloepithelioma		21127729
Meningothelial meningioma	Meningothelial meningioma		21127729
Microcystic meningioma	Microcystic meningioma	rs779101828	21127729
Mixed oligodendroglioma-astrocytoma	Mixed Oligodendroglioma-Astrocytoma		21127729
Mixed oligodendroglioma-ependymoma	Mixed Oligodendroglioma-Ependymoma		21127729
Neuroectodermal tumors	Neuroectodermal Tumor, Primitive		21127729
Olfactory groove meningioma	Olfactory Groove Meningioma		21127729
Oligodendroblastoma	Oligodendroblastoma		21127729
Oligodendroglioma	oligodendroglioma, Adult Oligodendroglioma, Childhood Oligodendroglioma, Well Differentiated Oligodendroglioma	rs1568503055, rs1569535987	21127729
Pancreatic ductal carcinoma	Carcinoma, Pancreatic Ductal		19208345
Papillary meningioma	Papillary Meningioma		21127729
Parasagittal meningioma	Parasagittal Meningioma		21127729
Psammomatous meningioma	Psammomatous Meningioma		21127729
Secretory meningioma	Secretory meningioma		21127729
Sphenoid wing meningioma	Sphenoid Wing Meningioma		21127729
Spinal meningioma	Spinal Meningioma		21127729
Spongioblastoma	Spongioblastoma		21127729
Transitional meningioma	Transitional Meningioma		21127729
Xanthomatous meningioma	Xanthomatous Meningioma		21127729