HEY2 (hes related family bHLH transcription factor with YRPW motif 2)

Gene

• Entrez ID: 23493
• Gene name: Hes related family bHLH transcription factor with YRPW motif 2
• Gene symbol: HEY2
• Synonyms (NCBI Gene): CHF1, GRIDLOCK, GRL, HERP1, HESR2, HRT2, bHLHb32
• Chromosome: 6
• Chromosome location: 6q22.31
• Summary: This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deac

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019456	hsa-miR-148b-3p	Microarray	17612493
MIRT022041	hsa-miR-128-3p	Microarray	17612493
MIRT025160	hsa-miR-181a-5p	Microarray	17612493
MIRT710110	hsa-miR-208a-5p	HITS-CLIP	19536157
MIRT710109	hsa-miR-208b-5p	HITS-CLIP	19536157
MIRT710108	hsa-miR-3121-5p	HITS-CLIP	19536157
MIRT710107	hsa-miR-376b-5p	HITS-CLIP	19536157
MIRT710106	hsa-miR-376c-5p	HITS-CLIP	19536157
MIRT710105	hsa-miR-3691-5p	HITS-CLIP	19536157
MIRT710104	hsa-miR-8056	HITS-CLIP	19536157
MIRT710103	hsa-miR-4326	HITS-CLIP	19536157
MIRT710102	hsa-miR-5701	HITS-CLIP	19536157
MIRT710101	hsa-miR-6833-5p	HITS-CLIP	19536157
MIRT710100	hsa-miR-4752	HITS-CLIP	19536157
MIRT710110	hsa-miR-208a-5p	HITS-CLIP	19536157
MIRT710109	hsa-miR-208b-5p	HITS-CLIP	19536157
MIRT710108	hsa-miR-3121-5p	HITS-CLIP	19536157
MIRT710107	hsa-miR-376b-5p	HITS-CLIP	19536157
MIRT710106	hsa-miR-376c-5p	HITS-CLIP	19536157
MIRT710105	hsa-miR-3691-5p	HITS-CLIP	19536157
MIRT710104	hsa-miR-8056	HITS-CLIP	19536157
MIRT710103	hsa-miR-4326	HITS-CLIP	19536157
MIRT710102	hsa-miR-5701	HITS-CLIP	19536157
MIRT710101	hsa-miR-6833-5p	HITS-CLIP	19536157
MIRT710100	hsa-miR-4752	HITS-CLIP	19536157
MIRT710110	hsa-miR-208a-5p	HITS-CLIP	19536157
MIRT710109	hsa-miR-208b-5p	HITS-CLIP	19536157
MIRT710108	hsa-miR-3121-5p	HITS-CLIP	19536157
MIRT710107	hsa-miR-376b-5p	HITS-CLIP	19536157
MIRT710106	hsa-miR-376c-5p	HITS-CLIP	19536157
MIRT710105	hsa-miR-3691-5p	HITS-CLIP	19536157
MIRT710104	hsa-miR-8056	HITS-CLIP	19536157
MIRT710103	hsa-miR-4326	HITS-CLIP	19536157
MIRT710102	hsa-miR-5701	HITS-CLIP	19536157
MIRT710101	hsa-miR-6833-5p	HITS-CLIP	19536157
MIRT710100	hsa-miR-4752	HITS-CLIP	19536157
MIRT445985	hsa-miR-1264	PAR-CLIP	22100165
MIRT445984	hsa-miR-6512-5p	PAR-CLIP	22100165
MIRT445983	hsa-miR-4635	PAR-CLIP	22100165
MIRT445982	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT445980	hsa-miR-4452	PAR-CLIP	22100165
MIRT445981	hsa-miR-6079	PAR-CLIP	22100165
MIRT445985	hsa-miR-1264	PAR-CLIP	22100165
MIRT445984	hsa-miR-6512-5p	PAR-CLIP	22100165
MIRT445983	hsa-miR-4635	PAR-CLIP	22100165
MIRT445982	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT445980	hsa-miR-4452	PAR-CLIP	22100165
MIRT445981	hsa-miR-6079	PAR-CLIP	22100165
MIRT736702	hsa-miR-599	Luciferase reporter assay, Western blotting, qRT-PCR	31565805
MIRT710110	hsa-miR-208a-5p	HITS-CLIP	19536157
MIRT710109	hsa-miR-208b-5p	HITS-CLIP	19536157
MIRT710108	hsa-miR-3121-5p	HITS-CLIP	19536157
MIRT710107	hsa-miR-376b-5p	HITS-CLIP	19536157
MIRT710106	hsa-miR-376c-5p	HITS-CLIP	19536157
MIRT710105	hsa-miR-3691-5p	HITS-CLIP	19536157
MIRT710104	hsa-miR-8056	HITS-CLIP	19536157
MIRT710103	hsa-miR-4326	HITS-CLIP	19536157
MIRT710102	hsa-miR-5701	HITS-CLIP	19536157
MIRT710101	hsa-miR-6833-5p	HITS-CLIP	19536157
MIRT710100	hsa-miR-4752	HITS-CLIP	19536157
MIRT710110	hsa-miR-208a-5p	HITS-CLIP	19536157
MIRT710109	hsa-miR-208b-5p	HITS-CLIP	19536157
MIRT710108	hsa-miR-3121-5p	HITS-CLIP	19536157
MIRT710107	hsa-miR-376b-5p	HITS-CLIP	19536157
MIRT710106	hsa-miR-376c-5p	HITS-CLIP	19536157
MIRT710105	hsa-miR-3691-5p	HITS-CLIP	19536157
MIRT710104	hsa-miR-8056	HITS-CLIP	19536157
MIRT710103	hsa-miR-4326	HITS-CLIP	19536157
MIRT710102	hsa-miR-5701	HITS-CLIP	19536157
MIRT710101	hsa-miR-6833-5p	HITS-CLIP	19536157
MIRT710100	hsa-miR-4752	HITS-CLIP	19536157
MIRT710110	hsa-miR-208a-5p	HITS-CLIP	19536157
MIRT710109	hsa-miR-208b-5p	HITS-CLIP	19536157
MIRT710108	hsa-miR-3121-5p	HITS-CLIP	19536157
MIRT710107	hsa-miR-376b-5p	HITS-CLIP	19536157
MIRT710106	hsa-miR-376c-5p	HITS-CLIP	19536157
MIRT710105	hsa-miR-3691-5p	HITS-CLIP	19536157
MIRT710104	hsa-miR-8056	HITS-CLIP	19536157
MIRT710103	hsa-miR-4326	HITS-CLIP	19536157
MIRT710102	hsa-miR-5701	HITS-CLIP	19536157
MIRT710101	hsa-miR-6833-5p	HITS-CLIP	19536157
MIRT710100	hsa-miR-4752	HITS-CLIP	19536157
MIRT445985	hsa-miR-1264	PAR-CLIP	22100165
MIRT445984	hsa-miR-6512-5p	PAR-CLIP	22100165
MIRT445983	hsa-miR-4635	PAR-CLIP	22100165
MIRT445982	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT445980	hsa-miR-4452	PAR-CLIP	22100165
MIRT445981	hsa-miR-6079	PAR-CLIP	22100165
MIRT445985	hsa-miR-1264	PAR-CLIP	22100165
MIRT445984	hsa-miR-6512-5p	PAR-CLIP	22100165
MIRT445983	hsa-miR-4635	PAR-CLIP	22100165
MIRT445982	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT445980	hsa-miR-4452	PAR-CLIP	22100165
MIRT445981	hsa-miR-6079	PAR-CLIP	22100165
MIRT1044805	hsa-miR-25	CLIP-seq
MIRT1044806	hsa-miR-32	CLIP-seq
MIRT1044807	hsa-miR-363	CLIP-seq
MIRT1044808	hsa-miR-367	CLIP-seq
MIRT1044809	hsa-miR-4696	CLIP-seq
MIRT1044810	hsa-miR-92a	CLIP-seq
MIRT1044811	hsa-miR-92b	CLIP-seq
MIRT2009769	hsa-miR-1294	CLIP-seq
MIRT2009770	hsa-miR-371-5p	CLIP-seq
MIRT2009771	hsa-miR-371b-5p	CLIP-seq
MIRT2009772	hsa-miR-3924	CLIP-seq
MIRT2009773	hsa-miR-3977	CLIP-seq
MIRT2009774	hsa-miR-4431	CLIP-seq
MIRT2009775	hsa-miR-4464	CLIP-seq
MIRT2009776	hsa-miR-4639-3p	CLIP-seq
MIRT2009777	hsa-miR-4711-3p	CLIP-seq
MIRT2009778	hsa-miR-4748	CLIP-seq
MIRT2009779	hsa-miR-502-5p	CLIP-seq
MIRT2009780	hsa-miR-592	CLIP-seq
MIRT2242111	hsa-miR-181a	CLIP-seq
MIRT2242112	hsa-miR-181b	CLIP-seq
MIRT2242113	hsa-miR-181c	CLIP-seq
MIRT2242114	hsa-miR-181d	CLIP-seq
MIRT2242115	hsa-miR-203	CLIP-seq
MIRT2242116	hsa-miR-3123	CLIP-seq
MIRT2242117	hsa-miR-3646	CLIP-seq
MIRT2242118	hsa-miR-376c	CLIP-seq
MIRT2009772	hsa-miR-3924	CLIP-seq
MIRT2242119	hsa-miR-3925-5p	CLIP-seq
MIRT2242120	hsa-miR-4262	CLIP-seq
MIRT2242121	hsa-miR-4522	CLIP-seq
MIRT2009776	hsa-miR-4639-3p	CLIP-seq
MIRT2242122	hsa-miR-4694-3p	CLIP-seq
MIRT2242123	hsa-miR-4714-5p	CLIP-seq
MIRT2242124	hsa-miR-4766-5p	CLIP-seq
MIRT2242125	hsa-miR-4802-5p	CLIP-seq
MIRT2242126	hsa-miR-515-5p	CLIP-seq
MIRT2242127	hsa-miR-539	CLIP-seq
MIRT2242128	hsa-miR-548aa	CLIP-seq
MIRT2242129	hsa-miR-765	CLIP-seq
MIRT2242130	hsa-miR-885-5p	CLIP-seq
MIRT2242131	hsa-miR-935	CLIP-seq
MIRT2242132	hsa-miR-936	CLIP-seq
MIRT2388944	hsa-miR-1205	CLIP-seq
MIRT2545753	hsa-miR-1276	CLIP-seq
MIRT2545754	hsa-miR-1470	CLIP-seq
MIRT2545755	hsa-miR-384	CLIP-seq
MIRT2009773	hsa-miR-3977	CLIP-seq
MIRT2545756	hsa-miR-4469	CLIP-seq
MIRT2545757	hsa-miR-4473	CLIP-seq
MIRT2545758	hsa-miR-4667-3p	CLIP-seq
MIRT2009779	hsa-miR-502-5p	CLIP-seq
MIRT2545759	hsa-miR-512-3p	CLIP-seq
MIRT2545760	hsa-miR-520f	CLIP-seq
MIRT2545761	hsa-miR-548c-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NR2F2	Unknown	23345397

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10692439, 12535671, 16043483, 16293227, 21290414
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	11486045
GO:0000785	Component	Chromatin	ISA
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:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	21290414
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001102	Function	RNA polymerase II activating transcription factor binding	IPI	16293227
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS
GO:0001570	Process	Vasculogenesis	ISS
GO:0003150	Process	Muscular septum morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003180	Process	Aortic valve morphogenesis	TAS	20951801
GO:0003184	Process	Pulmonary valve morphogenesis	ISS
GO:0003186	Process	Tricuspid valve morphogenesis	ISS
GO:0003195	Process	Tricuspid valve formation	IEA
GO:0003198	Process	Epithelial to mesenchymal transition involved in endocardial cushion formation	TAS	20951801
GO:0003199	Process	Endocardial cushion to mesenchymal transition involved in heart valve formation	IEA
GO:0003208	Process	Cardiac ventricle morphogenesis	ISS
GO:0003214	Process	Cardiac left ventricle morphogenesis	ISS
GO:0003215	Process	Cardiac right ventricle morphogenesis	ISS
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	15485867
GO:0005515	Function	Protein binding	IPI	10692439, 11486045, 12535671, 21454491, 23275563, 25416956, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007219	Process	Notch signaling pathway	IBA	21873635
GO:0007219	Process	Notch signaling pathway	ISS
GO:0008134	Function	Transcription factor binding	NAS	17611704
GO:0009948	Process	Anterior/posterior axis specification	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IBA	21873635
GO:0010460	Process	Positive regulation of heart rate	IEA
GO:0010621	Process	Negative regulation of transcription by transcription factor localization	ISS
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0010667	Process	Negative regulation of cardiac muscle cell apoptotic process	IEA
GO:0014031	Process	Mesenchymal cell development	ISS
GO:0014898	Process	Cardiac muscle hypertrophy in response to stress	IEA
GO:0016580	Component	Sin3 complex	IDA	11486045
GO:0017053	Component	Transcription repressor complex	IDA	11486045
GO:0035910	Process	Ascending aorta morphogenesis	ISS
GO:0035912	Process	Dorsal aorta morphogenesis	ISS
GO:0036304	Process	Umbilical cord morphogenesis	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0042826	Function	Histone deacetylase binding	IPI	12535671
GO:0043565	Function	Sequence-specific DNA binding	IDA	11486045
GO:0045165	Process	Cell fate commitment	IEA
GO:0045607	Process	Regulation of inner ear auditory receptor cell differentiation	IEA
GO:0045746	Process	Negative regulation of Notch signaling pathway	IEA
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	12535671, 15485867
GO:0045893	Process	Positive regulation of transcription, DNA-templated	TAS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046983	Function	Protein dimerization activity	IEA
GO:0050767	Process	Regulation of neurogenesis	IBA	21873635
GO:0051145	Process	Smooth muscle cell differentiation	NAS	10692439
GO:0055015	Process	Ventricular cardiac muscle cell development	ISS
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	IEA
GO:0060317	Process	Cardiac epithelial to mesenchymal transition	ISS
GO:0060347	Process	Heart trabecula formation	IEA
GO:0060411	Process	Cardiac septum morphogenesis	ISS
GO:0060412	Process	Ventricular septum morphogenesis	ISS
GO:0060413	Process	Atrial septum morphogenesis	ISS
GO:0060633	Process	Negative regulation of transcription initiation from RNA polymerase II promoter	IDA	10692439
GO:0060716	Process	Labyrinthine layer blood vessel development	ISS
GO:0060842	Process	Arterial endothelial cell differentiation	ISS
GO:0060948	Process	Cardiac vascular smooth muscle cell development	IEA
GO:0060977	Process	Coronary vasculature morphogenesis	IEA
GO:0061156	Process	Pulmonary artery morphogenesis	ISS
GO:0061314	Process	Notch signaling involved in heart development	IC	12372254
GO:0061314	Process	Notch signaling involved in heart development	TAS	20951801
GO:0065004	Process	Protein-DNA complex assembly	IEA
GO:0070168	Process	Negative regulation of biomineral tissue development	ISS
GO:0072359	Process	Circulatory system development	IBA	21873635
GO:0090102	Process	Cochlea development	IEA
GO:0097084	Process	Vascular associated smooth muscle cell development	IEP	15821257
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000678	Process	Negative regulation of transcription regulatory region DNA binding	IDA	10692439
GO:2000723	Process	Negative regulation of cardiac vascular smooth muscle cell differentiation	ISS
GO:2000820	Process	Negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation	ISS
GO:2001212	Process	Regulation of vasculogenesis	ISS

Other IDs

• MIM: 604674
• HGNC: 4881
• e!Ensembl: ENSG00000135547

Protein

• UniProt ID: Q9UBP5
• Protein name: Hairy/enhancer-of-split related with YRPW motif protein 2 (Cardiovascular helix-loop-helix factor 1) (hCHF1) (Class B basic helix-loop-helix protein 32) (bHLHb32) (HES-related repressor protein 2) (Hairy and enhancer of split-related protein 2) (HESR-2) (
• Protein function: Downstream effector of Notch signaling which may be required for cardiovascular development. Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Represses transcription by the cardiac transcriptiona
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00010	HLH	49 → 104	Helix-loop-helix DNA-binding domain	Domain
  PF07527	Hairy_orange	123 → 162	Hairy Orange	Domain

• Sequence:

  MKRPCEETTSESDMDETIDVGSENNYSGQSTSSVIRLNSPTTTSQIMARKKRRGIIEKRR
  RDRINNSLSELRRLVPTAFEKQGSAKLEKAEILQMTVDHLKMLQATGGKGYFDAHALAMD
  FMSIGFRECLTEVARYLSSVEGLDSSDPLRVRLVSHLSTCATQREAAAMTSSMAHHHHPL
  HPHHWAAAFHHLPAALLQPNGLHASESTPCRLSTTSEVPPAHGSALLTATFAHADSALRM
  PSTGSVAPCVPPLSTSLLSLSATVHAAAAAATAAAHSFPLSFAGAFPMLPPNAAAAVAAA
  TAISPPLSVSATSSPQQTSSGTNNKPYRPWGTEVGAF

• Sequence length: 337

Pathways

KEGG:

Notch signaling pathway
Human papillomavirus infection
Pathways in cancer
Breast cancer

Reactome:

Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
NOTCH4 Intracellular Domain Regulates Transcription

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Astrocytoma	Astrocytoma, Subependymal Giant Cell Astrocytoma, Juvenile Pilocytic Astrocytoma, Diffuse Astrocytoma, Pilocytic Astrocytoma, Childhood Cerebral Astrocytoma, Cerebral Astrocytoma	rs555607708	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	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, 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
Brugada syndrome	Brugada Syndrome (disorder), Brugada Syndrome 1	rs104894718, rs397514252, rs397514446, rs137854613, rs137854601, rs397514449, rs137854604, rs28937318, rs137854611, rs137854612, rs137854615, rs137854618, rs137854620, rs72554632, rs121912776, rs199473282, rs16969925, rs199473096, rs199473565, rs199473097, rs199473566, rs199473101, rs199473153, rs199473584, rs199473168, rs199473587, rs199473170, rs199473172, rs199473175, rs199473055, rs199473556, rs199473058, rs199473225, rs199473613, rs199473271, rs199473062, rs199473623, rs199473304, rs199473305, rs199473629, rs199473072, rs199473083, rs483353016, rs587777457, rs587777742, rs727505158, rs727503411, rs730880210, rs786204839, rs786205830, rs138450474, rs794727487, rs794727637, rs794728924, rs749697698, rs794728918, rs794728917, rs794728914, rs397514450, rs794728912, rs794728906, rs794728849, rs794728843, rs794728846, rs796065312, rs796065311, rs863225273, rs869025522, rs869025520, rs777689378, rs886037903, rs754221948, rs199473284, rs886039072, rs1057519275, rs1060501130, rs759924541, rs1060501136, rs1060500103, rs1064794424, rs756159737, rs1135401773, rs1553695282, rs1553605932, rs1555475434, rs1553695764, rs1553700699, rs1553705586, rs1417036453, rs1204915217, rs761505217, rs1559727990, rs1559414131, rs755356387, rs1559729142, rs587781159, rs1559738598, rs1553699766, rs1237724419, rs1060500107, rs1575719863, rs1480085793, rs1575706847, rs199473620, rs1575751854, rs1207394743, rs1369632373, rs2061229370, rs2061654524, rs1274495820, rs2064222084, rs2064208734	23872634
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy, Hypertrophic obstructive cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157	20001863
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

Unknown
Disease term	Disease name	Evidence	References	Source
Thoracic Aortic Aneurysm And Aortic Dissection	familial thoracic aortic aneurysm and aortic dissection			GenCC
Metabolic Syndrome	Metabolic Syndrome			GWAS
Diabetes	Diabetes			GWAS
Brugada Syndrome	Brugada Syndrome			GWAS
Endometriosis	Endometriosis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Aneurysm	Inhibit	24768363
Breast Neoplasms	Associate	38066300
Brugada Syndrome	Associate	24667784, 30193957
Carcinoma Hepatocellular	Associate	27191260
Endometrial Neoplasms	Associate	34675350
Epidermolysis bullosa with pyloric atresia	Associate	25575134
Esophageal Squamous Cell Carcinoma	Associate	25361534
Fetal Growth Retardation	Associate	29983832
Glioblastoma	Associate	23787764
Glioma	Inhibit	20838435
Glioma	Associate	25192910
Heart Diseases	Associate	30816197
Heart Septal Defects Ventricular	Associate	30897084, 35870951
Hyperplasia	Associate	26808710
Hypertrophy	Associate	26808710
Hypoxia	Stimulate	22275240
Hypoxia	Associate	25734817
Lymphatic Metastasis	Stimulate	25361534
Neoplasms	Associate	24045656, 27191260, 28472177
Ovarian Neoplasms	Associate	37512088
Rupture	Associate	36303246
Smoke Inhalation Injury	Associate	32564237
Uterine Cervical Neoplasms	Associate	28351298
Varicose Veins	Associate	26808710
Venous Thrombosis	Associate	39495146