HAND2 (heart and neural crest derivatives expressed 2)

Gene

• Entrez ID: 9464
• Gene name: Heart and neural crest derivatives expressed 2
• Gene symbol: HAND2
• Synonyms (NCBI Gene): DHAND2, Hed, Thing2, bHLHa26, dHand
• Chromosome: 4
• Chromosome location: 4q34.1
• Summary: The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular cha

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001843	hsa-miR-1-3p	qRT-PCR	21169019
MIRT001843	hsa-miR-1-3p	Reporter assay;Other	15951802
MIRT438482	hsa-miR-25-3p	Luciferase reporter assay	24161931
MIRT438482	hsa-miR-25-3p	Luciferase reporter assay	24161931
MIRT488649	hsa-miR-483-5p	PAR-CLIP	23592263
MIRT488648	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT488647	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT488645	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT488646	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT488644	hsa-miR-4468	PAR-CLIP	23592263
MIRT488643	hsa-miR-139-3p	PAR-CLIP	23592263
MIRT488642	hsa-miR-6081	PAR-CLIP	23592263
MIRT488641	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT488640	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT488639	hsa-miR-3175	PAR-CLIP	23592263
MIRT488638	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT488637	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT488636	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT488635	hsa-miR-5698	PAR-CLIP	23592263
MIRT488634	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT488633	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT488632	hsa-miR-4443	PAR-CLIP	23592263
MIRT488631	hsa-miR-6515-5p	PAR-CLIP	23592263
MIRT488630	hsa-miR-7850-5p	PAR-CLIP	23592263
MIRT488649	hsa-miR-483-5p	PAR-CLIP	23592263
MIRT488648	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT488647	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT488645	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT488646	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT488644	hsa-miR-4468	PAR-CLIP	23592263
MIRT488643	hsa-miR-139-3p	PAR-CLIP	23592263
MIRT488642	hsa-miR-6081	PAR-CLIP	23592263
MIRT488641	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT488640	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT488639	hsa-miR-3175	PAR-CLIP	23592263
MIRT488638	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT488637	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT488636	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT488635	hsa-miR-5698	PAR-CLIP	23592263
MIRT488634	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT488633	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT488632	hsa-miR-4443	PAR-CLIP	23592263
MIRT488631	hsa-miR-6515-5p	PAR-CLIP	23592263
MIRT488630	hsa-miR-7850-5p	PAR-CLIP	23592263
MIRT1040589	hsa-miR-1	CLIP-seq
MIRT1040590	hsa-miR-1299	CLIP-seq
MIRT1040591	hsa-miR-206	CLIP-seq
MIRT1040592	hsa-miR-3126-3p	CLIP-seq
MIRT1040593	hsa-miR-3140-3p	CLIP-seq
MIRT1040594	hsa-miR-3179	CLIP-seq
MIRT1040595	hsa-miR-3202	CLIP-seq
MIRT1040596	hsa-miR-3673	CLIP-seq
MIRT1040597	hsa-miR-3688-3p	CLIP-seq
MIRT1040598	hsa-miR-3936	CLIP-seq
MIRT1040599	hsa-miR-4533	CLIP-seq
MIRT1040600	hsa-miR-4659a-3p	CLIP-seq
MIRT1040601	hsa-miR-4659b-3p	CLIP-seq
MIRT1040602	hsa-miR-613	CLIP-seq
MIRT1040603	hsa-miR-875-3p	CLIP-seq
MIRT2008501	hsa-miR-138	CLIP-seq
MIRT1040592	hsa-miR-3126-3p	CLIP-seq
MIRT2008502	hsa-miR-3618	CLIP-seq
MIRT2008503	hsa-miR-4672	CLIP-seq
MIRT2008504	hsa-miR-566	CLIP-seq
MIRT2008505	hsa-miR-934	CLIP-seq
MIRT2544464	hsa-miR-1291	CLIP-seq
MIRT2544465	hsa-miR-146b-3p	CLIP-seq
MIRT2544466	hsa-miR-191	CLIP-seq
MIRT2544467	hsa-miR-203	CLIP-seq
MIRT2544468	hsa-miR-369-3p	CLIP-seq
MIRT2544469	hsa-miR-374a	CLIP-seq
MIRT2544470	hsa-miR-374b	CLIP-seq
MIRT2544471	hsa-miR-4321	CLIP-seq
MIRT2544472	hsa-miR-544	CLIP-seq
MIRT2544473	hsa-miR-548a-3p	CLIP-seq
MIRT2544474	hsa-miR-548e	CLIP-seq
MIRT2544475	hsa-miR-548f	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	16280598, 24161931
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	ISS
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	16280598
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	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	15486975
GO:0001525	Process	Angiogenesis	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001947	Process	Heart looping	IEA
GO:0001967	Process	Suckling behavior	IEA
GO:0003219	Process	Cardiac right ventricle formation	IEA
GO:0003253	Process	Cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA
GO:0003266	Process	Regulation of secondary heart field cardioblast proliferation	ISS
GO:0003278	Process	Apoptotic process involved in heart morphogenesis	IEA
GO:0003357	Process	Noradrenergic neuron differentiation	NAS	16280598
GO:0003680	Function	Minor groove of adenine-thymine-rich DNA binding	IDA	15486975
GO:0005515	Function	Protein binding	IPI	15486975, 25416956
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007507	Process	Heart development	IBA	21873635
GO:0007507	Process	Heart development	NAS	15486975
GO:0007512	Process	Adult heart development	IEP	9878849
GO:0008134	Function	Transcription factor binding	ISS
GO:0010463	Process	Mesenchymal cell proliferation	IEA
GO:0010613	Process	Positive regulation of cardiac muscle hypertrophy	IDA	24161931
GO:0010613	Process	Positive regulation of cardiac muscle hypertrophy	IGI	24161931
GO:0010628	Process	Positive regulation of gene expression	IMP	24161931
GO:0010629	Process	Negative regulation of gene expression	IMP	24161931
GO:0010667	Process	Negative regulation of cardiac muscle cell apoptotic process	ISS
GO:0032502	Process	Developmental process	IBA	21873635
GO:0032991	Component	Protein-containing complex	IDA	15486975
GO:0033613	Function	Activating transcription factor binding	ISS
GO:0034103	Process	Regulation of tissue remodeling	IDA	24161931
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043392	Process	Negative regulation of DNA binding	IEA
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	IEA
GO:0043586	Process	Tongue development	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IEA
GO:0045893	Process	Positive regulation of transcription, DNA-templated	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15486975, 16280598, 24161931
GO:0048485	Process	Sympathetic nervous system development	IEA
GO:0048538	Process	Thymus development	ISS
GO:0048935	Process	Peripheral nervous system neuron development	IEA
GO:0060536	Process	Cartilage morphogenesis	IEA
GO:0060982	Process	Coronary artery morphogenesis	IEA
GO:0061032	Process	Visceral serous pericardium development	IEA
GO:0061309	Process	Cardiac neural crest cell development involved in outflow tract morphogenesis	ISS
GO:0061325	Process	Cell proliferation involved in outflow tract morphogenesis	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	24161931
GO:0070888	Function	E-box binding	IDA	15486975
GO:0070888	Function	E-box binding	ISS
GO:1900745	Process	Positive regulation of p38MAPK cascade	IMP	24161931
GO:1903929	Process	Primary palate development	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000679	Process	Positive regulation of transcription regulatory region DNA binding	IDA	16280598
GO:2000763	Process	Positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process	ISS
GO:2000764	Process	Positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis	ISS

Other IDs

• MIM: 602407
• HGNC: 4808
• e!Ensembl: ENSG00000164107

Protein

• UniProt ID: P61296
• Protein name: Heart- and neural crest derivatives-expressed protein 2 (Class A basic helix-loop-helix protein 26) (bHLHa26) (Deciduum, heart, autonomic nervous system and neural crest derivatives-expressed protein 2) (dHAND)
• Protein function: Essential for cardiac morphogenesis, particularly for the formation of the right ventricle and of the aortic arch arteries. Required for vascular development and regulation of angiogenesis, possibly through a VEGF signaling pathway. Also plays a
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00010	HLH	100 → 152	Helix-loop-helix DNA-binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Heart.
• Sequence:

  MSLVGGFPHHPVVHHEGYPFAAAAAAAAAAAASRCSHEENPYFHGWLIGHPEMSPPDYSM
  ALSYSPEYASGAAGLDHSHYGGVPPGAGPPGLGGPRPVKRRGTANRKERRRTQSINSAFA
  ELRECIPNVPADTKLSKIKTLRLATSYIAYLMDLLAKDDQNGEAEAFKAEIKKTDVKEEK
  RKKELNEILKSTVSSNDKKTKGRTGWPQHVWALELKQ

• Sequence length: 217

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	30061737, 29892015, 28416822
Cardiomyopathy	Cardiomyopathy, Dilated, Cardiomyopathy, Familial Idiopathic	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178
Congenital heart defects	Congenital Heart Defects	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049	9671575
Dilated cardiomyopathy	Familial isolated dilated cardiomyopathy	rs267607003, rs267607001, rs267607002, rs267607004, rs119463990, rs587777748, rs119463991, rs119463993, rs119464997, rs267606814, rs121908334, rs121909304, rs1369919728, rs121909295, rs121909297, rs9809219, rs137852767, rs137852768, rs137854618, rs137854607, rs128627255, rs104894797, rs121964855, rs121964858, rs74315379, rs74315380, rs121964860, rs267607130, rs267607129, rs104893823, rs267607125, rs104894503, rs2147483647, rs267607155, rs267607158, rs111033559, rs111033560, rs121913627, rs121913637, rs121913642, rs121913643, rs36211715, rs730880850, rs267606906, rs58932704, rs28928900, rs28933091, rs28933092, rs56771886, rs61672878, rs28933093, rs56699480, rs56984562, rs398122853, rs387906780, rs387906875, rs1589630173, rs387907188, rs199476316, rs199476321, rs199476311, rs387907208, rs387907209, rs387907227, rs387907228, rs193922683, rs267607578, rs45546039, rs397514507, rs730881003, rs397516089, rs397516153, rs397516155, rs397516160, rs397516165, rs145213771, rs397516254, rs397516258, rs397516260, rs397516266, rs397516355, rs397516373, rs397516455, rs397516457, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs397516784, rs397517626, rs72646846, rs397517689, rs397517735, rs397517776, rs397517889, rs57508089, rs61726475, rs61195471, rs60682848, rs56816490, rs202115331, rs61295588, rs267607486, rs267607617, rs267607592, rs267607581, rs61444459, rs57077886, rs61661343, rs267607570, rs267607589, rs59026483, rs267607571, rs57045855, rs80356807, rs58327533, rs59332535, rs267607591, rs59684335, rs199473161, rs398123557, rs398123828, rs398123839, rs398123923, rs398123981, rs397516828, rs869320740, rs869320741, rs606231334, rs606231324, rs587782077, rs587777586, rs373286166, rs727504255, rs727504246, rs727503546, rs727503559, rs727502886, rs727504531, rs371678190, rs727503261, rs397516171, rs727503253, rs2754158, rs574660186, rs730881116, rs730880759, rs786205144, rs794726993, rs794728593, rs794728594, rs794728613, rs397514450, rs770873593, rs794728072, rs794729305, rs794729367, rs794729365, rs769488730, rs794729300, rs794729356, rs794729384, rs794729343, rs794729382, rs794729286, rs794729285, rs794729284, rs794729339, rs781540455, rs794729281, rs794729332, rs794729331, rs794729280, rs794729278, rs768431507, rs794729324, rs794729323, rs754866489, rs374140736, rs794729319, rs794729311, rs771511344, rs797045088, rs781764920, rs863224999, rs1057515421, rs869025545, rs869025549, rs869312028, rs869312047, rs869312055, rs770038577, rs869312065, rs764243269, rs768345594, rs869312081, rs72648250, rs869312085, rs756367933, rs869312104, rs770767998, rs775186117, rs869312112, rs774604740, rs779996703, rs869312121, rs727503512, rs876657666, rs869248137, rs876658637, rs774395395, rs878854281, rs878854433, rs878854432, rs767450912, rs878854335, rs878854332, rs878854322, rs878854315, rs878854632, rs878854627, rs752360961, rs878854782, rs730882262, rs886037909, rs886037905, rs886038916, rs886038831, rs886039027, rs754664923, rs869038795, rs202094100, rs1114167323, rs1114167324, rs1114167335, rs1114167333, rs1553939749, rs1114167332, rs1114167331, rs1114167341, rs886043924, rs886044536, rs1057516966, rs750176716, rs1057518195, rs1057518962, rs1057518834, rs1057519573, rs1057522256, rs780415493, rs545954490, rs1060500544, rs1060500514, rs1553614378, rs1060500593, rs1060500399, rs1060500572, rs1060500575, rs1060500405, rs1060500479, rs751319893, rs1553643260, rs1060500420, rs1060500442, rs1064792914, rs1060500489, rs1064792915, rs940845256, rs1554001843, rs771328239, rs1554877224, rs796734066, rs1064793419, rs1064796323, rs776065839, rs1064795407, rs1064793911, rs1064793845, rs1064796112, rs752948913, rs1064793567, rs1085307600, rs1135402750, rs1553265739, rs1553882262, rs1553524807, rs1553603152, rs1553636324, rs1553754743, rs1553482872, rs1553501572, rs1322596650, rs1553504889, rs752697861, rs1219954334, rs1553628052, rs1553636843, rs1553562793, rs1553692107, rs1476017129, rs1466647934, rs1553649171, rs1553661994, rs1553682760, rs1553693444, rs778207102, rs1554000360, rs1553999072, rs1553997617, rs1554399014, rs1555179320, rs398123909, rs775827529, rs1554002451, rs1213930919, rs794728598, rs1553539391, rs1419374180, rs1276849351, rs1553490574, rs1477101279, rs1554875409, rs1250461669, rs1553265180, rs58362413, rs1553565316, rs1553659902, rs1553703310, rs1554898987, rs971618751, rs747286444, rs886042604, rs1554275988, rs1553524697, rs1553692435, rs775143272, rs1553974835, rs1555337916, rs1554761402, rs1554761462, rs1553265736, rs747236787, rs1559598775, rs1343120755, rs553526525, rs1483931960, rs2092847994, rs1554094927, rs1560994766, rs1562498114, rs865921466, rs958678700, rs771262904, rs760915007, rs1595084583, rs1559321340, rs1559449398, rs1564301594, rs1203741361, rs766265889, rs1165819867, rs1575283255, rs570046043, rs1218695159, rs1589632876, rs1553261891, rs72648224, rs747469275, rs1588222602, rs1589608098, rs1591950473, rs1575540533, rs1396851699, rs1592166720, rs769912484, rs1576251664, rs1588112379, rs1603222556, rs2044646731, rs267607622, rs1566533919, rs1572370360, rs769097909, rs1578126437, rs1574982376, rs1574066113, rs1566531303, rs1200988060, rs1579410180, rs1572112489, rs772061676, rs769664554, rs1703664543, rs1559301344, rs886055237, rs1708864326, rs1330960948, rs2051361827, rs376799532, rs2060187635, rs1396898734, rs767865405, rs377417974, rs1847236575, rs1415997308, rs1735710012, rs1941815245, rs2052563186
Neuroblastoma	Neuroblastoma	rs113994087, rs113994089, rs281864719, rs863225285, rs863225284, rs863225283, rs281864720, rs863225282, rs863225281, rs1057519698, rs915983602, rs1469271544	30127528
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288	25093829

Unknown
Disease term	Disease name	Evidence	References	Source
Congestive heart failure	Congestive heart failure		29394407	ClinVar
Heart failure	Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided		29394407	ClinVar
Myocardial infarction	Myocardial Failure		29394407	ClinVar
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation		28416822, 30061737, 29892015	ClinVar
Dilated Cardiomyopathy	familial isolated dilated cardiomyopathy			GenCC
Atrial Fibrillation	Atrial Fibrillation			GWAS
Ischemic Stroke	Ischemic Stroke			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	28350845
Adenocarcinoma of Lung	Associate	24369052
Arthritis Rheumatoid	Associate	33549125
Autistic Disorder	Associate	29423132
Carcinogenesis	Associate	28350845
Carcinogenesis	Inhibit	32239802
Carcinoma Hepatocellular	Associate	28194035, 32311840, 33566427
Carcinoma Non Small Cell Lung	Associate	30509963, 32473628
Carcinoma Non Small Cell Lung	Inhibit	32975291
Carcinoma Ovarian Epithelial	Associate	39519394
Carcinoma Pancreatic Ductal	Associate	32239802
Cardiomyopathies	Associate	36882677
Chromosome 15q trisomy	Associate	29423132
Chromosome 4q Syndrome	Associate	22302627
Colorectal Neoplasms	Associate	29381923, 33858496, 35870943, 36443682
Coronary Artery Disease	Associate	28469241
Developmental Disabilities	Associate	28469241
Ectrodactyly	Associate	19223930
Endometrial Hyperplasia	Associate	29241443
Endometrial Neoplasms	Associate	31779688, 31902687, 32555395
Focal Epithelial Hyperplasia	Associate	29241443
Heart Defects Congenital	Associate	22302627, 25093829, 26865696
Heart Diseases	Associate	23342164
Heart Septal Defects Ventricular	Associate	26865696, 38030295
Hypoxia	Associate	36882677
Inflammation	Inhibit	33549125
Keloid	Associate	35047146
Kidney Failure Chronic	Associate	31248315
Leukemia Lymphocytic Chronic B Cell	Associate	20484983
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	30915755
Neoplasm Metastasis	Associate	28194035
Neoplasms	Associate	29241443, 30318850, 32473628, 32975291
Neoplasms	Inhibit	30509963, 30915755, 32517089, 33566427, 35870943
Neuroblastoma	Associate	36130928, 36243768, 36416237, 36598365
Osteoarthritis	Associate	33468183
Osteosarcoma	Associate	32975291
Ovarian Neoplasms	Inhibit	32517089, 34476500
Pancreatic Intraductal Neoplasms	Associate	32239802
Plaque Atherosclerotic	Associate	35463977
Pulmonary Valve Stenosis	Associate	26865696
Rectal Neoplasms	Associate	34613665
Stomach Neoplasms	Associate	35392086
Syndrome	Associate	12509719
Tetralogy of Fallot	Associate	25093829
Thyroid Cancer Papillary	Associate	30318850
Uterine Cervical Neoplasms	Associate	28351298