ASCL1 (achaete-scute family bHLH transcription factor 1)

Gene

• Entrez ID: 429
• Gene name: Achaete-scute family bHLH transcription factor 1
• Gene symbol: ASCL1
• Synonyms (NCBI Gene): ASH1, HASH1, MASH1, bHLHa46
• Chromosome: 12
• Chromosome location: 12q23.2
• Summary: This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5`-CANNTG-3`). Dimerization with other BHLH proteins is required for efficient DNA binding. This

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT438551	hsa-let-7i-5p	ChIP-seq, GFP reporter assay, Immunocytochemistry, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23884650
MIRT438551	hsa-let-7i-5p	ChIP-seq, GFP reporter assay, Immunocytochemistry, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23884650
MIRT438551	hsa-let-7i-5p	ChIP-seq, GFP reporter assay, Immunocytochemistry, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23884650
MIRT438551	hsa-let-7i-5p	ChIP-seq, GFP reporter assay, Immunocytochemistry, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23884650
MIRT438551	hsa-let-7i-5p	ChIP-seq, GFP reporter assay, Immunocytochemistry, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23884650
MIRT438551	hsa-let-7i-5p	ChIP-seq, GFP reporter assay, Immunocytochemistry, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23884650
MIRT438551	hsa-let-7i-5p	ChIP-seq, GFP reporter assay, Immunocytochemistry, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23884650
MIRT438551	hsa-let-7i-5p	ChIP-seq, GFP reporter assay, Immunocytochemistry, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23884650
MIRT615972	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT615971	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT615970	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT615969	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615968	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT615967	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT615966	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT615965	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT615964	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT649375	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT649374	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT649373	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT649372	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT649371	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT649370	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT649369	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT649368	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT615972	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT615971	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT615970	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT615969	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615968	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT615967	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT615966	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT615965	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT615964	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT615972	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT615971	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT615970	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT615969	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615968	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT615967	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT615966	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT615965	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT615964	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT615972	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT615971	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT615970	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT615969	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615968	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT615967	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT615966	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT615965	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT615964	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT649375	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT649374	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT649373	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT649372	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT649371	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT649370	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT649369	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT649368	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT615972	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT615971	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT615970	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT615969	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615968	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT615967	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT615966	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT615965	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT615964	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT615972	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT615971	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT615970	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT615969	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615968	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT615967	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT615966	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT615965	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT615964	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT802678	hsa-miR-150	CLIP-seq
MIRT802679	hsa-miR-210	CLIP-seq
MIRT802680	hsa-miR-3152-3p	CLIP-seq
MIRT802681	hsa-miR-4252	CLIP-seq
MIRT802682	hsa-miR-877	CLIP-seq
MIRT802678	hsa-miR-150	CLIP-seq
MIRT1937020	hsa-miR-3136-5p	CLIP-seq
MIRT1937021	hsa-miR-3170	CLIP-seq
MIRT1937022	hsa-miR-4439	CLIP-seq
MIRT1937023	hsa-miR-452	CLIP-seq
MIRT1937024	hsa-miR-4676-3p	CLIP-seq
MIRT1937025	hsa-miR-563	CLIP-seq
MIRT1937026	hsa-miR-942	CLIP-seq
MIRT1937027	hsa-miR-943	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HES1	Repression	11054669;21573214;9144241
HES6	Repression	16103883
HNRNPR	Unknown	25124043
LMO3	Activation	21573214
LMO3	Repression	21573214
NHLH2	Activation	21573214
NHLH2	Repression	21573214

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	11736660
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	11736660
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	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	11736660
GO:0001764	Process	Neuron migration	IEA
GO:0003358	Process	Noradrenergic neuron development	ISS
GO:0003359	Process	Noradrenergic neuron fate commitment	IMP	14532329
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	10903890
GO:0005515	Function	Protein binding	IPI	10903890, 32296183
GO:0005634	Component	Nucleus	IDA	12858003, 17507989, 18311112
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007219	Process	Notch signaling pathway	IDA	16160079
GO:0007346	Process	Regulation of mitotic cell cycle	IEA
GO:0007400	Process	Neuroblast fate determination	IEA
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007423	Process	Sensory organ development	IBA	21873635
GO:0007507	Process	Heart development	IEA
GO:0010226	Process	Response to lithium ion	IEA
GO:0010468	Process	Regulation of gene expression	ISS
GO:0014003	Process	Oligodendrocyte development	IEA
GO:0021527	Process	Spinal cord association neuron differentiation	IEA
GO:0021530	Process	Spinal cord oligodendrocyte cell fate specification	IEA
GO:0021750	Process	Vestibular nucleus development	IEA
GO:0021892	Process	Cerebral cortex GABAergic interneuron differentiation	IEP	12050665
GO:0021902	Process	Commitment of neuronal cell to specific neuron type in forebrain	IEA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022008	Process	Neurogenesis	IDA	19008346
GO:0030182	Process	Neuron differentiation	IBA	21873635
GO:0030182	Process	Neuron differentiation	ISS
GO:0030856	Process	Regulation of epithelial cell differentiation	IEA
GO:0032526	Process	Response to retinoic acid	IEP	12000752
GO:0042802	Function	Identical protein binding	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	17507989
GO:0043425	Function	BHLH transcription factor binding	IPI	10903890, 11940670
GO:0043525	Process	Positive regulation of neuron apoptotic process	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IDA	12000752
GO:0045666	Process	Positive regulation of neuron differentiation	ISS
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0045787	Process	Positive regulation of cell cycle	IEA
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	11736660
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	10903890
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048469	Process	Cell maturation	IEA
GO:0048485	Process	Sympathetic nervous system development	NAS	10903890
GO:0048663	Process	Neuron fate commitment	ISS
GO:0048665	Process	Neuron fate specification	ISS
GO:0048666	Process	Neuron development	ISS
GO:0050767	Process	Regulation of neurogenesis	IBA	21873635
GO:0050769	Process	Positive regulation of neurogenesis	IEA
GO:0050883	Process	Musculoskeletal movement, spinal reflex action	IEA
GO:0051593	Process	Response to folic acid	IEA
GO:0060163	Process	Subpallium neuron fate commitment	IEA
GO:0060165	Process	Regulation of timing of subpallium neuron differentiation	IEA
GO:0060166	Process	Olfactory pit development	IEA
GO:0060487	Process	Lung epithelial cell differentiation	NAS	12858003
GO:0060579	Process	Ventral spinal cord interneuron fate commitment	ISS
GO:0061100	Process	Lung neuroendocrine cell differentiation	IEA
GO:0061102	Process	Stomach neuroendocrine cell differentiation	IEA
GO:0061103	Process	Carotid body glomus cell differentiation	IEA
GO:0061104	Process	Adrenal chromaffin cell differentiation	IEA
GO:0061549	Process	Sympathetic ganglion development	ISS
GO:0070849	Process	Response to epidermal growth factor	IEA
GO:0070888	Function	E-box binding	IDA	10903890, 11736660
GO:0071259	Process	Cellular response to magnetism	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IBA	21873635
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	IEA

Other IDs

• MIM: 100790
• HGNC: 738
• e!Ensembl: ENSG00000139352

Protein

• UniProt ID: P50553
• Protein name: Achaete-scute homolog 1 (ASH-1) (hASH1) (Class A basic helix-loop-helix protein 46) (bHLHa46)
• Protein function: Transcription factor that plays a key role in neuronal differentiation: acts as a pioneer transcription factor, accessing closed chromatin to allow other factors to bind and activate neural pathways. Directly binds the E box motif (5'-CANNTG-3')
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00010	HLH	119 → 171	Helix-loop-helix DNA-binding domain	Domain

• Sequence:

  MESSAKMESGGAGQQPQPQPQQPFLPPAACFFATAAAAAAAAAAAAAQSAQQQQQQQQQQ
  QQAPQLRPAADGQPSGGGHKSAPKQVKRQRSSSPELMRCKRRLNFSGFGYSLPQQQPAAV
  ARRNERERNRVKLVNLGFATLREHVPNGAANKKMSKVETLRSAVEYIRALQQLLDEHDAV
  SAAFQAGVLSPTISPNYSNDLNSMAGSPVSSYSSDEGSYDPLSPEEQELLDFTNWF

• Sequence length: 236

Pathways

Reactome:

NGF-stimulated transcription

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Congenital central hypoventilation	Congenital central hypoventilation	rs587776626, rs1733878065, rs761018157, rs779557320, rs772448418, rs775006915, rs1733941453, rs73810366
Dysautonomia	Dysautonomia	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995
Haddad syndrome	CCHS WITH HIRSCHSPRUNG DISEASE, Haddad syndrome	rs1297909281, rs587776626, rs1733941453, rs73810366
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869
Mental retardation	Profound Mental Retardation, Mental deficiency, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	21937992
Lung carcinoma	Small cell carcinoma of lung	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	26253517
Neuroblastoma	Neuroblastoma	rs113994087, rs113994089, rs281864719, rs863225285, rs863225284, rs863225283, rs281864720, rs863225282, rs863225281, rs1057519698, rs915983602, rs1469271544

Unknown
Disease term	Disease name	Evidence	References	Source
Haddad Syndrome	Haddad syndrome			GenCC
Neurodevelopmental Disorders	neurodevelopmental disorder			GenCC
Schizophrenia	Schizophrenia			GWAS
Neuroticism	Neuroticism			GWAS
Oligodendroglioma	Oligodendroglioma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acute cholinergic dysautonomia	Associate	29453933
Adenocarcinoma	Associate	14657947, 24037524, 24078426, 28460442
Adenocarcinoma of Lung	Associate	22696682, 24037524, 28460442, 30121393, 31292388, 35367201, 37801008
Anus Neoplasms	Associate	30060049, 38160718
Bipolar Disorder	Associate	37958729
Breast Neoplasms	Associate	35690220
Carcinogenesis	Associate	22696682, 23114535, 33191657
Carcinoid Tumor	Associate	19765735, 22696682, 26403073, 39581377
Carcinoid Tumor	Inhibit	26008974
Carcinoma Hepatocellular	Inhibit	36755802
Carcinoma Large Cell	Associate	16862075, 30121393, 35608806, 38086335, 38126617
Carcinoma Merkel Cell	Associate	18587322, 30414538
Carcinoma Neuroendocrine	Associate	17102592, 18587321, 19150107, 30946934, 35367201, 35608806, 36840413
Carcinoma Non Small Cell Lung	Associate	25267614, 34417454, 35164915, 38233864
Carcinoma Non Small Cell Lung	Inhibit	35815661
Carcinoma Small Cell	Associate	14657947, 16862075, 18587322, 26340530, 27764802, 33248321, 34145257, 34534680, 37931445
Carcinoma Squamous Cell	Associate	24078426
Cholangiocarcinoma	Associate	23423517
Diabetes Gestational	Inhibit	24262292
Diffuse Intrinsic Pontine Glioma	Associate	35590427
Enhanced S Cone Syndrome	Stimulate	18796682
Focal Cortical Dysplasia	Associate	20452788
Gastro enteropancreatic neuroendocrine tumor	Associate	18587321
Gastrointestinal Stromal Tumors	Associate	28130400
Glioblastoma	Associate	18796682, 23707066, 28712938, 30538287, 35149717
Glioblastoma	Inhibit	32182224
Inflammation	Associate	34911938
Lung Neoplasms	Associate	14657947, 17549667, 20124469, 22696682, 25267614
Lymphatic Metastasis	Associate	24078426, 33191657
Melanoma	Associate	19150107
N syndrome	Associate	34653364
Neoplasm Invasiveness	Associate	33191657, 34931456
Neoplasms	Associate	17549667, 19150107, 19588205, 19744316, 23070403, 24037524, 24078426, 24521712, 25267614, 26403073, 30948375, 31068386, 33580586, 34534680, 35164915, 35690220, 36239545, 37253435, 37801008, 8751579
Neoplasms	Inhibit	33046535
Neuroblastoma	Associate	12107114, 19150107, 21573214, 24521712, 31819055, 33046535, 36121500, 38060444, 38331110
Neuroendocrine Tumors	Associate	17549667, 18311112, 18570928, 19588205, 23147412, 24037524, 24403239, 25267614, 27994516, 28130400, 28460442, 28621224, 29866045, 31068386, 33011388, 34674268, 36044718, 36121500, 8751579
Obesity Maternal	Inhibit	24262292
Oligodendroglioma	Associate	18796682
Pancreatic Neoplasms	Associate	19744316
Pheochromocytoma	Associate	19669229
Prostatic Neoplasms	Associate	18311112, 31836808, 34599169, 35477723, 37552603, 37823778, 37995683
Rhabdomyosarcoma	Associate	19150107
Schizophrenia	Associate	34911938, 37958729
Sinonasal undifferentiated carcinoma	Associate	19150107
Small Cell Lung Carcinoma	Associate	12107114, 18587322, 20124469, 25267614, 26340530, 28212573, 30121393, 31068386, 31292388, 31782890, 32669118, 33011388, 33086069, 33191657, 33514539, 34417454, 34653364, 34931456, 35194152, 35220975, 35263037, 35440124, 35489038, 35612556, 35789143, 35815661, 36149789, 36378541, 36399951, 36517551, 37054974, 37253435, 37752152, 38126617, 38233864, 38241363, 39210380, 40649874
Small Cell Lung Carcinoma	Stimulate	29866045, 31691490
Small Cell Lung Carcinoma	Inhibit	37801008
Squamous Cell Carcinoma of Head and Neck	Associate	25612142
Squamous Intraepithelial Lesions	Associate	36366827
Thyroid cancer medullary	Associate	17090547, 8751579
Typical Teratoid Rhabdoid Tumor	Associate	30948375
upper airway cough syndrome	Associate	39176088
Uterine Cervical Dysplasia	Associate	34558659, 36366827, 38160718
Uterine Cervical Neoplasms	Associate	30101434, 36366827
Uterine Cervicitis	Associate	30101434, 30360578