PHOX2B (paired like homeobox 2B)

Gene

• Entrez ID: 8929
• Gene name: Paired like homeobox 2B
• Gene symbol: PHOX2B
• Synonyms: CCHS, NBLST2, NBPhox, PMX2B
• Chromosome: 4
• Chromosome location: 4p13
• Summary: The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs17879189	TGCCGCCGCCGCCGCTGCCGC>-,TGCCGCCGCCGCCGCTGCCGCTGCCGCCGCCGCCGCTGCCGC	Pathogenic, benign, likely-benign	Inframe insertion, coding sequence variant, inframe deletion
rs104893856	C>T	Risk-factor	Missense variant, coding sequence variant
rs587776626	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs761018157	TGCCGCTGCCGCCGC>-,TGCCGCTGCCGCCGCTGCCGCTGCCGCCGC	Pathogenic, likely-benign, benign	Coding sequence variant, inframe insertion, inframe deletion
rs772448418	CGCGGCCGCCGCCGCTGCTGC>-,CGCGGCCGCCGCCGCTGCTGCCGCGGCCGCCGCCGCTGCTGC	Uncertain-significance, pathogenic	Coding sequence variant, inframe deletion, inframe insertion
rs775006915	TGCCGCGGCCGCCGC>-,TGCCGCGGCCGCCGCTGCCGCGGCCGCCGC	Pathogenic, benign, benign-likely-benign, likely-benign	Coding sequence variant, inframe deletion, inframe insertion
rs779557320	CGCCGCCGCTGCCGC>-,CGCCGCCGCTGCCGCCGCCGCCGCTGCCGC	Likely-benign, pathogenic	Coding sequence variant, inframe deletion, inframe insertion
rs1553897738	T>C	Likely-pathogenic	Stop lost, terminator codon variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT535286	hsa-miR-4262	PAR-CLIP	22012620
MIRT535285	hsa-miR-181b-5p	PAR-CLIP	22012620
MIRT535284	hsa-miR-181a-5p	PAR-CLIP	22012620
MIRT535283	hsa-miR-181c-5p	PAR-CLIP	22012620
MIRT535282	hsa-miR-181d-5p	PAR-CLIP	22012620
MIRT535281	hsa-miR-543	PAR-CLIP	22012620
MIRT535280	hsa-miR-548at-5p	PAR-CLIP	22012620
MIRT535279	hsa-miR-7109-3p	PAR-CLIP	22012620
MIRT535278	hsa-miR-4272	PAR-CLIP	22012620
MIRT535277	hsa-miR-9-3p	PAR-CLIP	22012620
MIRT535286	hsa-miR-4262	PAR-CLIP	22012620
MIRT535285	hsa-miR-181b-5p	PAR-CLIP	22012620
MIRT535284	hsa-miR-181a-5p	PAR-CLIP	22012620
MIRT535283	hsa-miR-181c-5p	PAR-CLIP	22012620
MIRT535282	hsa-miR-181d-5p	PAR-CLIP	22012620
MIRT535281	hsa-miR-543	PAR-CLIP	22012620
MIRT535280	hsa-miR-548at-5p	PAR-CLIP	22012620
MIRT535279	hsa-miR-7109-3p	PAR-CLIP	22012620
MIRT535278	hsa-miR-4272	PAR-CLIP	22012620
MIRT535277	hsa-miR-9-3p	PAR-CLIP	22012620
MIRT756035	hsa-miR-99b-5p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunohistochemistry (IHC), RNA-seq	34998954
MIRT1232401	hsa-miR-1224-5p	CLIP-seq
MIRT1232402	hsa-miR-1275	CLIP-seq
MIRT1232403	hsa-miR-1302	CLIP-seq
MIRT1232404	hsa-miR-138	CLIP-seq
MIRT1232405	hsa-miR-3165	CLIP-seq
MIRT1232406	hsa-miR-3179	CLIP-seq
MIRT1232407	hsa-miR-3185	CLIP-seq
MIRT1232408	hsa-miR-3190	CLIP-seq
MIRT1232409	hsa-miR-3202	CLIP-seq
MIRT1232410	hsa-miR-3915	CLIP-seq
MIRT1232411	hsa-miR-3928	CLIP-seq
MIRT1232412	hsa-miR-4260	CLIP-seq
MIRT1232413	hsa-miR-4298	CLIP-seq
MIRT1232414	hsa-miR-4456	CLIP-seq
MIRT1232415	hsa-miR-4476	CLIP-seq
MIRT1232416	hsa-miR-4648	CLIP-seq
MIRT1232417	hsa-miR-4665-5p	CLIP-seq
MIRT1232418	hsa-miR-4689	CLIP-seq
MIRT1232419	hsa-miR-4742-5p	CLIP-seq
MIRT1232420	hsa-miR-7	CLIP-seq
MIRT2068264	hsa-miR-1184	CLIP-seq
MIRT2068265	hsa-miR-1301	CLIP-seq
MIRT1232403	hsa-miR-1302	CLIP-seq
MIRT2068266	hsa-miR-337-5p	CLIP-seq
MIRT2068267	hsa-miR-3918	CLIP-seq
MIRT2068268	hsa-miR-4267	CLIP-seq
MIRT1232413	hsa-miR-4298	CLIP-seq
MIRT1232416	hsa-miR-4648	CLIP-seq
MIRT2068269	hsa-miR-4660	CLIP-seq
MIRT1232419	hsa-miR-4742-5p	CLIP-seq
MIRT2068270	hsa-miR-5047	CLIP-seq
MIRT2068271	hsa-miR-518a-5p	CLIP-seq
MIRT2068272	hsa-miR-527	CLIP-seq
MIRT2068273	hsa-miR-766	CLIP-seq
MIRT2456418	hsa-miR-4719	CLIP-seq
MIRT2456419	hsa-miR-513b	CLIP-seq
MIRT2456418	hsa-miR-4719	CLIP-seq
MIRT2456419	hsa-miR-513b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	16280598
GO:0000785	Component	Chromatin	ISA
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:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	16144830
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:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	16144830
GO:0001764	Process	Neuron migration	ISS
GO:0002087	Process	Regulation of respiratory gaseous exchange by nervous system process	ISS
GO:0003357	Process	Noradrenergic neuron differentiation	IC	19573018
GO:0003357	Process	Noradrenergic neuron differentiation	ISS
GO:0003358	Process	Noradrenergic neuron development	ISS
GO:0003360	Process	Brainstem development	IEP	12640453
GO:0005654	Component	Nucleoplasm	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0010001	Process	Glial cell differentiation	ISS
GO:0010468	Process	Regulation of gene expression	ISS
GO:0010971	Process	Positive regulation of G2/M transition of mitotic cell cycle	ISS
GO:0021533	Process	Cell differentiation in hindbrain	ISS
GO:0021723	Process	Medullary reticular formation development	ISS
GO:0021934	Process	Hindbrain tangential cell migration	ISS
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16144830, 16280598
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	19573018
GO:0048483	Process	Autonomic nervous system development	IMP	12640453
GO:0048484	Process	Enteric nervous system development	IBA	21873635
GO:0048484	Process	Enteric nervous system development	IEP	12640453
GO:0048485	Process	Sympathetic nervous system development	ISS
GO:0048486	Process	Parasympathetic nervous system development	ISS
GO:0048839	Process	Inner ear development	ISS
GO:0048894	Process	Efferent axon development in a lateral line nerve	ISS
GO:0060541	Process	Respiratory system development	ISS
GO:0061452	Process	Retrotrapezoid nucleus neuron differentiation	ISS
GO:0061549	Process	Sympathetic ganglion development	ISS
GO:0071157	Process	Negative regulation of cell cycle arrest	ISS
GO:0071542	Process	Dopaminergic neuron differentiation	IC	19573018
GO:0071542	Process	Dopaminergic neuron differentiation	ISS
GO:0071773	Process	Cellular response to BMP stimulus	ISS
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	21977017
GO:1901166	Process	Neural crest cell migration involved in autonomic nervous system development	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 603851
• HGNC: 9143
• e!Ensembl: ENSG00000109132

Protein

• UniProt ID: Q99453
• Protein name: Paired mesoderm homeobox protein 2B (Neuroblastoma Phox) (NBPhox) (PHOX2B homeodomain protein) (Paired-like homeobox 2B)
• Protein function: Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation o
• PDB: 7MJA, 8EK5, 8P7G, 8PTL, 8PUI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	99 → 155	Homeodomain	Domain

• Sequence:

  MYKMEYSYLNSSAYESCMAGMDTSSLASAYADFSSCSQASGFQYNPIRTTFGATSGCPSL
  TPGSCSLGTLRDHQSSPYAAVPYKLFTDHGGLNEKRKQRRIRTTFTSAQLKELERVFAET
  HYPDIYTREELALKIDLTEARVQVWFQNRRAKFRKQERAAAAAAAAAKNGSSGKKSDSSR
  DDESKEAKSTDPDSTGGPGPNPNPTPSCGANGGGGGGPSPAGAPGAAGPGGPGGEPGKGG
  AAAAAAAAAAAAAAAAAAAAGGLAAAGGPGQGWAPGPGPITSIPDSLGGPFASVLSSLQR
  PNGAKAALVKSSMF

• Sequence length: 314

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Congenital central hypoventilation	Congenital central hypoventilation	rs587776626, rs1733878065, rs761018157, rs779557320, rs772448418, rs775006915, rs1733941453, rs73810366	14608649, 14566559, 12640453, 16691592, 15657873, 20208042, 26063465, 15334515, 15024693
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	14608649, 12640453
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	rs104893891, rs76262710, rs75075748, rs75996173, rs79014735, rs77316810, rs75076352, rs76087194, rs76534745, rs76764689, rs76449634, rs78098482, rs79661516, rs104894389, rs769735757, rs267606780, rs1568823467, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869
Hirschsprung disease-ganglioneuroblastoma syndrome	Hirschsprung disease-ganglioneuroblastoma syndrome	rs28939716
Mental retardation	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
Neuroblastoma	Neuroblastoma	rs121908161, rs113994087, rs113994089, rs281864719, rs863225285, rs863225284, rs863225283, rs281864720, rs863225282, rs863225281, rs1057519698, rs915983602, rs1469271544	15024693, 30127528, 25174395
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	16021468, 21881099, 14709596

Unknown
Disease name	Disease term	dbSNP ID	References
Cardiovascular abnormalities	Cardiovascular Abnormalities
Crohn disease	Crohn Disease, Regional enteritis	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	17435756
Crohn`s disease of large bowel	Crohn`s disease of large bowel		17435756
Crohn`s disease of the ileum	Crohn`s disease of the ileum		17435756
Ganglioneuroblastoma	Ganglioneuroblastoma
Ganglioneuroma	Ganglioneuroma
Gastroesophageal reflux disease	Gastroesophageal reflux disease
Hirschsprung disease ganglioneuroblastoma	Hirschsprung disease ganglioneuroblastoma		28371199
Ileocolitis	IIeocolitis		17435756
Impaired cognition	Impaired cognition
Lung diseases	Lung diseases
Mouth abnormalities	Mouth Abnormalities
Nervous system neoplasms	Nervous System Neoplasms
Neural crest tumor	Neural crest tumor		15024693
Ondine syndrome	Ondine syndrome
Posteriorly rotated ear	Posteriorly rotated ear
Sleep apnea	Sleep Apnea, Central
Strabismus	Strabismus