DUOX2 (dual oxidase 2)

Gene

• Entrez ID: 50506
• Gene name: Dual oxidase 2
• Gene symbol: DUOX2
• Synonyms: LNOX2, NOXEF2, P138-TOX, TDH6, THOX2
• Chromosome: 15
• Chromosome location: 15q21.1
• Summary: The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide tra

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs119472026	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs119472027	G>A	Pathogenic	Coding sequence variant, stop gained
rs119472028	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs119472029	G>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs139161034	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs180671269	T>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs181461079	C>A,T	Likely-pathogenic, likely-benign	Missense variant, coding sequence variant
rs191759494	C>G,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs199589510	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, stop gained
rs199752932	A>G	Likely-pathogenic	Splice donor variant
rs200592893	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs368488511	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs375943962	C>A	Likely-pathogenic	Intron variant
rs376983373	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs377189285	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs530719719	ACGA>-	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs567500345	C>-,CC	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs748194265	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs748793969	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs751410726	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs752635135	C>G	Pathogenic	Splice donor variant
rs758000012	T>G	Likely-pathogenic	Splice acceptor variant
rs760031457	GGAGCTGAGAAAAAGAAA>-	Likely-pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs764517475	C>G	Pathogenic	Splice acceptor variant
rs771198569	G>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs775863038	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1566978577	ACCACGTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1595527456	->CTGAGAGCTTGGGAGCTTT	Pathogenic	Coding sequence variant, frameshift variant
rs1595529163	TC>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT640115	hsa-miR-513b-3p	HITS-CLIP	23824327
MIRT640114	hsa-miR-4661-3p	HITS-CLIP	23824327
MIRT640113	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT640112	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT640111	hsa-miR-6847-5p	HITS-CLIP	23824327
MIRT640110	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT640109	hsa-miR-5193	HITS-CLIP	23824327
MIRT640108	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT640107	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT640106	hsa-miR-4469	HITS-CLIP	23824327
MIRT640105	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT640104	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT640103	hsa-miR-7977	HITS-CLIP	23824327
MIRT640102	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT640109	hsa-miR-5193	Immunohistochemistry (IHC), Western blotting	33748270
MIRT732625	hsa-miR-1343-3p	Immunohistochemistry (IHC), Western blotting	33748270
MIRT640115	hsa-miR-513b-3p	HITS-CLIP	23824327
MIRT640114	hsa-miR-4661-3p	HITS-CLIP	23824327
MIRT640113	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT640112	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT640111	hsa-miR-6847-5p	HITS-CLIP	23824327
MIRT640110	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT640109	hsa-miR-5193	HITS-CLIP	23824327
MIRT640108	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT640107	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT640106	hsa-miR-4469	HITS-CLIP	23824327
MIRT640105	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT640104	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT640103	hsa-miR-7977	HITS-CLIP	23824327
MIRT640102	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT947281	hsa-miR-3134	CLIP-seq
MIRT947282	hsa-miR-342-5p	CLIP-seq
MIRT947283	hsa-miR-3688-3p	CLIP-seq
MIRT947284	hsa-miR-4314	CLIP-seq
MIRT947285	hsa-miR-4534	CLIP-seq
MIRT947286	hsa-miR-4651	CLIP-seq
MIRT947287	hsa-miR-4664-5p	CLIP-seq
MIRT947288	hsa-miR-4667-5p	CLIP-seq
MIRT947289	hsa-miR-4700-5p	CLIP-seq
MIRT947290	hsa-miR-608	CLIP-seq
MIRT947291	hsa-miR-637	CLIP-seq
MIRT1980590	hsa-miR-1255a	CLIP-seq
MIRT1980591	hsa-miR-1255b	CLIP-seq
MIRT947281	hsa-miR-3134	CLIP-seq
MIRT1980592	hsa-miR-329	CLIP-seq
MIRT947282	hsa-miR-342-5p	CLIP-seq
MIRT1980593	hsa-miR-362-3p	CLIP-seq
MIRT947283	hsa-miR-3688-3p	CLIP-seq
MIRT1980594	hsa-miR-3941	CLIP-seq
MIRT947284	hsa-miR-4314	CLIP-seq
MIRT947285	hsa-miR-4534	CLIP-seq
MIRT947286	hsa-miR-4651	CLIP-seq
MIRT947287	hsa-miR-4664-5p	CLIP-seq
MIRT947288	hsa-miR-4667-5p	CLIP-seq
MIRT947289	hsa-miR-4700-5p	CLIP-seq
MIRT1980595	hsa-miR-490-5p	CLIP-seq
MIRT1980596	hsa-miR-500a	CLIP-seq
MIRT1980597	hsa-miR-603	CLIP-seq
MIRT947290	hsa-miR-608	CLIP-seq
MIRT947291	hsa-miR-637	CLIP-seq
MIRT2215570	hsa-miR-1184	CLIP-seq
MIRT2215571	hsa-miR-1205	CLIP-seq
MIRT2215572	hsa-miR-2110	CLIP-seq
MIRT2215573	hsa-miR-3144-5p	CLIP-seq
MIRT2215574	hsa-miR-3150a-3p	CLIP-seq
MIRT2215575	hsa-miR-3158-5p	CLIP-seq
MIRT2215576	hsa-miR-3184	CLIP-seq
MIRT2215577	hsa-miR-3191	CLIP-seq
MIRT2215578	hsa-miR-3194-3p	CLIP-seq
MIRT2215579	hsa-miR-423-5p	CLIP-seq
MIRT2215580	hsa-miR-4260	CLIP-seq
MIRT2215581	hsa-miR-4267	CLIP-seq
MIRT2215582	hsa-miR-4283	CLIP-seq
MIRT2215583	hsa-miR-4290	CLIP-seq
MIRT2215584	hsa-miR-4652-5p	CLIP-seq
MIRT2215585	hsa-miR-4681	CLIP-seq
MIRT2215586	hsa-miR-4687-5p	CLIP-seq
MIRT2215587	hsa-miR-4747-5p	CLIP-seq
MIRT2215588	hsa-miR-510	CLIP-seq
MIRT2215589	hsa-miR-512-5p	CLIP-seq
MIRT2215590	hsa-miR-760	CLIP-seq
MIRT2215591	hsa-miR-766	CLIP-seq
MIRT2448603	hsa-miR-3190	CLIP-seq
MIRT2448604	hsa-miR-4461	CLIP-seq
MIRT2448605	hsa-miR-4752	CLIP-seq
MIRT2448606	hsa-miR-581	CLIP-seq
MIRT2448607	hsa-miR-7	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004601	Function	Peroxidase activity	IEA
GO:0005509	Function	Calcium ion binding	IDA	15972824
GO:0005515	Function	Protein binding	IPI	19339556, 25761904
GO:0005783	Component	Endoplasmic reticulum	IDA	19339556
GO:0005829	Component	Cytosol	IDA	19339556
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	19339556
GO:0005886	Component	Plasma membrane	IGI	16651268, 25761904
GO:0005886	Component	Plasma membrane	TAS
GO:0006590	Process	Thyroid hormone generation	IEA
GO:0006590	Process	Thyroid hormone generation	TAS
GO:0006952	Process	Defense response	IBA	21873635
GO:0006979	Process	Response to oxidative stress	IEA
GO:0009615	Process	Response to virus	IDA	16111680
GO:0009986	Component	Cell surface	IGI	22814254
GO:0016174	Function	NAD(P)H oxidase H2O2-forming activity	IDA	15972824
GO:0016174	Function	NAD(P)H oxidase H2O2-forming activity	IMP	21565790
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IBA	21873635
GO:0016324	Component	Apical plasma membrane	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IDA	16111680
GO:0019221	Process	Cytokine-mediated signaling pathway	ISS
GO:0020037	Function	Heme binding	IEA
GO:0030054	Component	Cell junction	IEA
GO:0031252	Component	Cell leading edge	IGI	19339556
GO:0042335	Process	Cuticle development	ISS
GO:0042446	Process	Hormone biosynthetic process	IEA
GO:0042554	Process	Superoxide anion generation	IBA	21873635
GO:0042554	Process	Superoxide anion generation	IGI	22814254
GO:0042744	Process	Hydrogen peroxide catabolic process	IEA
GO:0043020	Component	NADPH oxidase complex	IBA	21873635
GO:0045177	Component	Apical part of cell	IDA	25761904
GO:0050665	Process	Hydrogen peroxide biosynthetic process	IGI	16651268, 19339556, 22814254, 25761904
GO:0051591	Process	Response to cAMP	IDA	15062544
GO:0051591	Process	Response to cAMP	ISS
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0090303	Process	Positive regulation of wound healing	IGI	19339556
GO:0098869	Process	Cellular oxidant detoxification	IEA
GO:2000147	Process	Positive regulation of cell motility	IGI	19339556

Other IDs

• MIM: 606759
• HGNC: 13273
• e!Ensembl: ENSG00000140279

Protein

• UniProt ID: Q9NRD8
• Protein name: Dual oxidase 2 (EC 1.11.1.-) (EC 1.6.3.1) (Large NOX 2) (Long NOX 2) (NADH/NADPH thyroid oxidase p138-tox) (NADPH oxidase/peroxidase DUOX2) (NADPH thyroid oxidase 2) (Thyroid oxidase 2) (p138 thyroid oxidase)
• Protein function: Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial defense at the surface of mucosa. May have it
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03098	An_peroxidase	35 → 560	Animal haem peroxidase	Domain
  PF00036	EF-hand_1	823 → 851	EF hand	Domain
  PF01794	Ferric_reduct	1084 → 1233	Ferric reductase like transmembrane component	Family
  PF08022	FAD_binding_8	1269 → 1371	FAD-binding domain	Domain
  PF08030	NAD_binding_6	1377 → 1531	Ferric reductase NAD binding domain	Domain

• Sequence:

  MLRARPEALMLLGALLTGSLGPSGNQDALSLPWEVQRYDGWFNNLRHHERGAVGCRLQRR
  VPANYADGVYQALEEPQLPNPRRLSNAATRGIAGLPSLHNRTVLGVFFGYHVLSDVVSVE
  TPGCPAEFLNIRIPPGDPVFDPDQRGDVVLPFQRSRWDPETGRSPSNPRDLANQVTGWLD
  GSAIYGSSHSWSDALRSFSGGQLASGPDPAFPRDSQNPLLMWAAPDPATGQNGPRGLYAF
  GAERGNREPFLQALGLLWFRYHNLWAQRLARQHPDWEDEELFQHARKRVIATYQNIAVYE
  WLPSFLQKTLPEYTGYRPFLDPSISPEFVVASEQFFSTMVPPGVYMRNASCHFRKVLNKG
  FQSSQALRVCNNYWIRENPNLNSTQEVNELLLGMASQISELEDNIVVEDLRDYWPGPGKF
  SRTDYVASSIQRGRDMGLPSYSQALLAFGLDIPRNWSDLNPNVDPQVLEATAALYNQDLS
  QLELLLGGLLESHGDPGPLFSAIVLDQFVRLRDGDRYWFENTRNGLFSKKEIEDIRNTTL
  RDVLVAVINIDPSALQPNVFVWHKGAPCPQPKQLTTDGLPQCAPLTVLDFFEGSSPGFAI
  TIIALCCLPLVSLLLSGVVAYFRGREHKKLQKKLKESVKKEAAKDGVPAMEWPGPKERSS
  PIIIQLLSDRCLQVLNRHLTVLRVVQLQPLQQVNLILSNNRGCRTLLLKIPKEYDLVLLF
  SSEEERGAFVQQLWDFCVRWALGLHVAEMSEKELFRKAVTKQQRERILEIFFRHLFAQVL
  DINQADAGTLPLDSSQKVREALTCELSRAEFAESLGLKPQDMFVESMFSLADKDGNGYLS
  FREFLDILVVFMKGSPEDKSRLMFTMYDLDENGFLSKDEFFTMMRSFIEISNNCLSKAQL
  AEVVESMFRESGFQDKEELTWEDFHFMLRDHDSELRFTQLCVKGGGGGGNGIRDIFKQNI
  SCRVSFITRTPGERSHPQGLGPPAPEAPELGGPGLKKRFGKKAAVPTPRLYTEALQEKMQ
  RGFLAQKLQQYKRFVENYRRHIVCVAIFSAICVGVFADRAYYYGFASPPSDIAQTTLVGI
  ILSRGTAASVSFMFSYILLTMCRNLITFLRETFLNRYVPFDAAVDFHRWIAMAAVVLAIL
  HSAGHAVNVYIFSVSPLSLLACIFPNVFVNDGSKLPQKFYWWFFQTVPGMTGVLLLLVLA
  IMYVFASHHFRRRSFRGFWLTHHLYILLYALLIIHGSYALIQLPTFHIYFLVPAIIYGGD
  KLVSLSRKKVEISVVKAELLPSGVTYLQFQRPQGFEYKSGQWVRIACLALGTTEYHPFTL
  TSAPHEDTLSLHIRAVGPWTTRLREIYSSPKGNGCAGYPKLYLDGPFGEGHQEWHKFEVS
  VLVGGGIGVTPFASILKDLVFKSSLGSQMLCKKIYFIWVTRTQRQFEWLADIIQEVEEND
  HQDLVSVHIYVTQLAEKFDLRTTMLYICERHFQKVLNRSLFTGLRSITHFGRPPFEPFFN
  SLQEVHPQVRKIGVFSCGPPGMTKNVEKACQLVNRQDRAHFMHHYENF

• Sequence length: 1548

Pathways

KEGG:

Thyroid hormone synthesis

Reactome:

Thyroxine biosynthesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Congenital hypothyroidism	Congenital Hypothyroidism	rs121909180, rs121912646, rs121912648, rs1587178555, rs530719719, rs189261858, rs567500345, rs560702757, rs374620255, rs774517670	16322276, 27166716, 16134168
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
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
Thyroid dyshormonogenesis	Thyroid Dyshormonogenesis 6, Thyroid Dyshormonogenesis 1, Familial thyroid dyshormonogenesis	rs119472026, rs119472027, rs119472028, rs119472029, rs530719719, rs199589510, rs191759494, rs567500345, rs180671269, rs748194265, rs748793969, rs754179275, rs368975704, rs200592893, rs1566977567, rs1566978577, rs752635135, rs376983373	16134168, 25248169, 27108200, 18765513, 12110737, 16322276, 27821020, 27166716, 27498126, 26742565, 17121535, 27557340, 23457309, 28541007, 21900383, 26709262, 20187165, 26349762, 24423310, 30154845, 21543982, 20537182, 25248169, 26990548, 16322276, 27821020, 26709262, 30240412, 28666341, 12110737, 23457309, 21900383, 20972728, 24423310, 21565790

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital exomphalos	Congenital exomphalos
Congenital myxedema	Myxedema, Congenital		16134168, 16322276
Dwarfism	Dwarfism
Dysmorphic features	Dysmorphic features		17121535, 12110737, 23457309, 28666341, 16322276, 21900383, 16134168, 24423310, 27108200, 24735383, 21565790, 18765513, 20187165, 19789206, 17374849
Endemic cretinism	Endemic Cretinism		16322276, 16134168
Genetic transient congenital hypothyroidism	Genetic transient congenital hypothyroidism		25248169
Hypersomnia	Hypersomnia
Macroglossia	Macroglossia
Transient hypothyroxinaemia of prematurity	Transient hypothyroxinaemia of prematurity		27166716