HNRNPH2 (heterogeneous nuclear ribonucleoprotein H2)

Gene

• Entrez ID: 3188
• Gene name: Heterogeneous nuclear ribonucleoprotein H2
• Gene symbol: HNRNPH2
• Synonyms: FTP3, HNRPH', HNRPH2, MRXSB, NRPH2, hnRNPH'
• Chromosome: X
• Chromosome location: Xq22.1
• Summary: This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in th

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT043033	hsa-miR-324-5p	CLASH	23622248
MIRT041915	hsa-miR-484	CLASH	23622248
MIRT1051559	hsa-miR-1237	CLIP-seq
MIRT1051560	hsa-miR-1245	CLIP-seq
MIRT1051561	hsa-miR-1248	CLIP-seq
MIRT1051562	hsa-miR-132	CLIP-seq
MIRT1051563	hsa-miR-1323	CLIP-seq
MIRT1051564	hsa-miR-188-3p	CLIP-seq
MIRT1051565	hsa-miR-200b	CLIP-seq
MIRT1051566	hsa-miR-200c	CLIP-seq
MIRT1051567	hsa-miR-212	CLIP-seq
MIRT1051568	hsa-miR-300	CLIP-seq
MIRT1051569	hsa-miR-3126-3p	CLIP-seq
MIRT1051570	hsa-miR-331-5p	CLIP-seq
MIRT1051571	hsa-miR-337-3p	CLIP-seq
MIRT1051572	hsa-miR-338-5p	CLIP-seq
MIRT1051573	hsa-miR-3591-5p	CLIP-seq
MIRT1051574	hsa-miR-3688-3p	CLIP-seq
MIRT1051575	hsa-miR-381	CLIP-seq
MIRT1051576	hsa-miR-383	CLIP-seq
MIRT1051577	hsa-miR-3910	CLIP-seq
MIRT1051578	hsa-miR-4268	CLIP-seq
MIRT1051579	hsa-miR-4272	CLIP-seq
MIRT1051580	hsa-miR-4275	CLIP-seq
MIRT1051581	hsa-miR-4282	CLIP-seq
MIRT1051582	hsa-miR-429	CLIP-seq
MIRT1051583	hsa-miR-4307	CLIP-seq
MIRT1051584	hsa-miR-4330	CLIP-seq
MIRT1051585	hsa-miR-4448	CLIP-seq
MIRT1051586	hsa-miR-4449	CLIP-seq
MIRT1051587	hsa-miR-4457	CLIP-seq
MIRT1051588	hsa-miR-4473	CLIP-seq
MIRT1051589	hsa-miR-4509	CLIP-seq
MIRT1051590	hsa-miR-4539	CLIP-seq
MIRT1051591	hsa-miR-4646-3p	CLIP-seq
MIRT1051592	hsa-miR-4671-3p	CLIP-seq
MIRT1051593	hsa-miR-4671-5p	CLIP-seq
MIRT1051594	hsa-miR-4684-5p	CLIP-seq
MIRT1051595	hsa-miR-4694-3p	CLIP-seq
MIRT1051596	hsa-miR-4699-5p	CLIP-seq
MIRT1051597	hsa-miR-4719	CLIP-seq
MIRT1051598	hsa-miR-4724-5p	CLIP-seq
MIRT1051599	hsa-miR-4744	CLIP-seq
MIRT1051600	hsa-miR-4765	CLIP-seq
MIRT1051601	hsa-miR-4772-5p	CLIP-seq
MIRT1051602	hsa-miR-4795-3p	CLIP-seq
MIRT1051603	hsa-miR-4799-5p	CLIP-seq
MIRT1051604	hsa-miR-483-3p	CLIP-seq
MIRT1051605	hsa-miR-487a	CLIP-seq
MIRT1051606	hsa-miR-5096	CLIP-seq
MIRT1051607	hsa-miR-512-3p	CLIP-seq
MIRT1051608	hsa-miR-513b	CLIP-seq
MIRT1051609	hsa-miR-513c	CLIP-seq
MIRT1051610	hsa-miR-514b-5p	CLIP-seq
MIRT1051611	hsa-miR-516b	CLIP-seq
MIRT1051612	hsa-miR-520f	CLIP-seq
MIRT1051613	hsa-miR-522	CLIP-seq
MIRT1051614	hsa-miR-532-3p	CLIP-seq
MIRT1051615	hsa-miR-548a-3p	CLIP-seq
MIRT1051616	hsa-miR-548a-5p	CLIP-seq
MIRT1051617	hsa-miR-548ab	CLIP-seq
MIRT1051618	hsa-miR-548ak	CLIP-seq
MIRT1051619	hsa-miR-548an	CLIP-seq
MIRT1051620	hsa-miR-548b-5p	CLIP-seq
MIRT1051621	hsa-miR-548c-3p	CLIP-seq
MIRT1051622	hsa-miR-548c-5p	CLIP-seq
MIRT1051623	hsa-miR-548d-5p	CLIP-seq
MIRT1051624	hsa-miR-548e	CLIP-seq
MIRT1051625	hsa-miR-548f	CLIP-seq
MIRT1051626	hsa-miR-548h	CLIP-seq
MIRT1051627	hsa-miR-548i	CLIP-seq
MIRT1051628	hsa-miR-548j	CLIP-seq
MIRT1051629	hsa-miR-548k	CLIP-seq
MIRT1051630	hsa-miR-548l	CLIP-seq
MIRT1051631	hsa-miR-548o	CLIP-seq
MIRT1051632	hsa-miR-548w	CLIP-seq
MIRT1051633	hsa-miR-548y	CLIP-seq
MIRT1051634	hsa-miR-559	CLIP-seq
MIRT1051635	hsa-miR-584	CLIP-seq
MIRT1051636	hsa-miR-624	CLIP-seq
MIRT1051637	hsa-miR-676	CLIP-seq
MIRT1051638	hsa-miR-942	CLIP-seq
MIRT2011751	hsa-miR-101	CLIP-seq
MIRT2011752	hsa-miR-1224-5p	CLIP-seq
MIRT2011753	hsa-miR-144	CLIP-seq
MIRT2011754	hsa-miR-216a	CLIP-seq
MIRT2011755	hsa-miR-216b	CLIP-seq
MIRT2011756	hsa-miR-3915	CLIP-seq
MIRT2011757	hsa-miR-3928	CLIP-seq
MIRT2011758	hsa-miR-4436b-5p	CLIP-seq
MIRT1051587	hsa-miR-4457	CLIP-seq
MIRT2011759	hsa-miR-4689	CLIP-seq
MIRT2011760	hsa-miR-4700-3p	CLIP-seq
MIRT2011761	hsa-miR-4798-3p	CLIP-seq
MIRT1051603	hsa-miR-4799-5p	CLIP-seq
MIRT2011762	hsa-miR-5095	CLIP-seq
MIRT1051608	hsa-miR-513b	CLIP-seq
MIRT2011763	hsa-miR-582-5p	CLIP-seq
MIRT2011764	hsa-miR-600	CLIP-seq
MIRT1051569	hsa-miR-3126-3p	CLIP-seq
MIRT1051573	hsa-miR-3591-5p	CLIP-seq
MIRT2244016	hsa-miR-4536	CLIP-seq
MIRT1051611	hsa-miR-516b	CLIP-seq
MIRT2011751	hsa-miR-101	CLIP-seq
MIRT2011752	hsa-miR-1224-5p	CLIP-seq
MIRT1051559	hsa-miR-1237	CLIP-seq
MIRT1051561	hsa-miR-1248	CLIP-seq
MIRT2011753	hsa-miR-144	CLIP-seq
MIRT1051564	hsa-miR-188-3p	CLIP-seq
MIRT2547049	hsa-miR-217	CLIP-seq
MIRT1051569	hsa-miR-3126-3p	CLIP-seq
MIRT1051570	hsa-miR-331-5p	CLIP-seq
MIRT1051573	hsa-miR-3591-5p	CLIP-seq
MIRT2011756	hsa-miR-3915	CLIP-seq
MIRT2011757	hsa-miR-3928	CLIP-seq
MIRT1051578	hsa-miR-4268	CLIP-seq
MIRT2011758	hsa-miR-4436b-5p	CLIP-seq
MIRT1051585	hsa-miR-4448	CLIP-seq
MIRT1051588	hsa-miR-4473	CLIP-seq
MIRT1051592	hsa-miR-4671-3p	CLIP-seq
MIRT1051594	hsa-miR-4684-5p	CLIP-seq
MIRT2011759	hsa-miR-4689	CLIP-seq
MIRT1051597	hsa-miR-4719	CLIP-seq
MIRT2547050	hsa-miR-4738-3p	CLIP-seq
MIRT1051607	hsa-miR-512-3p	CLIP-seq
MIRT1051611	hsa-miR-516b	CLIP-seq
MIRT1051612	hsa-miR-520f	CLIP-seq
MIRT1051621	hsa-miR-548c-3p	CLIP-seq
MIRT2011763	hsa-miR-582-5p	CLIP-seq
MIRT1051638	hsa-miR-942	CLIP-seq
MIRT2011752	hsa-miR-1224-5p	CLIP-seq
MIRT1051559	hsa-miR-1237	CLIP-seq
MIRT1051561	hsa-miR-1248	CLIP-seq
MIRT1051564	hsa-miR-188-3p	CLIP-seq
MIRT2547049	hsa-miR-217	CLIP-seq
MIRT1051569	hsa-miR-3126-3p	CLIP-seq
MIRT2682384	hsa-miR-3129-3p	CLIP-seq
MIRT1051570	hsa-miR-331-5p	CLIP-seq
MIRT1051573	hsa-miR-3591-5p	CLIP-seq
MIRT2011756	hsa-miR-3915	CLIP-seq
MIRT2011757	hsa-miR-3928	CLIP-seq
MIRT1051578	hsa-miR-4268	CLIP-seq
MIRT1051585	hsa-miR-4448	CLIP-seq
MIRT1051588	hsa-miR-4473	CLIP-seq
MIRT2682385	hsa-miR-4637	CLIP-seq
MIRT1051592	hsa-miR-4671-3p	CLIP-seq
MIRT1051594	hsa-miR-4684-5p	CLIP-seq
MIRT2011759	hsa-miR-4689	CLIP-seq
MIRT1051597	hsa-miR-4719	CLIP-seq
MIRT2547050	hsa-miR-4738-3p	CLIP-seq
MIRT2682386	hsa-miR-4803	CLIP-seq
MIRT1051604	hsa-miR-483-3p	CLIP-seq
MIRT1051607	hsa-miR-512-3p	CLIP-seq
MIRT1051611	hsa-miR-516b	CLIP-seq
MIRT1051612	hsa-miR-520f	CLIP-seq
MIRT1051621	hsa-miR-548c-3p	CLIP-seq
MIRT1051638	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	TAS
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	25416956, 26496610, 28514442, 32296183
GO:0005634	Component	Nucleus	TAS	7499401
GO:0005654	Component	Nucleoplasm	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016070	Process	RNA metabolic process	TAS
GO:0043484	Process	Regulation of RNA splicing	IBA	21873635
GO:1990904	Component	Ribonucleoprotein complex	IBA	21873635
GO:1990904	Component	Ribonucleoprotein complex	IDA	18809582

Other IDs

• MIM: 300610
• HGNC: 5042
• e!Ensembl: ENSG00000126945

Protein

• UniProt ID: P55795
• Protein name: Heterogeneous nuclear ribonucleoprotein H2 (hnRNP H2) (FTP-3) (Heterogeneous nuclear ribonucleoprotein H') (hnRNP H') [Cleaved into: Heterogeneous nuclear ribonucleoprotein H2, N-terminally processed]
• Protein function: This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Binds poly
• PDB: 1WEZ, 1WG5, 6DG1, 8SGH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00076	RRM_1	13 → 84	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF00076	RRM_1	113 → 182	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF08080	zf-RNPHF	255 → 290	RNPHF zinc finger	Domain
  PF00076	RRM_1	291 → 358	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain

• Sequence:

  MMLSTEGREGFVVKVRGLPWSCSADEVMRFFSDCKIQNGTSGIRFIYTREGRPSGEAFVE
  LESEEEVKLALKKDRETMGHRYVEVFKSNSVEMDWVLKHTGPNSPDTANDGFVRLRGLPF
  GCSKEEIVQFFSGLEIVPNGMTLPVDFQGRSTGEAFVQFASQEIAEKALKKHKERIGHRY
  IEIFKSSRAEVRTHYDPPRKLMAMQRPGPYDRPGAGRGYNSIGRGAGFERMRRGAYGGGY
  GGYDDYGGYNDGYGFGSDRFGRDLNYCFSGMSDHRYGDGGSSFQSTTGHCVHMRGLPYRA
  TENDIYNFFSPLNPMRVHIEIGPDGRVTGEADVEFATHEDAVAAMAKDKANMQHRYVELF
  LNSTAGTSGGAYDHSYVELFLNSTAGASGGAYGSQMMGGMGLSNQSSYGGPASQQLSGGY
  GGGYGGQSSMSGYDQVLQENSSDYQSNLA

• Sequence length: 449

Pathways

Reactome:

mRNA Splicing - Major Pathway
Processing of Capped Intron-Containing Pre-mRNA

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
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
Developmental regression	Developmental regression	rs1224421127
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
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Anxiety disorder	Anxiety
Congenital epicanthus	Congenital Epicanthus
Congenital pectus carinatum	Congenital pectus carinatum
Dwarfism	Dwarfism
Dysmorphic features	Dysmorphic features		25356899, 25348405, 27545675
Gastroesophageal reflux disease	Gastroesophageal reflux disease
High palate	Byzanthine arch palate
Macrostomia	Macrostomia
Micrognathism	Micrognathism
Obsessive-compulsive disorder	Obsessive compulsive behavior
Syndromic mental retardation, x-linked	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE		27545675