HELLS (helicase, lymphoid specific)

Gene

• Entrez ID: 3070
• Gene name: Helicase, lymphoid specific
• Gene symbol: HELLS
• Synonyms: ICF4, LSH, Nbla10143, PASG, SALNR, SMARCA6
• Chromosome: 10
• Chromosome location: 10q23.33
• Summary: This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140316223	T>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs879253733	A>G	Pathogenic	Coding sequence variant, missense variant
rs879253734	GTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs879253735	A>T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs879253736	->TGAGGAAA	Pathogenic	Stop gained, coding sequence variant, intron variant, initiator codon variant, genic upstream transcript variant, 5 prime UTR variant
rs879253737	GTT>-	Pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004361	hsa-miR-7-5p	Luciferase reporter assay	18823940
MIRT016323	hsa-miR-193b-3p	Microarray	20304954
MIRT022243	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT032248	hsa-let-7b-5p	Proteomics	18668040
MIRT039720	hsa-miR-615-3p	CLASH	23622248
MIRT039180	hsa-miR-769-5p	CLASH	23622248
MIRT036852	hsa-miR-877-3p	CLASH	23622248
MIRT716951	hsa-miR-205-3p	HITS-CLIP	19536157
MIRT716950	hsa-miR-138-2-3p	HITS-CLIP	19536157
MIRT716949	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT716948	hsa-miR-607	HITS-CLIP	19536157
MIRT735550	hsa-miR-451a	Luciferase reporter assay, Western blotting, qRT-PCR	33460027
MIRT716951	hsa-miR-205-3p	HITS-CLIP	19536157
MIRT716950	hsa-miR-138-2-3p	HITS-CLIP	19536157
MIRT716949	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT716948	hsa-miR-607	HITS-CLIP	19536157
MIRT1043840	hsa-miR-1246	CLIP-seq
MIRT1043841	hsa-miR-1299	CLIP-seq
MIRT1043842	hsa-miR-140-5p	CLIP-seq
MIRT1043843	hsa-miR-2116	CLIP-seq
MIRT1043844	hsa-miR-24	CLIP-seq
MIRT1043845	hsa-miR-28-3p	CLIP-seq
MIRT1043846	hsa-miR-3138	CLIP-seq
MIRT1043847	hsa-miR-323b-3p	CLIP-seq
MIRT1043848	hsa-miR-34b	CLIP-seq
MIRT1043849	hsa-miR-34c-3p	CLIP-seq
MIRT1043850	hsa-miR-3613-3p	CLIP-seq
MIRT1043851	hsa-miR-3616-5p	CLIP-seq
MIRT1043852	hsa-miR-3647-3p	CLIP-seq
MIRT1043853	hsa-miR-3647-5p	CLIP-seq
MIRT1043854	hsa-miR-3682-5p	CLIP-seq
MIRT1043855	hsa-miR-3692	CLIP-seq
MIRT1043856	hsa-miR-369-3p	CLIP-seq
MIRT1043857	hsa-miR-3713	CLIP-seq
MIRT1043858	hsa-miR-371-5p	CLIP-seq
MIRT1043859	hsa-miR-371b-5p	CLIP-seq
MIRT1043860	hsa-miR-374a	CLIP-seq
MIRT1043861	hsa-miR-374b	CLIP-seq
MIRT1043862	hsa-miR-375	CLIP-seq
MIRT1043863	hsa-miR-3923	CLIP-seq
MIRT1043864	hsa-miR-4264	CLIP-seq
MIRT1043865	hsa-miR-4273	CLIP-seq
MIRT1043866	hsa-miR-4495	CLIP-seq
MIRT1043867	hsa-miR-4511	CLIP-seq
MIRT1043868	hsa-miR-4517	CLIP-seq
MIRT1043869	hsa-miR-4643	CLIP-seq
MIRT1043870	hsa-miR-466	CLIP-seq
MIRT1043871	hsa-miR-4666-5p	CLIP-seq
MIRT1043872	hsa-miR-4677-5p	CLIP-seq
MIRT1043873	hsa-miR-4789-3p	CLIP-seq
MIRT1043874	hsa-miR-4795-5p	CLIP-seq
MIRT1043875	hsa-miR-505	CLIP-seq
MIRT1043876	hsa-miR-510	CLIP-seq
MIRT1043877	hsa-miR-512-5p	CLIP-seq
MIRT1043878	hsa-miR-548b-3p	CLIP-seq
MIRT1043879	hsa-miR-568	CLIP-seq
MIRT1043880	hsa-miR-573	CLIP-seq
MIRT1043881	hsa-miR-576-3p	CLIP-seq
MIRT1043882	hsa-miR-622	CLIP-seq
MIRT1043883	hsa-miR-7	CLIP-seq
MIRT1043884	hsa-miR-875-3p	CLIP-seq
MIRT1043885	hsa-miR-889	CLIP-seq
MIRT1043843	hsa-miR-2116	CLIP-seq
MIRT1043844	hsa-miR-24	CLIP-seq
MIRT1043846	hsa-miR-3138	CLIP-seq
MIRT1043850	hsa-miR-3613-3p	CLIP-seq
MIRT1043851	hsa-miR-3616-5p	CLIP-seq
MIRT1043852	hsa-miR-3647-3p	CLIP-seq
MIRT1043853	hsa-miR-3647-5p	CLIP-seq
MIRT1043854	hsa-miR-3682-5p	CLIP-seq
MIRT1043857	hsa-miR-3713	CLIP-seq
MIRT1043858	hsa-miR-371-5p	CLIP-seq
MIRT1043859	hsa-miR-371b-5p	CLIP-seq
MIRT1043862	hsa-miR-375	CLIP-seq
MIRT1043864	hsa-miR-4264	CLIP-seq
MIRT1043865	hsa-miR-4273	CLIP-seq
MIRT1043872	hsa-miR-4677-5p	CLIP-seq
MIRT2009446	hsa-miR-4733-5p	CLIP-seq
MIRT1043874	hsa-miR-4795-5p	CLIP-seq
MIRT1043876	hsa-miR-510	CLIP-seq
MIRT1043877	hsa-miR-512-5p	CLIP-seq
MIRT1043880	hsa-miR-573	CLIP-seq
MIRT1043882	hsa-miR-622	CLIP-seq
MIRT1043840	hsa-miR-1246	CLIP-seq
MIRT1043842	hsa-miR-140-5p	CLIP-seq
MIRT1043843	hsa-miR-2116	CLIP-seq
MIRT2241822	hsa-miR-216b	CLIP-seq
MIRT2241823	hsa-miR-217	CLIP-seq
MIRT1043844	hsa-miR-24	CLIP-seq
MIRT1043846	hsa-miR-3138	CLIP-seq
MIRT1043847	hsa-miR-323b-3p	CLIP-seq
MIRT2241824	hsa-miR-3545-3p	CLIP-seq
MIRT1043851	hsa-miR-3616-5p	CLIP-seq
MIRT1043853	hsa-miR-3647-5p	CLIP-seq
MIRT1043854	hsa-miR-3682-5p	CLIP-seq
MIRT1043857	hsa-miR-3713	CLIP-seq
MIRT1043858	hsa-miR-371-5p	CLIP-seq
MIRT1043859	hsa-miR-371b-5p	CLIP-seq
MIRT1043862	hsa-miR-375	CLIP-seq
MIRT1043864	hsa-miR-4264	CLIP-seq
MIRT1043865	hsa-miR-4273	CLIP-seq
MIRT1043868	hsa-miR-4517	CLIP-seq
MIRT2241825	hsa-miR-4641	CLIP-seq
MIRT1043869	hsa-miR-4643	CLIP-seq
MIRT1043870	hsa-miR-466	CLIP-seq
MIRT1043872	hsa-miR-4677-5p	CLIP-seq
MIRT2009446	hsa-miR-4733-5p	CLIP-seq
MIRT1043873	hsa-miR-4789-3p	CLIP-seq
MIRT1043874	hsa-miR-4795-5p	CLIP-seq
MIRT1043876	hsa-miR-510	CLIP-seq
MIRT1043877	hsa-miR-512-5p	CLIP-seq
MIRT1043880	hsa-miR-573	CLIP-seq
MIRT1043882	hsa-miR-622	CLIP-seq
MIRT1043885	hsa-miR-889	CLIP-seq
MIRT1043841	hsa-miR-1299	CLIP-seq
MIRT1043842	hsa-miR-140-5p	CLIP-seq
MIRT1043855	hsa-miR-3692	CLIP-seq
MIRT1043874	hsa-miR-4795-5p	CLIP-seq
MIRT1043879	hsa-miR-568	CLIP-seq
MIRT1043883	hsa-miR-7	CLIP-seq
MIRT1043884	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000775	Component	Chromosome, centromeric region	ISS
GO:0003682	Function	Chromatin binding	IBA	21873635
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	22157815
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005721	Component	Pericentric heterochromatin	IBA	21873635
GO:0005721	Component	Pericentric heterochromatin	ISS
GO:0006306	Process	DNA methylation	IBA	21873635
GO:0006346	Process	DNA methylation-dependent heterochromatin assembly	IBA	21873635
GO:0006346	Process	DNA methylation-dependent heterochromatin assembly	ISS
GO:0007049	Process	Cell cycle	IEA
GO:0007275	Process	Multicellular organism development	ISS
GO:0010216	Process	Maintenance of DNA methylation	IBA	21873635
GO:0010216	Process	Maintenance of DNA methylation	ISS
GO:0031508	Process	Pericentric heterochromatin assembly	IBA	21873635
GO:0031508	Process	Pericentric heterochromatin assembly	ISS
GO:0046651	Process	Lymphocyte proliferation	IBA	21873635
GO:0046651	Process	Lymphocyte proliferation	ISS
GO:0051301	Process	Cell division	IEA

Other IDs

• MIM: 603946
• HGNC: 4861
• e!Ensembl: ENSG00000119969

Protein

• UniProt ID: Q9NRZ9
• Protein name: Lymphoid-specific helicase (EC 3.6.4.-) (Proliferation-associated SNF2-like protein) (SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin subfamily A member 6)
• Protein function: Plays an essential role in normal development and survival. Involved in regulation of the expansion or survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the imprinted CDKN1C gene through DN
• PDB: 8SKZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00176	SNF2_N	226 → 577	SNF2 family N-terminal domain	Family
  PF00271	Helicase_C	599 → 712	Helicase conserved C-terminal domain	Family

• Sequence:

  MPAERPAGSGGSEAPAMVEQLDTAVITPAMLEEEEQLEAAGLERERKMLEKARMSWDRES
  TEIRYRRLQHLLEKSNIYSKFLLTKMEQQQLEEQKKKEKLERKKESLKVKKGKNSIDASE
  EKPVMRKKRGREDESYNISEVMSKEEILSVAKKNKKENEDENSSSTNLCVEDLQKNKDSN
  SIIKDRLSETVRQNTKFFFDPVRKCNGQPVPFQQPKHFTGGVMRWYQVEGMEWLRMLWEN
  GINGILADEMGLGKTVQCIATIALMIQRGVPGPFLVCGPLSTLPNWMAEFKRFTPDIPTM
  LYHGTQEERQKLVRNIYKRKGTLQIHPVVITSFEIAMRDRNALQHCYWKYLIVDEGHRIK
  NMKCRLIRELKRFNADNKLLLTGTPLQNNLSELWSLLNFLLPDVFDDLKSFESWFDITSL
  SETAEDIIAKEREQNVLHMLHQILTPFLLRRLKSDVALEVPPKREVVVYAPLSKKQEIFY
  TAIVNRTIANMFGSSEKETIELSPTGRPKRRTRKSINYSKIDDFPNELEKLISQIQPEVD
  RERAVVEVNIPVESEVNLKLQNIMMLLRKCCNHPYLIEYPIDPVTQEFKIDEELVTNSGK
  FLILDRMLPELKKRGHKVLLFSQMTSMLDILMDYCHLRDFNFSRLDGSMSYSEREKNMHS
  FNTDPEVFIFLVSTRAGGLGINLTAADTVIIYDSDWNPQSDLQAQDRCHRIGQTKPVVVY
  RLVTANTIDQKIVERAAAKRKLEKLIIHKNHFKGGQSGLNLSKNFLDPKELMELLKSRDY
  EREIKGSREKVISDKDLELLLDRSDLIDQMNASGPIKEKMGIFKILENSEDSSPECLF

• Sequence length: 838

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Agammaglobulinemia	Agammaglobulinemia	rs2134166251, rs128620183, rs128620185, rs128621193, rs128621201, rs128621204, rs121912424, rs267606711, rs376256147, rs281865422, rs1600631593, rs1555843601, rs267606871, rs879255271, rs2142904392, rs1555976766, rs1555977461, rs1555977580, rs1555977592, rs1555977598, rs1555978024, rs1555978197, rs1555978277, rs1555978891, rs1555980049, rs1555980799, rs1555980866, rs1554906579, rs1568801716, rs1565638431, rs2095906547, rs2095906404
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
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
Immunodeficiency-centromeric instability-facial anomalies syndrome	ICF syndrome, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4	rs121908939, rs121908940, rs121908941, rs121908942, rs121908943, rs547940069, rs121908944, rs121908945, rs121908946, rs121908947, rs387907104, rs1582683374, rs387907105, rs387907106, rs1562305058, rs879253733, rs140316223, rs879253734, rs879253735, rs879253736, rs879253737, rs879253738, rs876657409, rs370384522, rs1131691654, rs370370334, rs867580676, rs1368779496	26216346, 16395332
Immunodeficiency	Immunodeficiency syndrome, variable	rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866, rs483352928, rs121918659, rs111033580, rs111033581, rs74315290, rs193922740, rs193922741, rs104894199, rs483352927, rs104894286, rs1571865049, rs886041032, rs2069709, rs587776822, rs74315444, rs587776823, rs1315265916, rs104893893, rs104893894, rs121434560, rs387906572, rs587776853, rs104893973, rs587776854, rs587776855, rs587776857, rs104893974, rs121912715, rs1393707607, rs113994136, rs387906593, rs587776870, rs387906763, rs387906913, rs199469663, rs199469662, rs199469664, rs193922640, rs193922641, rs193922645, rs398122890, rs387907316, rs397514710, rs398122383, rs397515453, rs397514332, rs398123058, rs397518423, rs587777075, rs199676861, rs77563738, rs587777337, rs28730670, rs587777389, rs587777390, rs587777413, rs587777414, rs587777415, rs587777416, rs267608260, rs267608261, rs587778405, rs587777446, rs587777562, rs587777564, rs587777565, rs869320745, rs587777709, rs606231305, rs672601318, rs727503779, rs727503780, rs730880296, rs786200953, rs375323253, rs794729666, rs886041037, rs886041038, rs796051887, rs796051888, rs749956849, rs199641706, rs775739391, rs869312886, rs869312857, rs879253731, rs879253732, rs201025290, rs770927552, rs878853275, rs878853276, rs878853277, rs878853278, rs1567506566, rs886037920, rs886037921, rs750610248, rs200044623, rs886043118, rs886060531, rs1057519074, rs1057519075, rs1057518744, rs1057519079, rs1057518745, rs1057518746, rs1057518747, rs782178147, rs55729925, rs1064795762, rs1064794957, rs1085307649, rs745463649, rs773694113, rs1192554889, rs779575307, rs1554051075, rs1554051067, rs1554051033, rs1554067182, rs1555167566, rs1555169270, rs1555908409, rs1555719963, rs1554064929, rs768091235, rs1404084330, rs144104577, rs1553238837, rs1553243550, rs1554020278, rs1554066684, rs762678772, rs570768621, rs1443126481, rs1553721236, rs121434258, rs888230251, rs1759915032, rs1759514836, rs138156467, rs1560914625, rs755373718, rs1561423197, rs1560938296, rs200803157, rs766555082, rs201543770, rs114951157, rs775578531, rs201128237, rs778624945, rs1563340753, rs1561772403, rs1484948342, rs777878144, rs1562364898, rs1561254290, rs1569296295, rs1568815169, rs1568822574, rs1571880832, rs934523851, rs1922072844, rs1266114717, rs137869655, rs869320689, rs1571880941, rs1580875488, rs1581303476, rs1448018291, rs1390410878, rs774803573, rs1591278347, rs1602300615, rs1601340933, rs757598952, rs1181595292, rs1408683294, rs1595843113, rs1595848141, rs779560450, rs1595816926, rs1601861196, rs1601861199, rs756541321, rs1594389703, rs1594390415, rs1581401865, rs1236009877, rs753213766, rs778993919, rs1602878106, rs141698985, rs1264504989, rs1580974401, rs2093571190, rs530286781, rs2086875746, rs2089298923, rs1206185362, rs1581573705, rs1596718225, rs1004337827, rs1573613529, rs1574636674, rs1574657735, rs1574657762, rs1574672718, rs1581573640, rs1553657429, rs200666300, rs1578735747, rs1578771211, rs1578793312, rs1578795536, rs1578809101, rs1578811073, rs1578811245, rs1171694504, rs1578971328, rs140800288, rs374333820, rs1584926133, rs1585040113, rs1584409386, rs1379376784, rs1586940273, rs1587143342, rs748910652, rs1592117677, rs758555433, rs1596712783, rs34019455, rs147766868, rs751386365, rs1600631294, rs1489114116, rs1057520578, rs1603007888, rs1603008329, rs1574450161, rs1578735709, rs1403833564, rs1580262965, rs570910902, rs1589866171, rs1578999313, rs1582635229, rs1582637044, rs1580851910, rs1750760771, rs745453685, rs1249197356, rs201840561, rs1940921909, rs1941410085, rs1941465194, rs1321690789, rs1302362911, rs1730552437, rs2052705192, rs1941856970	16395332
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	27602772
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
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

Unknown
Disease name	Disease term	dbSNP ID	References
Communicating hydrocephalus	Communicating Hydrocephalus
Congenital epicanthus	Congenital Epicanthus
Congenital exomphalos	Congenital exomphalos
Dwarfism	Dwarfism
Lymphopenia	Lymphopenia
Macroglossia	Macroglossia
Malabsorption syndrome	Malabsorption Syndrome
Micrognathism	Micrognathism
Motor delay	Clumsiness - motor delay
Sclerocystic ovaries	Sclerocystic Ovaries		21411543
Polycystic ovary syndrome	Polycystic Ovary Syndrome		21411543