FLI1 (Fli-1 proto-oncogene, ETS transcription factor)

Gene

• Entrez ID: 2313
• Gene name: Fli-1 proto-oncogene, ETS transcription factor
• Gene symbol: FLI1
• Synonyms: BDPLT21, EWSR2, FLI-1, SIC-1
• Chromosome: 11
• Chromosome location: 11q24.3
• Summary: This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sar

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs773148506	C>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1064797083	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064797084	A>G	Pathogenic	Missense variant, coding sequence variant
rs1064797085	ATTA>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1064797086	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1064797087	A>G	Pathogenic	Missense variant, coding sequence variant
rs1131691896	G>A	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004496	hsa-miR-145-5p	qRT-PCR, Luciferase reporter assay, Western blot	20382729
MIRT005349	hsa-miR-155-5p	Western blot	18950466
MIRT004496	hsa-miR-145-5p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	20737575
MIRT004496	hsa-miR-145-5p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	20737575
MIRT004496	hsa-miR-145-5p	Luciferase reporter assay, Western blot	21217773
MIRT005349	hsa-miR-155-5p	Proteomics	20584899
MIRT023015	hsa-miR-124-3p	Microarray	18668037
MIRT004496	hsa-miR-145-5p	Luciferase reporter assay, qRT-PCR, Western blot	27304058
MIRT004496	hsa-miR-145-5p	Luciferase reporter assay, qRT-PCR, Western blot	27304058
MIRT734748	hsa-miR-26a-1-3p	Luciferase reporter assay, Western blotting, qRT-PCR	33843426
MIRT737491	hsa-miR-26a-5p	Western blotting, qRT-PCR	33843426
MIRT998305	hsa-miR-1248	CLIP-seq
MIRT998306	hsa-miR-1262	CLIP-seq
MIRT998307	hsa-miR-145	CLIP-seq
MIRT998308	hsa-miR-216a	CLIP-seq
MIRT998309	hsa-miR-224	CLIP-seq
MIRT998310	hsa-miR-3124-3p	CLIP-seq
MIRT998311	hsa-miR-3164	CLIP-seq
MIRT998312	hsa-miR-371-5p	CLIP-seq
MIRT998313	hsa-miR-371b-5p	CLIP-seq
MIRT998314	hsa-miR-4259	CLIP-seq
MIRT998315	hsa-miR-4276	CLIP-seq
MIRT998316	hsa-miR-4420	CLIP-seq
MIRT998317	hsa-miR-4697-3p	CLIP-seq
MIRT998318	hsa-miR-4701-3p	CLIP-seq
MIRT998319	hsa-miR-570	CLIP-seq
MIRT998320	hsa-miR-587	CLIP-seq
MIRT998321	hsa-miR-668	CLIP-seq
MIRT998322	hsa-miR-2113	CLIP-seq
MIRT998323	hsa-miR-3125	CLIP-seq
MIRT998324	hsa-miR-3136-3p	CLIP-seq
MIRT998325	hsa-miR-3140-3p	CLIP-seq
MIRT998326	hsa-miR-375	CLIP-seq
MIRT998327	hsa-miR-3916	CLIP-seq
MIRT998328	hsa-miR-3927	CLIP-seq
MIRT998329	hsa-miR-4451	CLIP-seq
MIRT998330	hsa-miR-4641	CLIP-seq
MIRT998331	hsa-miR-4753-3p	CLIP-seq
MIRT998332	hsa-miR-548a-3p	CLIP-seq
MIRT998333	hsa-miR-548e	CLIP-seq
MIRT998334	hsa-miR-548f	CLIP-seq
MIRT998335	hsa-miR-548p	CLIP-seq
MIRT998336	hsa-miR-664	CLIP-seq
MIRT998337	hsa-miR-758	CLIP-seq
MIRT998338	hsa-miR-877	CLIP-seq
MIRT998339	hsa-miR-944	CLIP-seq
MIRT1995891	hsa-miR-1237	CLIP-seq
MIRT2229927	hsa-miR-3065-3p	CLIP-seq
MIRT2229928	hsa-miR-3909	CLIP-seq
MIRT2388015	hsa-miR-330-3p	CLIP-seq
MIRT2388016	hsa-miR-4422	CLIP-seq
MIRT2388017	hsa-miR-627	CLIP-seq
MIRT2465304	hsa-miR-200b	CLIP-seq
MIRT2465305	hsa-miR-200c	CLIP-seq
MIRT2465306	hsa-miR-374c	CLIP-seq
MIRT2465307	hsa-miR-429	CLIP-seq
MIRT2465308	hsa-miR-4318	CLIP-seq
MIRT2465309	hsa-miR-4677-3p	CLIP-seq
MIRT2465310	hsa-miR-4693-5p	CLIP-seq
MIRT2465311	hsa-miR-655	CLIP-seq
MIRT2465312	hsa-miR-892a	CLIP-seq
MIRT2533820	hsa-miR-146b-3p	CLIP-seq
MIRT2229927	hsa-miR-3065-3p	CLIP-seq
MIRT2229928	hsa-miR-3909	CLIP-seq
MIRT998332	hsa-miR-548a-3p	CLIP-seq
MIRT998333	hsa-miR-548e	CLIP-seq
MIRT998334	hsa-miR-548f	CLIP-seq
MIRT2533821	hsa-miR-548g	CLIP-seq
MIRT1995891	hsa-miR-1237	CLIP-seq
MIRT2681029	hsa-miR-217	CLIP-seq
MIRT2229927	hsa-miR-3065-3p	CLIP-seq
MIRT2229928	hsa-miR-3909	CLIP-seq
MIRT2681030	hsa-miR-4418	CLIP-seq
MIRT2681031	hsa-miR-4718	CLIP-seq
MIRT2681032	hsa-miR-4724-3p	CLIP-seq
MIRT2681033	hsa-miR-509-3-5p	CLIP-seq
MIRT2681034	hsa-miR-509-5p	CLIP-seq
MIRT998332	hsa-miR-548a-3p	CLIP-seq
MIRT998333	hsa-miR-548e	CLIP-seq
MIRT998334	hsa-miR-548f	CLIP-seq
MIRT2533821	hsa-miR-548g	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ELF1	Activation	19829305
ETS1	Activation	19829305
ETS2	Activation	19829305
FLI1	Activation	19829305
GATA1	Unknown	10523830
SPI1	Unknown	10523830

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
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	IEA
GO:0003677	Function	DNA binding	TAS	1522903
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	10891501
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	28255014
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007599	Process	Hemostasis	TAS	10891501
GO:0008015	Process	Blood circulation	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0035855	Process	Megakaryocyte development	IEA
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	26316623
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 193067
• HGNC: 3749
• e!Ensembl: ENSG00000151702

Protein

• UniProt ID: Q01543
• Protein name: Friend leukemia integration 1 transcription factor (Proto-oncogene Fli-1) (Transcription factor ERGB)
• Protein function: Sequence-specific transcriptional activator (PubMed:24100448, PubMed:26316623, PubMed:28255014). Recognizes the DNA sequence 5'-C[CA]GGAAGT-3'.
• PDB: 1FLI, 1X66, 2YTU, 5E8G, 5E8I, 5JVT, 6VG2, 6VG8, 6VGD, 9CP6, 9MWY, 9MX8, 9MX9, 9MXA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02198	SAM_PNT	114 → 198	Sterile alpha motif (SAM)/Pointed domain	Domain
  PF00178	Ets	282 → 361	Ets-domain	Domain

• Sequence:

  MDGTIKEALSVVSDDQSLFDSAYGAAAHLPKADMTASGSPDYGQPHKINPLPPQQEWINQ
  PVRVNVKREYDHMNGSRESPVDCSVSKCSKLVGGGESNPMNYNSYMDEKNGPPPPNMTTN
  ERRVIVPADPTLWTQEHVRQWLEWAIKEYSLMEIDTSFFQNMDGKELCKMNKEDFLRATT
  LYNTEVLLSHLSYLRESSLLAYNTTSHTDQSSRLSVKEDPSYDSVRRGAWGNNMNSGLNK
  SPPLGGAQTISKNTEQRPQPDPYQILGPTSSRLANPGSGQIQLWQFLLELLSDSANASCI
  TWEGTNGEFKMTDPDEVARRWGERKSKPNMNYDKLSRALRYYYDKNIMTKVHGKRYAYKF
  DFHGIAQALQPHPTESSMYKYPSDISYMPSYHAHQQKVNFVPPHPSSMPVTSSSFFGAAS
  QYWTSPTGGIYPNPNVPRHPNTHVPSHLGSYY

• Sequence length: 452

Pathways

KEGG:

Transcriptional misregulation in cancer

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
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
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019
Bleeding disorder	BLEEDING DISORDER, PLATELET-TYPE, 21	rs121918444, rs387906691, rs397514542, rs398122372, rs398122373, rs773148506, rs1064797083, rs1064797085, rs1064797087, rs761749948	28255014, 26316623, 24100448
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
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
Hypoplastic left heart syndrome	Hypoplastic Left Heart Syndrome	rs1554284604, rs1843006535
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Medulloblastoma	Medulloblastoma, Childhood Medulloblastoma, Adult Medulloblastoma, Desmoplastic Medulloblastoma, Melanotic medulloblastoma	rs1589970134, rs587776578, rs587776579, rs17847577, rs111033171, rs80359604, rs80358785, rs80358814, rs863224925, rs1555950011, rs1554231278, rs926177767, rs759412460, rs1564032829, rs761911009	19270706
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
Myopia	Myopia, Degenerative	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023	23049088
Precocious puberty	Precocious Puberty	rs879255238, rs879255239, rs879255240, rs1264639964, rs1566764505
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
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease name	Disease term	dbSNP ID	References
Annular pancreas	Annular pancreas
Anorexia	Anorexia
Aortic coarctation	Aortic coarctation
Aortic valve sclerosis	Aortic Valve Stenosis
Bipolar disorder	Bipolar Disorder
Brain neoplasms	Brain Neoplasms	rs1800720, rs587781720
Cardiovascular abnormalities	Cardiovascular Abnormalities
Cerebral atrophy	Cerebral atrophy
Clinodactyly	Clinodactyly of toe
Congenital coloboma of iris	Congenital coloboma of iris
Congenital epicanthus	Congenital Epicanthus
Congenital malrotation of intestine	Congenital malrotation of intestine
Corneal astigmatism	Regular astigmatism - corneal		30306274
Duodenal atresia	Duodenal atresia
Dwarfism	Dwarfism
Ectopic anus	Ectopic anus
Ectropion	Ectropion
Eczema	Eczema
Endometrial neoplasms	Uterine Neoplasms
Ewing sarcoma	Ewings sarcoma, Ewings sarcoma-primitive neuroectodermal tumor (PNET)		11772151, 16646077, 26214589, 8644855, 7506981
Extra-osseous ewing`s sarcoma	Extra-osseous Ewing`s sarcoma		11570916, 9072004, 18769338, 16517542
Extraskeletal ewing sarcoma	Extraskeletal Ewing sarcoma
Frontal bossing	Frontal bossing
Hydronephrosis	Hydronephrosis
Isolated delta-storage pool disease	Isolated delta-storage pool disease
Jacobsen syndrome	Jacobsen Distal 11q Deletion Syndrome, Jacobsen syndrome		31064749, 26285164
Major affective disorder	MAJOR AFFECTIVE DISORDER 2, MAJOR AFFECTIVE DISORDER 1, MAJOR AFFECTIVE DISORDER 4, MAJOR AFFECTIVE DISORDER 6, MAJOR AFFECTIVE DISORDER 7, MAJOR AFFECTIVE DISORDER 8, MAJOR AFFECTIVE DISORDER 9	rs1601436804
Medullomyoblastoma	Medullomyoblastoma		19270706
Microcornea	Microcornea
Multicystic renal dysplasia	Multicystic Dysplastic Kidney
Neck webbing	Neck webbing
Neoplasm of scrotum	Neoplasm of scrotum
Ovarian neoplasm	ovarian neoplasm
Pachygyria	Pachygyria
Pancreatic neoplasm	Pancreatic Neoplasm
Pancreatitis	Pancreatitis	rs61734659
Paris-trousseau thrombocytopenia	Paris-Trousseau Thrombocytopenia		7703487, 22775407
Peripheral primitive neuroectodermal tumor	Peripheral primitive neuroectodermal tumor
Proptosis	Exophthalmos
Ptosis	Blepharoptosis, Ptosis	rs139920573
Skeletal ewing sarcoma	Skeletal Ewing sarcoma
Spina bifida	Spina Bifida
Spinal cord neoplasms	Spinal Cord Neoplasms
Strabismus	Strabismus
Syndactyly of fingers	Syndactyly of fingers
Syndactyly of the toes	Syndactyly of the toes
Talipes	Talipes
Trigonocephaly	Trigonocephaly	rs281875280, rs184394424, rs200650442, rs762799389, rs556974765
Vitiligo	Vitiligo		27723757