GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

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GDF6 (growth differentiation factor 6)

Gene

392255

Growth differentiation factor 6

GDF6

BMP-13, BMP13, CDMP2, KFM, KFS, KFS1, KFSL, SGM1, SYNS4

8q22.1

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate

Show/Hide all(12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs63751220	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs121909352	G>T	Likely-benign, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121909353	T>C	Likely-benign, pathogenic	Missense variant, coding sequence variant
rs121909354	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs121909355	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs121909356	G>T	Pathogenic	Missense variant, coding sequence variant
rs140782427	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs387906794	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs397514725	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs878853102	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1401531865	C>G,R	Pathogenic	Missense variant, coding sequence variant
rs1554571213	A>T	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(54)

miRTarBase ID	miRNA	Experiments	Reference
MIRT724186	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT724185	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT724184	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT724183	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT724182	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT724181	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT724180	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT724179	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT724178	hsa-miR-4279	HITS-CLIP	19536157
MIRT681713	hsa-miR-589-3p	HITS-CLIP	23706177
MIRT681712	hsa-miR-570-3p	HITS-CLIP	23706177
MIRT681712	hsa-miR-570-3p	PAR-CLIP	26701625
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681713	hsa-miR-589-3p	PAR-CLIP	27292025
MIRT681713	hsa-miR-589-3p	PAR-CLIP	27292025
MIRT681713	hsa-miR-589-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	HITS-CLIP	27418678
MIRT735642	hsa-miR-98-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR, In situ hybridization	32045359
MIRT724186	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT724185	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT724184	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT724183	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT724182	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT724181	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT724180	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT724179	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT724178	hsa-miR-4279	HITS-CLIP	19536157
MIRT681713	hsa-miR-589-3p	HITS-CLIP	23706177
MIRT681712	hsa-miR-570-3p	HITS-CLIP	23706177
MIRT1015745	hsa-miR-361-3p	CLIP-seq
MIRT1015746	hsa-miR-3620	CLIP-seq
MIRT1015747	hsa-miR-4738-5p	CLIP-seq
MIRT1015748	hsa-miR-570	CLIP-seq
MIRT2000730	hsa-miR-1267	CLIP-seq
MIRT2000731	hsa-miR-4275	CLIP-seq
MIRT2000732	hsa-miR-4287	CLIP-seq
MIRT2000733	hsa-miR-4652-3p	CLIP-seq
MIRT2000734	hsa-miR-4685-3p	CLIP-seq
MIRT2000735	hsa-miR-4778-5p	CLIP-seq
MIRT2000736	hsa-miR-488	CLIP-seq
MIRT2000737	hsa-miR-653	CLIP-seq
MIRT2234210	hsa-miR-3183	CLIP-seq
MIRT2234211	hsa-miR-4723-3p	CLIP-seq
MIRT2450164	hsa-miR-1224-3p	CLIP-seq
MIRT2450165	hsa-miR-296-5p	CLIP-seq
MIRT2234210	hsa-miR-3183	CLIP-seq
MIRT2450166	hsa-miR-3184	CLIP-seq
MIRT2450167	hsa-miR-423-5p	CLIP-seq
MIRT2450168	hsa-miR-4688	CLIP-seq
MIRT2234211	hsa-miR-4723-3p	CLIP-seq

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005125	Function	Cytokine activity	IBA	21873635
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0006915	Process	Apoptotic process	ISS
GO:0007275	Process	Multicellular organism development	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0010862	Process	Positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	21873635
GO:0010862	Process	Positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	16049014
GO:0030509	Process	BMP signaling pathway	IDA	16049014
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IMP	26643732
GO:0032924	Process	Activin receptor signaling pathway	IDA	16049014
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	16049014
GO:0060389	Process	Pathway-restricted SMAD protein phosphorylation	IDA	16049014
GO:0060395	Process	SMAD protein signal transduction	IBA	21873635
GO:0060395	Process	SMAD protein signal transduction	IMP	26643732
GO:0060395	Process	SMAD protein signal transduction	ISS
GO:1900745	Process	Positive regulation of p38MAPK cascade	ISS
GO:1990009	Process	Retinal cell apoptotic process	ISS

MIM	HGNC	e!Ensembl
601147	4221	ENSG00000156466

Protein

UniProt ID

Q6KF10

Protein name

Growth/differentiation factor 6 (GDF-6) (Bone morphogenetic protein 13) (BMP-13) (Growth/differentiation factor 16)

Protein function

Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional information in the retina and con

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00688	TGFb_propeptide	64 → 281	TGF-beta propeptide	Family
PF00019	TGF_beta	353 → 454	Transforming growth factor beta like domain	Domain

Sequence

MDTPRVLLSAVFLISFLWDLPGFQQASISSSSSSAELGSTKGMRSRKEGKMQRAPRDSDA
GREGQEPQPRPQDEPRAQQPRAQEPPGRGPRVVPHEYMLSIYRTYSIAEKLGINASFFQS
SKSANTITSFVDRGLDDLSHTPLRRQKYLFDVSMLSDKEELVGAELRLFRQAPSAPWGPP
AGPLHVQLFPCLSPLLLDARTLDPQGAPPAGWEVFDVWQGLRHQPWKQLCLELRAAWGEL
DAGEAEARARGPQQPPPPDLRSLGFGRRVRPPQERALLVVFTRSQRKNLFAEMREQLGSA
EAAGPGAGAEGSWPPPSGAPDARPWLPSPGRRRRRTAFASRHGKRHGKKSRLRCSKKPLH
VNFKELGWDDWIIAPLEYEAYHCEGVCDFPLRSHLEPTNHAIIQTLMNSMDPGSTPPSCC
VPTKLTPISILYIDAGNNVVYKQYEDMVVESCGCR

Sequence length

455

Interactions

View interactions

	KEGG
	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway

Associated diseases

Show/Hide Causal Diseases (14)

Causal
Disease name	Disease term	dbSNP ID	References
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
Microphthalmia with coloboma	Colobomatous microphthalmia, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6	rs387906910, rs587776950, rs794726861, rs794726862, rs755000701, rs1243762658, rs919662130, rs753315599, rs2091986259	17236135
Congenital ocular coloboma	Congenital ocular coloboma (disorder)	rs587778875, rs587777249, rs767611891, rs2091986259, rs2091987023, rs2091988799
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
Keratoconus	Keratoconus	rs273585637, rs273585632, rs273585616, rs273585618, rs281865144, rs281865150, rs1553500862, rs756938019
Klippel feil syndrome	Klippel-Feil Syndrome, KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT	rs1567750527, rs772798486, rs713993044, rs864309489, rs1569172839	18425797, 19129173, 18425797, 17236135, 3065353, 23307924
Leber congenital amaurosis	Leber Congenital Amaurosis, LEBER CONGENITAL AMAUROSIS 17	rs386834252, rs386834253, rs121918165, rs62635288, rs281865192, rs137852833, rs137852834, rs137852835, rs2137919146, rs267606719, rs80044281, rs386834241, rs75895925, rs386834243, rs750962965, rs28940313, rs386834261, rs104894470, rs28940314, rs104894471, rs104894474, rs104894475, rs104894476, rs28940315, rs104894472, rs104894473, rs387906272, rs121434337, rs202126574, rs137853124, rs397515360, rs1560870755, rs62637014, rs62637016, rs62635656, rs62635654, rs28939720, rs62635659, rs137853136, rs137853137, rs62636275, rs281865175, rs62638214, rs121908449, rs121909074, rs121909075, rs1581734819, rs104894673, rs61750420, rs61749755, rs61750172, rs61752895, rs61752871, rs121917744, rs61752909, rs121917745, rs386834260, rs121912554, rs781781440, rs62653011, rs61752904, rs62636300, rs387906835, rs387906836, rs387906837, rs2147483647, rs387906858, rs143607153, rs387907009, rs140287375, rs387907290, rs142968179, rs150726175, rs387907291, rs368062092, rs387907293, rs387907294, rs62645748, rs386834152, rs386834153, rs386834157, rs386834158, rs386834159, rs1401531865, rs386834239, rs61748449, rs62637010, rs142326926, rs267598278, rs398124354, rs61749676, rs61749679, rs61749683, rs63749078, rs61749758, rs61749759, rs61750161, rs281865410, rs61750168, rs61750179, rs61750183, rs61750184, rs61750185, rs61750187, rs281865408, rs61750188, rs61750189, rs281865411, rs61749668, rs61750194, rs63340060, rs61749670, rs281865409, rs63749076, rs61749671, rs61749663, rs61749673, rs61749674, rs281865520, rs61751276, rs61751281, rs62636295, rs62636298, rs62636299, rs61751282, rs61752865, rs62637006, rs62637007, rs62653015, rs281865292, rs61752866, rs61752873, rs62642583, rs62642584, rs61752875, rs61752877, rs61752880, rs61752882, rs61752883, rs61752884, rs61752888, rs61752891, rs61751277, rs61752896, rs61752899, rs281865289, rs61752903, rs61751279, rs61752905, rs61752906, rs61752908, rs61749423, rs61748446, rs281865515, rs281865517, rs62636511, rs281865168, rs281865171, rs281865166, rs140808549, rs62637009, rs61751266, rs61751268, rs61751271, rs61751265, rs62640580, rs62640570, rs62640581, rs62640574, rs62638179, rs281865187, rs62638180, rs281865189, rs62645750, rs62645754, rs62645746, rs62636264, rs62636266, rs62645755, rs62636267, rs62635653, rs62636269, rs62636270, rs62636271, rs62636273, rs281865173, rs62636274, rs62636276, rs62636278, rs281865174, rs62635649, rs62645752, rs79436363, rs527236099, rs114342808, rs527236126, rs587783009, rs587783010, rs535922252, rs587783012, rs587783013, rs587783015, rs587783016, rs587783017, rs587783018, rs587783019, rs773372519, rs786204787, rs762631020, rs786205148, rs786205149, rs786205150, rs748902766, rs767745816, rs786205550, rs786205623, rs786205630, rs863223341, rs766608755, rs192003551, rs370119681, rs758329611, rs797044761, rs794727952, rs794729650, rs863224862, rs863224884, rs771454167, rs756302731, rs749439750, rs780624853, rs863225189, rs727503855, rs758550675, rs751218423, rs869312175, rs869320631, rs767648174, rs878853362, rs747835249, rs371496675, rs878853360, rs878853392, rs878853341, rs878853338, rs878853339, rs878853385, rs764256655, rs371526758, rs886039871, rs886039911, rs780225183, rs886042220, rs886042360, rs115352681, rs201405662, rs760915898, rs886043587, rs183261547, rs116471343, rs61752902, rs1057518122, rs1057518922, rs1057518949, rs775796581, rs368088025, rs1057519136, rs1057520152, rs752175052, rs62636260, rs777464278, rs1064797182, rs1064797304, rs1085307972, rs62645747, rs1420672586, rs1553152989, rs794727166, rs1554347012, rs1555220638, rs1555222073, rs371609982, rs768028061, rs1556313552, rs1556313557, rs1555635550, rs369775002, rs145282040, rs1553261468, rs773914330, rs1553263218, rs757740068, rs199683808, rs1553128102, rs775978677, rs747653875, rs1553722736, rs766143193, rs866395428, rs781670422, rs776880045, rs565837539, rs1555302710, rs780667159, rs1555303320, rs1555635925, rs1271498710, rs763890649, rs1553260321, rs767030473, rs1191496583, rs778606847, rs766670248, rs758593134, rs1555635668, rs201587670, rs754768875, rs775935766, rs1349849938, rs374268850, rs1554786803, rs1554786802, rs1555370458, rs1369768287, rs760540562, rs751342895, rs1429786931, rs753697847, rs564754426, rs143745703, rs771266705, rs776698746, rs1553153243, rs1555302200, rs1192112844, rs776645403, rs757609119, rs1239043055, rs1327062642, rs192907397, rs121918844, rs1429137932, rs116733939, rs1395763356, rs1226324483, rs554396590, rs776289402, rs574936510, rs750889782, rs1569531639, rs776591659, rs747393487, rs764309755, rs772170760, rs75459701, rs1264794214, rs757823463, rs759940113, rs1237424465, rs1558057153, rs1558127317, rs745422941, rs988133284, rs1566674809, rs771116776, rs1006935198, rs61750171, rs768390959, rs1568626289, rs778627080, rs752263228, rs971610277, rs1567958644, rs1557595199, rs1030149008, rs777069665, rs1208703297, rs139305531, rs1592833648, rs150412614, rs759662695, rs372066126, rs781705903, rs1592726020, rs368489658, rs758001091, rs1598146589, rs1598149659, rs968692633, rs202240410, rs1597331616, rs748798324, rs1571848688, rs143511261, rs763324776, rs774130993, rs1268307330, rs781035395, rs747138345, rs749331348, rs1468942944, rs760415289, rs1290241933, rs759408031, rs1594867551, rs200387832, rs1598144694, rs746351112, rs1594865068, rs768255532, rs1290420698, rs1300041533, rs747512450, rs567890014, rs1571848166, rs1571848855, rs1571878277, rs1571523319, rs1571525145, rs745348555, rs1571557864, rs1450635782, rs1193631220, rs1571158755, rs1571164534, rs752058510, rs527236079, rs373680665, rs745704627, rs773968778, rs1581736024, rs1178243254, rs376500610, rs61751270, rs1594865036, rs749038454, rs1594865434, rs945734402, rs1599991538, rs1599991611, rs766631462, rs745871149, rs140257538, rs1182277140, rs1769845495, rs1571848744, rs768905244, rs1571540258, rs1571544281, rs1571172233, rs1581736099, rs1581740762, rs1581742633, rs1581743256, rs765473119, rs1588830568, rs1592784618, rs1420750126, rs1594867516, rs1468041544, rs775364986, rs1598149187, rs781725943, rs890453675, rs1581735836, rs1602071524, rs772794324, rs114630940, rs1641970512, rs751644763, rs748559081, rs1286660951, rs2040637111, rs752193525, rs45502896, rs1594202505, rs1594203796, rs1325103400, rs1594280740, rs1594180177, rs1592807018, rs201070350, rs768445391, rs1581742615, rs1594865064, rs778731851, rs1660503192, rs1660516364, rs369184026, rs768713412, rs1665487563, rs1667269806, rs34627040, rs375110174, rs748972748, rs1240302846, rs1766524422, rs748370008, rs1248460033, rs1033594764, rs1186821575, rs770126103, rs745741473, rs761231974, rs752242512, rs116649873, rs2038232008, rs2038232911, rs2038317129, rs2077123571, rs2077123914, rs374255033, rs781331005, rs2039659434, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs766411096, rs1664671663, rs1558138741, rs760544654, rs562037932, rs1444234037, rs771336246, rs751589956, rs1331834680, rs762633090, rs747257567, rs761167763, rs1163040913, rs2038196341, rs760813820, rs751589863, rs760287363, rs1645823028, rs1645824187, rs774309607, rs1015895028, rs1343680080, rs1660517678, rs765676754, rs1366609497, rs1413885352, rs201883601	25685757, 23307924, 23307924
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
Microphthalmia	MICROPHTHALMIA, ISOLATED 4 (disorder)	rs587776595, rs121908189, rs587776596, rs104894663, rs121909127, rs1603388837, rs121909128, rs121912543, rs121912545, rs730882064, rs387907095, rs387907096, rs397514652, rs397514653, rs78931658, rs730882141, rs150232843, rs730882143, rs730882158, rs730882159, rs730882160, rs730882161, rs730882162, rs786205471, rs786205472, rs797045054, rs869025268, rs755799430, rs1555037395, rs770341402, rs1245503127, rs749156010, rs376898612, rs750894392, rs1359404443, rs1422497202, rs374823079, rs1565295426, rs145719998, rs1166512859, rs752288097, rs1226217440, rs1243587288	19129173, 24033328, 17236135, 23307924
Microphthalmos	Microphthalmos, Bilateral microphthalmos	rs794726862, rs1329285216
Multiple synostoses syndrome	MULTIPLE SYNOSTOSES SYNDROME 4	rs74315386, rs74315388, rs121909347, rs121918322, rs1555223925, rs1554571213	26643732, 18425797, 29130651
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (17)

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital cerebral hernia	Congenital cerebral hernia
Congenital torticollis	Congenital torticollis
Ectopic anus	Ectopic anus
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis
Hypoplasia of optic disc	Hypoplasia of optic disc
Impaired cognition	Impaired cognition
Imperforate anus	Anus, Imperforate
Isolated klippel-feil syndrome	Isolated Klippel-Feil syndrome
Malformation of cortical development	Malformations of Cortical Development, Group II
Microtia	Congenital small ears
Neck webbing	Neck webbing
Otosclerosis	Otosclerosis
Sacral agenesis	Sacral agenesis		3065353
Spina bifida	Spina Bifida
Sprengel deformity	Sprengel deformity
Talipes transversoplanus	Talipes transversoplanus
Tarsal coalition	Tarsal Coalition

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