ZNF469 (zinc finger protein 469)

Gene

• Entrez ID: 84627
• Gene name: Zinc finger protein 469
• Gene symbol: ZNF469
• Synonyms (NCBI Gene): BCS, BCS1, Zfp469
• Disease Acronyms (UniProt): BCS1
• Chromosome: 16
• Chromosome location: 16q24.2
• Summary: This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1525775	hsa-miR-15a	CLIP-seq
MIRT1525776	hsa-miR-15b	CLIP-seq
MIRT1525777	hsa-miR-16	CLIP-seq
MIRT1525778	hsa-miR-185	CLIP-seq
MIRT1525779	hsa-miR-195	CLIP-seq
MIRT1525780	hsa-miR-23a	CLIP-seq
MIRT1525781	hsa-miR-23b	CLIP-seq
MIRT1525782	hsa-miR-23c	CLIP-seq
MIRT1525783	hsa-miR-25	CLIP-seq
MIRT1525784	hsa-miR-29a	CLIP-seq
MIRT1525785	hsa-miR-29b	CLIP-seq
MIRT1525786	hsa-miR-29c	CLIP-seq
MIRT1525787	hsa-miR-3154	CLIP-seq
MIRT1525788	hsa-miR-32	CLIP-seq
MIRT1525789	hsa-miR-323-3p	CLIP-seq
MIRT1525790	hsa-miR-338-3p	CLIP-seq
MIRT1525791	hsa-miR-363	CLIP-seq
MIRT1525792	hsa-miR-367	CLIP-seq
MIRT1525793	hsa-miR-424	CLIP-seq
MIRT1525794	hsa-miR-4306	CLIP-seq
MIRT1525795	hsa-miR-451b	CLIP-seq
MIRT1525796	hsa-miR-4530	CLIP-seq
MIRT1525797	hsa-miR-4643	CLIP-seq
MIRT1525798	hsa-miR-4644	CLIP-seq
MIRT1525799	hsa-miR-466	CLIP-seq
MIRT1525800	hsa-miR-4696	CLIP-seq
MIRT1525801	hsa-miR-4742-3p	CLIP-seq
MIRT1525802	hsa-miR-4789-3p	CLIP-seq
MIRT1525803	hsa-miR-4802-5p	CLIP-seq
MIRT1525804	hsa-miR-497	CLIP-seq
MIRT1525805	hsa-miR-630	CLIP-seq
MIRT1525806	hsa-miR-671-5p	CLIP-seq
MIRT1525807	hsa-miR-759	CLIP-seq
MIRT1525808	hsa-miR-92a	CLIP-seq
MIRT1525809	hsa-miR-92b	CLIP-seq
MIRT2158903	hsa-miR-1275	CLIP-seq
MIRT2158904	hsa-miR-1292	CLIP-seq
MIRT2158905	hsa-miR-3663-3p	CLIP-seq
MIRT2158906	hsa-miR-4297	CLIP-seq
MIRT2158907	hsa-miR-4468	CLIP-seq
MIRT2158908	hsa-miR-4525	CLIP-seq
MIRT2158909	hsa-miR-4665-5p	CLIP-seq
MIRT2158910	hsa-miR-4723-5p	CLIP-seq
MIRT2158911	hsa-miR-625	CLIP-seq
MIRT2378303	hsa-miR-101	CLIP-seq
MIRT2378304	hsa-miR-1266	CLIP-seq
MIRT2378305	hsa-miR-1272	CLIP-seq
MIRT2378306	hsa-miR-1322	CLIP-seq
MIRT2378307	hsa-miR-144	CLIP-seq
MIRT2378308	hsa-miR-4518	CLIP-seq
MIRT2378309	hsa-miR-582-5p	CLIP-seq
MIRT2378310	hsa-miR-885-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 612078
• HGNC: 23216
• e!Ensembl: ENSG00000225614

Protein

• UniProt ID: Q96JG9
• Protein name: Zinc finger protein 469
• Protein function: May be involved in transcriptional regulation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	3310 → 3331	Zinc finger, C2H2 type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in cornea, sclera, skin fibroblasts and striated muscle. {ECO:0000269|PubMed:18452888}.
• Sequence:

  MPGERPRGAPPPTMTGDLQPRQVASSPGHPSQPPLEDNTPATRTTKGAREAGGQAQAMEL
  PEAQPRQARDGELKPPSLRGQAPSSTPGKRGSPQTPPGRSPLQAPSRLAGRAEGSPPQRY
  ILGIASSRTKPTLDETPENPQLEAAQLPEVDTPQGPGTGAPLRPGLPRTEAQPAAEELGF
  HRCFQEPPSSFTSTNYTSPSATPRPPAPGPPQSRGTSPLQPGSYPEYQASGADSWPPAAE
  NSFPGANFGVPPAEPEPIPKGSRPGGSPRGVSFQFPFPALHGASTKPFPADVAGHAFTNG
  PLVFAFHQPQGAWPEEAVGTGPAYPLPTQPAPSPLPCYQGQPGGLNRHSDLSGALSSPGA
  AHSAPRPFSDSLHKSLTKILPERPPSAQDGLGSTRGPPSSLPQRHFPGQAYRASGVDTSP
  GPPDTELAAPGPPPARLPQLWDPTAAPYPTPPGGPLAATRSMFFNGQPSPGQRLCLPQSA
  PLPWPQVLPTARPSPHGMEMLSRLPFPAGGPEWQGGSQGALGTAGKTPGPREKLPAVRSS
  QGGSPALFTYNGMTDPGAQPLFFGVAQPQVSPHGTPSLPPPRVVGASPSESPLPSPATNT
  AGSTCSSLSPMSSSPANPSSEESQLPGPLGPSAFFHPPTHPQETGSPFPSPEPPHSLPTH
  YQPEPAKAFPFPADGLGAEGAFQCLEETPFPHEGPEVGRGGLQGFPRAPPPYPTHHFSLS
  SASLDQLDVLLTCRQCDRNYSSLAAFLAHRQFCGLLLARAKDGHQRSPGPPGLPSPPAAP
  RVPADAHAGLLSHAKTFLLAGDAQAEGKDDPLRTGFLPSLAATPFPLPASDLDMEDDAKL
  DSLITEALNGMEYQSDNPEIDSSFIDVFADEEPSGPRGPSSGHPLKSKAGVTPESKAPPP
  LPAATPDPQTPRPGDRGCPARGRPKTRSLGLAPTEADAPSQGRQQRRGKQLKLFRKDLDS
  GGAAEGSGSGGGGRASGLRPRRNDGLGERPPPRPRRPRTQAPGSRADPAPRVPRAAALPE
  ETRSSRRRRLPPRKDPRKRKARGGAWGKELILKIVQQKNRLREYDFASESEEDEQPPPRG
  PGFRGRRGRGEKRKEVELTQGPREDEPQKPRKAARQEAGGDGAPANPEEPGGSRPGPGRS
  PQARGPSRSLETGAAAREGGPKCADRPSVAPKDPLQVPTNTETSEETRPSLDFPQEAKEP
  ETAEESAPDSTEFTEALRSPPAACAGEMGASPGLLIPEQPPPSRHDTGTPKPSGSLANTA
  PHGSSPTPGVGSLLGGPGGTQAPVSHNSKDPPARQPGEFLAPVANPSSTACPKPSVLSSK
  ISSFGCDPAGFNRDPLGVPVAKKGPQPYSSPHSELFLGPKDLAGCFLEELHPKPSARDAP
  PASSSCLCQDGEDAGSLEPQLPRSPPGTAETEPGRAASPPTLESSSLFPDLPVDRFDPPL
  YGSLSANRDSGLPFACADPPQKTVPSDPPYPSFLLLEEVSPMLPSHFPDLSGGKVLSKTC
  PPERTVVPGAAPSLPGKGSGCSVALMSHLSEDELEIQKLVTELESQLQRSKDTRGAPREL
  AEAESVGRVELGTGTEPPSQRRTCQATVPHEDTFSAADLTRVGESTAHREGAESAVATVE
  AVQGRPGGTWPCPASFHPGHAALLPCAQEDLVSGAPFSPRGANFHFQPVQKAGASKTGLC
  QAEGDSRPPQDVCLPEPSKQPGPQLDAGSLAKCSPDQELSFPKNKEAASSQESEDSLRLL
  PCEQRGGFLPEPGTADQPHRGAPAPEAFGSPAVHLAPDLAFQGDGAPPLDATWPFGASPS
  HAAQGHSAGRAGGHLHPTAGRPGFEGNEFAPAGASSLTAPRGREAWLVPVPSPACVSNTH
  PSRRSQDPALSPPIRQLQLPGPGVAKSKDGILGLQELTPAAQSPPRVNPSGLEGGTVEGG
  KVACGPAQGSPGGVQVTTLPAVAGHQLGLEADGHWGLLGQAEKTQGQGTANQLQPENGVS
  PGGTDNHASVNASPKTALTGPTEGAVLLEKCKGSRAAMSLQEEAEPTPSPPSPNRESLAL
  ALTAAHSRSGSEGRTPERASSPGLNKPLLATGDSPAPSVGDLAACAPSPTSAAHMPCSLG
  PLPREDPLTSPSRAQGGLGGQLPASPSCRDPPGPQQLLACSPAWAPLEEADGVQATTDTG
  AEDSPVAPPSLTTSPCDPKEALAGCLLQGEGSPLEDPSSWPPGSVSAVTCTHSGDTPKDS
  TLRIPEDSRKEKLWESPGRATSPPLAGAVSPSVAVRATGLSSTPTGDEAQAGRGLPGPDP
  QSRGAPPHTNPDRMPRGHSSYSPSNTARLGHREGQAVTAVPTEPPTLQGAGPDSPACLEG
  EMGTSSKEPEDPGTPETGRSGATKMPRVTCPSTGLGLGRTTAPSSTASDFQSDSPQSHRN
  ASHQTPQGDPLGPQDLKQRSRGYKKKPASTENGQWKGQAPHGPVTCEVCAASFRSGPGLS
  RHKARKHRPHPGAPAEPSPAALPAQQPLEPLAQKCQPPRKKSHRVSGKERPNHSRGDPSH
  VTQPPPAQGSKEVLRAPGSPHSQQLHPPSPTEHEVDVKTPASKPRPDQAREDELHPKQAE
  KREGRRWRREPTVDSPSHSEGKSNKKRGKLRGRRLREESILPVSADVISDGRGSRPSPAM
  ASYAASPSHCLSVEGGPEADGEQPPRLATLGPGVMEGAAETDQEALCAGETGAQKPPGDR
  MLCPGRMDGAALGEQPTGQKGASARGFWGPRETKALGVCKESGSEPAEDSSRAHSRSEEG
  VWEENTPPLGPLGFPETSSSPADSTTSSCLQGLPDNPDTQGGVQGPEGPTPDASGSSAKD
  PPSLFDDEVSFSQLFPPGGRLTRKRNPHVYGKRCEKPVLPLPTQPSFEEGGDPTLGPARL
  PTDLSDSSSLCLCHEDPWEDEDPAGLPESFLLDGFLNSRVPGIDPWAPGLSLWALEPSRE
  AGAEKLPSHCPEDDRPEAIPELHMVPAAWRGLEMPAPADDSSSSLGDVSPEPPSLERERC
  DGGLPGNTHLLPLRATDFEVLSTKFEMQDLCFLGPFEDPVGLPGPSFLDFEGTASSQGPQ
  SRRTEEAAGAGRAQGRGRPAKGRRASYKCKVCFQRFRSLGELDLHKLAHTPAPPPTCYMC
  VERRFGSRELLRGHLQERHAQSKAGPWACGMCLKEVADVWMYNEHLREHAVRFARRGQAR
  RSLGDLPGGLEGSSAVAHLLNSITEPAPKHHRGKRSAGKAAGSPGDPWGQEGEAKKDSPG
  ERAKPRARSTPSNPDGAATPDSASATALADAGSPGPPRTTPSPSPDPWAGGEPLLQATPV
  HEACKDPSRDCHHCGKRFPKPFKLQRHLAVHSPQRVYLCPRCPRVYPEHGELLAHLGGAH
  GLLERPELQHTPLYACELCATVMRIIKKSFACSSCNYTFAKKEQFDRHMNKHLRGGRQPF
  AFRGVRRPGAPGQKARALEGTLPSKRRRVAMPGSAPGPGEDRPPPRGSSPILSEGSLPAL
  LHLCSEVAPSTTKGWPETLERPVDPVTHPIRGCELPSNHQECPPPSLSPFPAALADGRGD
  CALDGALERPENEASPGSPGPLLQQALPLGASLPRPGARGQDAEGKRAPLVFSGKRRAPG
  ARGRCAPDHFQEDHLLQKEKEVSSSHMVSEGGPRGTFHKGSATKPAGCQSSSKDRSAAST
  PSKALKFPVHPRKAVGSLAPGELARGTENGMKPATPKAKPGPSSQGSGSPRPGTKTGGGS
  QPQPASGQLQSETATTPAKPSFPSRSPAPERLPARAQAKSCTKGPREAGEQGPHGSLGPK
  EKGESSTKRKKGQVPGPARSESVGSFGRAPSAPDKPPRTPRKQATPSRVLPTKPKPNSQN
  KPRPPPSEQRKAEPGHTQRKDRLGKAFPQGRPLLRPPKRGTAVHGAEPAEPHTHRTAEAQ
  SDLLSQLFGQRLTGFKIPLKKDASE

• Sequence length: 3925

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Brittle cornea syndrome	Brittle cornea syndrome	rs1597210953, rs2142314304, rs387907062, rs387907063, rs387907110, rs1267369024, rs387907111, rs766853150, rs1579259095, rs764139968, rs886044697, rs1555519050
Connective tissue disease	Connective Tissue Diseases	rs5742905, rs80338688, rs80356506, rs104894800, rs104894948, rs28931614, rs121913482, rs28933068, rs121913483, rs137854464, rs121912870, rs387906980, rs587777352, rs527236145, rs189754995, rs730880214, rs794728188, rs863223852, rs745672741, rs763514968, rs1064793914, rs1085307608, rs1131691804, rs1555399144, rs1554787779, rs1555167139, rs1939205327	23680354
Corneal dystrophy	Corneal dystrophy	rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Dentinogenesis imperfecta	Dentinogenesis Imperfecta	rs121912985, rs1560477489, rs121912987, rs121912989, rs1560480632, rs67707918, rs66883877
Ehlers-danlos syndrome	Ehlers-Danlos syndrome 6B	rs121917817, rs121917818, rs28937869, rs764070148, rs144556766, rs121913550, rs121913552, rs80338764, rs121912933, rs786205103, rs786205104, rs121912930, rs397509369, rs113485686, rs121912914, rs397509370, rs587779443, rs869312034, rs397509371, rs121912927, rs121912915, rs121912928, rs397509372, rs397509373, rs397509374, rs121912916, rs121912917, rs121912918, rs112456072, rs387906557, rs397509375, rs121912920, rs397509376, rs121912921, rs121912922, rs121912923, rs121912924, rs121912925, rs121912926, rs1553507557, rs72656357, rs67398234, rs66820119, rs72656364, rs72656355, rs67162110, rs72659324, rs72645347, rs67828806, rs397509377, rs387906850, rs766853150, rs72656387, rs397514721, rs533071750, rs267599120, rs398122361, rs587779416, rs587779417, rs587779418, rs587779419, rs587779420, rs553203474, rs587779421, rs587779422, rs587779423, rs587779424, rs587779425, rs587779426, rs587779427, rs587779428, rs587779429, rs587779430, rs587779431, rs587779432, rs587779433, rs587779434, rs587779435, rs587779436, rs587779437, rs587779438, rs587779439, rs587779440, rs587779441, rs587779442, rs121912919, rs587779444, rs587779445, rs587779446, rs587779447, rs587779448, rs587779449, rs587779450, rs587779451, rs587779452, rs587779453, rs587779454, rs587779455, rs587779456, rs587779457, rs587779458, rs587779459, rs587779460, rs587779461, rs587779462, rs587779463, rs587779464, rs587779465, rs587779466, rs121912913, rs587779467, rs587779468, rs587779469, rs587779470, rs587779471, rs587779472, rs587779473, rs587779474, rs587779475, rs587779476, rs587779477, rs587779478, rs587779479, rs587779480, rs587779481, rs587779482, rs587779483, rs587779484, rs587779485, rs587779486, rs587779488, rs587779489, rs587779490, rs587779491, rs587779492, rs587779493, rs587779494, rs587779495, rs587779496, rs587779497, rs587779498, rs587779499, rs587779500, rs587779501, rs587779502, rs587779503, rs587779504, rs587779505, rs587779506, rs587779507, rs587779508, rs587779509, rs587779510, rs587779511, rs587779512, rs587779513, rs587779514, rs587779515, rs587779516, rs587779517, rs587779518, rs587779519, rs587779520, rs587779521, rs587779522, rs587779523, rs587779524, rs587779525, rs587779526, rs1559053784, rs587779527, rs587779528, rs587779529, rs587779530, rs587779531, rs587779532, rs587779533, rs587779534, rs587779535, rs587779536, rs587779537, rs587779539, rs587779540, rs587779541, rs587779542, rs587779543, rs587779544, rs587779545, rs587779546, rs587779547, rs587779548, rs587779549, rs587779550, rs587779551, rs587779552, rs587779553, rs587779554, rs587779555, rs587779556, rs587779557, rs587779558, rs587779559, rs587779560, rs587779561, rs587779562, rs587779563, rs587779564, rs587779566, rs587779567, rs587779568, rs587779569, rs587779570, rs587779571, rs587779572, rs587779573, rs587779574, rs587779575, rs587779576, rs587779577, rs587779578, rs587779579, rs587779580, rs587779581, rs587779582, rs587779583, rs587779584, rs587779586, rs587779587, rs587779588, rs587779589, rs587779590, rs587779591, rs587779592, rs587779593, rs587779594, rs587779595, rs587779596, rs587779597, rs587779598, rs587779599, rs587779600, rs587779601, rs587779602, rs1559061242, rs587779603, rs587779604, rs587779605, rs587779606, rs587779607, rs587779608, rs587779609, rs587779610, rs1559057346, rs587779611, rs587779612, rs587779613, rs587779614, rs587779615, rs587779616, rs587779617, rs587779618, rs1559055162, rs587779619, rs587779620, rs587779621, rs587779622, rs587779623, rs587779624, rs587779625, rs587779626, rs587779627, rs587779628, rs111505097, rs587779629, rs786200946, rs587779630, rs587779631, rs587779632, rs113871730, rs587779633, rs587779634, rs587779635, rs587779637, rs587779638, rs587779639, rs587779640, rs587779641, rs587779642, rs587779643, rs587779644, rs587779645, rs587779646, rs587779647, rs587779648, rs587779649, rs587779650, rs587779651, rs587779652, rs111929073, rs587779653, rs587779654, rs587779655, rs587779656, rs587779657, rs587779658, rs587779659, rs587779660, rs587779661, rs587779662, rs587779663, rs1553509630, rs587779664, rs587779665, rs587779666, rs587779667, rs587779668, rs587779669, rs587779670, rs587779671, rs112371422, rs587779672, rs587779673, rs587779674, rs587779675, rs587779676, rs587779677, rs587779678, rs587779679, rs587779680, rs587779681, rs587779682, rs587779683, rs587779684, rs587779685, rs587779686, rs587779687, rs587779688, rs587779689, rs587779690, rs587779691, rs587779692, rs587779693, rs587779694, rs587779695, rs587779696, rs587779697, rs587779698, rs587779699, rs587779700, rs587779701, rs587779702, rs587779703, rs587779704, rs1553508025, rs587779705, rs587779706, rs587779707, rs587779708, rs587779709, rs587779710, rs587779711, rs587779712, rs587779713, rs587779714, rs587779715, rs587779716, rs587779717, rs587779718, rs587779719, rs587779720, rs587779721, rs587779722, rs587779723, rs587777682, rs794728040, rs794728044, rs794728054, rs794728060, rs863223491, rs375845310, rs878853651, rs187063864, rs886038952, rs886038892, rs72656370, rs67507747, rs886042045, rs886042173, rs1057518075, rs1057518372, rs749890642, rs74315111, rs1057518653, rs1057519596, rs1057521106, rs1060500194, rs587779487, rs1060500199, rs1060500187, rs1060500200, rs1060500204, rs1060500203, rs1060500193, rs72658185, rs1114167416, rs67865220, rs72648326, rs72645321, rs72667036, rs1114167408, rs1085307896, rs1131691996, rs1553509397, rs1554227382, rs1554796176, rs1553509187, rs1553507265, rs1057524653, rs1553509744, rs1553507274, rs1553509430, rs72656356, rs786205100, rs1213427451, rs1555572239, rs1554781678, rs1553508338, rs72656363, rs1553507863, rs1553508039, rs1553514506, rs1553512393, rs1553513971, rs1553515517, rs1393544920, rs1553510000, rs72658129, rs1553151294, rs1553507432, rs1553507614, rs1553509208, rs1553509391, rs1553508238, rs1410254723, rs1179967153, rs1553509726, rs1553508473, rs1559058970, rs1559061674, rs112532745, rs1559052551, rs375737772, rs1559061706, rs1559056621, rs1559052609, rs1559059873, rs1559060412, rs1559061954, rs1559063681, rs1576465155, rs1559058482, rs1234344050, rs1564481053, rs1559054653, rs1173194734, rs1562906013, rs1439043436, rs1576463632, rs1576463663, rs772827388, rs1576467133, rs755528878, rs1576468160, rs1576468332, rs1576472890, rs1576474929, rs776640704, rs1576463100, rs1576468385, rs1576473641, rs201314784, rs1588562135, rs1576468562, rs1576471840, rs1333421028, rs1584318648, rs1584318956, rs1584319045, rs1584325552, rs1584329740, rs1588597744, rs1576467391, rs1588477255, rs1588621711, rs1688258933, rs1688305296, rs1688322272, rs1688384382, rs1688417659, rs1688529460, rs1688561706, rs1688586251, rs1685782021, rs1686209873, rs1553506938	23680354, 19661234, 20938016, 18452888
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Keratoconus	Keratoconus, Keratoconus 1	rs273585637, rs273585632, rs273585616, rs273585618, rs281865144, rs281865150, rs1553500862, rs756938019
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mitral valve prolapse	Mitral Valve Prolapse Syndrome	rs768737101
Myopia	Myopia, Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Brittle Cornea Syndrome	brittle cornea syndrome 1, brittle cornea syndrome			GenCC
Carcinoma	Carcinoma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Aortic Aneurysm	Associate	39769491
Aortic Dissection	Associate	39769491
Brittle cornea syndrome 1	Associate	20485516, 21664999, 23680354, 25564447, 26560304, 29228253, 31107761, 32671420, 39769491
Corneal Perforation	Associate	31107761
Disease	Associate	37884635
Ehlers Danlos Syndrome	Associate	33737726
Esophageal Neoplasms	Associate	33543230
Eye Diseases	Associate	37884635
Glaucoma Open Angle	Associate	25669751
Iliac Aneurysm	Associate	39769491
Intracranial Aneurysm	Associate	39769491
Joint Instability	Associate	25564447
Keratoconus	Associate	24895405, 25564447, 26040312, 26806788, 28207827, 28484309, 31107761, 38267912
Mental Disorders	Associate	37884635
Myopia	Associate	29346494, 37884635
Neoplasms	Associate	39238637
Nonsyndromic Deafness	Associate	29346494