ZIC2 (Zic family zinc finger 2)

Gene

• Entrez ID: 7546
• Gene name: Zic family zinc finger 2
• Gene symbol: ZIC2
• Synonyms: HPE5
• Chromosome: 13
• Chromosome location: 13q32.3
• Summary: This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Expansion of an alanine repeat in the C-terminus of

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs397515364	->C	Pathogenic	Coding sequence variant, frameshift variant
rs397515365	GAGAACC>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515499	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515500	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs753776168	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs756225250	AGCGGCGGCGGCGGCTGCGGCGGCGGCGGC>-,AGCGGCGGCGGCGGCTGCGGCGGCGGCGGCAGCGGCGGCGGCGGCTGCGGCGGCGGCGGC	Pathogenic	Coding sequence variant, inframe deletion, inframe insertion
rs760662121	T>A	Likely-pathogenic	3 prime UTR variant
rs794729641	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886041583	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1060499562	TG>-	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1060499563	C>T	Pathogenic	Coding sequence variant, stop gained
rs1060499564	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794138	CCTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1456001894	GG>-,G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555332212	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555332225	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555332361	A>T	Pathogenic	Splice acceptor variant
rs1555332362	CGTTCCAGTGTGAGTTTGAGGGCTGCGACCGGCGCTTCGCCAACAGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566405714	AGCACA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1594290376	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1594290658	GGCGGGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1594291863	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1594291868	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1594292057	G>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048739	hsa-miR-93-5p	CLASH	23622248
MIRT044573	hsa-miR-320a	CLASH	23622248
MIRT618798	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT618797	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT618796	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT618795	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT618794	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT618793	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT618792	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT618791	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT545898	hsa-miR-7844-5p	PAR-CLIP	20371350
MIRT067728	hsa-miR-4311	PAR-CLIP	20371350
MIRT545898	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT067728	hsa-miR-4311	PAR-CLIP	21572407
MIRT067729	hsa-miR-6884-3p	PAR-CLIP	21572407
MIRT545898	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT067728	hsa-miR-4311	PAR-CLIP	21572407
MIRT737356	hsa-miR-873-3p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), RNA-seq	32555352
MIRT618798	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT618797	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT618796	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT618795	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT618794	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT618793	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT618792	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT618791	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT545898	hsa-miR-7844-5p	PAR-CLIP	20371350
MIRT067728	hsa-miR-4311	PAR-CLIP	20371350
MIRT545898	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT067728	hsa-miR-4311	PAR-CLIP	21572407
MIRT067729	hsa-miR-6884-3p	PAR-CLIP	21572407
MIRT545898	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT067728	hsa-miR-4311	PAR-CLIP	21572407
MIRT756349	hsa-miR-129-5p	Western blotting, qRT-PCR	37294527
MIRT1513337	hsa-miR-1203	CLIP-seq
MIRT1513338	hsa-miR-1271	CLIP-seq
MIRT1513339	hsa-miR-1284	CLIP-seq
MIRT1513340	hsa-miR-1289	CLIP-seq
MIRT1513341	hsa-miR-1292	CLIP-seq
MIRT1513342	hsa-miR-145	CLIP-seq
MIRT1513343	hsa-miR-181a	CLIP-seq
MIRT1513344	hsa-miR-181b	CLIP-seq
MIRT1513345	hsa-miR-181c	CLIP-seq
MIRT1513346	hsa-miR-181d	CLIP-seq
MIRT1513347	hsa-miR-182	CLIP-seq
MIRT1513348	hsa-miR-1908	CLIP-seq
MIRT1513349	hsa-miR-2909	CLIP-seq
MIRT1513350	hsa-miR-297	CLIP-seq
MIRT1513351	hsa-miR-30a	CLIP-seq
MIRT1513352	hsa-miR-30b	CLIP-seq
MIRT1513353	hsa-miR-30c	CLIP-seq
MIRT1513354	hsa-miR-30d	CLIP-seq
MIRT1513355	hsa-miR-30e	CLIP-seq
MIRT1513356	hsa-miR-3115	CLIP-seq
MIRT1513357	hsa-miR-3148	CLIP-seq
MIRT1513358	hsa-miR-3150b-3p	CLIP-seq
MIRT1513359	hsa-miR-3154	CLIP-seq
MIRT1513360	hsa-miR-3162-5p	CLIP-seq
MIRT1513361	hsa-miR-3173-3p	CLIP-seq
MIRT1513362	hsa-miR-3177-3p	CLIP-seq
MIRT1513363	hsa-miR-3179	CLIP-seq
MIRT1513364	hsa-miR-3180	CLIP-seq
MIRT1513365	hsa-miR-3180-3p	CLIP-seq
MIRT1513366	hsa-miR-3180-5p	CLIP-seq
MIRT1513367	hsa-miR-3185	CLIP-seq
MIRT1513368	hsa-miR-3196	CLIP-seq
MIRT1513369	hsa-miR-3202	CLIP-seq
MIRT1513370	hsa-miR-323-3p	CLIP-seq
MIRT1513371	hsa-miR-323-5p	CLIP-seq
MIRT1513372	hsa-miR-337-5p	CLIP-seq
MIRT1513373	hsa-miR-340	CLIP-seq
MIRT1513374	hsa-miR-361-3p	CLIP-seq
MIRT1513375	hsa-miR-3650	CLIP-seq
MIRT1513376	hsa-miR-3653	CLIP-seq
MIRT1513377	hsa-miR-3658	CLIP-seq
MIRT1513378	hsa-miR-3671	CLIP-seq
MIRT1513379	hsa-miR-3679-3p	CLIP-seq
MIRT1513380	hsa-miR-3692	CLIP-seq
MIRT1513381	hsa-miR-3928	CLIP-seq
MIRT1513382	hsa-miR-4262	CLIP-seq
MIRT1513383	hsa-miR-4446-5p	CLIP-seq
MIRT1513384	hsa-miR-4457	CLIP-seq
MIRT1513385	hsa-miR-4463	CLIP-seq
MIRT1513386	hsa-miR-4471	CLIP-seq
MIRT1513387	hsa-miR-4485	CLIP-seq
MIRT1513388	hsa-miR-4495	CLIP-seq
MIRT1513389	hsa-miR-4633-5p	CLIP-seq
MIRT1513390	hsa-miR-4646-5p	CLIP-seq
MIRT1513391	hsa-miR-4659a-3p	CLIP-seq
MIRT1513392	hsa-miR-4659b-3p	CLIP-seq
MIRT1513393	hsa-miR-4672	CLIP-seq
MIRT1513394	hsa-miR-4694-3p	CLIP-seq
MIRT1513395	hsa-miR-4700-3p	CLIP-seq
MIRT1513396	hsa-miR-4706	CLIP-seq
MIRT1513397	hsa-miR-4717-3p	CLIP-seq
MIRT1513398	hsa-miR-4747-5p	CLIP-seq
MIRT1513399	hsa-miR-4749-5p	CLIP-seq
MIRT1513400	hsa-miR-4766-5p	CLIP-seq
MIRT1513401	hsa-miR-4784	CLIP-seq
MIRT1513402	hsa-miR-4789-5p	CLIP-seq
MIRT1513403	hsa-miR-485-3p	CLIP-seq
MIRT1513404	hsa-miR-491-3p	CLIP-seq
MIRT1513405	hsa-miR-494	CLIP-seq
MIRT1513406	hsa-miR-499-3p	CLIP-seq
MIRT1513407	hsa-miR-499a-3p	CLIP-seq
MIRT1513408	hsa-miR-513b	CLIP-seq
MIRT1513409	hsa-miR-520d-5p	CLIP-seq
MIRT1513410	hsa-miR-524-5p	CLIP-seq
MIRT1513411	hsa-miR-543	CLIP-seq
MIRT1513412	hsa-miR-548aa	CLIP-seq
MIRT1513413	hsa-miR-548c-3p	CLIP-seq
MIRT1513414	hsa-miR-564	CLIP-seq
MIRT1513415	hsa-miR-567	CLIP-seq
MIRT1513416	hsa-miR-607	CLIP-seq
MIRT1513417	hsa-miR-663	CLIP-seq
MIRT1513418	hsa-miR-765	CLIP-seq
MIRT1513419	hsa-miR-873	CLIP-seq
MIRT1513420	hsa-miR-876-3p	CLIP-seq
MIRT1513421	hsa-miR-96	CLIP-seq
MIRT1513342	hsa-miR-145	CLIP-seq
MIRT1513350	hsa-miR-297	CLIP-seq
MIRT2154747	hsa-miR-3152-5p	CLIP-seq
MIRT1513366	hsa-miR-3180-5p	CLIP-seq
MIRT1513371	hsa-miR-323-5p	CLIP-seq
MIRT1513375	hsa-miR-3650	CLIP-seq
MIRT2154748	hsa-miR-4666-5p	CLIP-seq
MIRT1513394	hsa-miR-4694-3p	CLIP-seq
MIRT2154749	hsa-miR-4796-5p	CLIP-seq
MIRT1513408	hsa-miR-513b	CLIP-seq
MIRT1513409	hsa-miR-520d-5p	CLIP-seq
MIRT1513410	hsa-miR-524-5p	CLIP-seq
MIRT1513415	hsa-miR-567	CLIP-seq
MIRT1513420	hsa-miR-876-3p	CLIP-seq
MIRT1513343	hsa-miR-181a	CLIP-seq
MIRT1513344	hsa-miR-181b	CLIP-seq
MIRT1513345	hsa-miR-181c	CLIP-seq
MIRT1513346	hsa-miR-181d	CLIP-seq
MIRT1513350	hsa-miR-297	CLIP-seq
MIRT1513371	hsa-miR-323-5p	CLIP-seq
MIRT1513375	hsa-miR-3650	CLIP-seq
MIRT1513382	hsa-miR-4262	CLIP-seq
MIRT2374796	hsa-miR-4432	CLIP-seq
MIRT1513384	hsa-miR-4457	CLIP-seq
MIRT1513394	hsa-miR-4694-3p	CLIP-seq
MIRT1513408	hsa-miR-513b	CLIP-seq
MIRT1513409	hsa-miR-520d-5p	CLIP-seq
MIRT1513410	hsa-miR-524-5p	CLIP-seq
MIRT2374797	hsa-miR-548u	CLIP-seq
MIRT1513415	hsa-miR-567	CLIP-seq
MIRT1513420	hsa-miR-876-3p	CLIP-seq
MIRT2463992	hsa-miR-4282	CLIP-seq
MIRT2463993	hsa-miR-4490	CLIP-seq
MIRT1513413	hsa-miR-548c-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0003677	Function	DNA binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007417	Process	Central nervous system development	IBA	21873635
GO:0007420	Process	Brain development	TAS	9771712
GO:0007601	Process	Visual perception	ISS
GO:0016604	Component	Nuclear body	IDA
GO:0030154	Process	Cell differentiation	IEA
GO:0031490	Function	Chromatin DNA binding	ISS
GO:0045892	Process	Negative regulation of transcription, DNA-templated	ISS
GO:0045893	Process	Positive regulation of transcription, DNA-templated	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	ISS

Other IDs

• MIM: 603073
• HGNC: 12873
• e!Ensembl: ENSG00000043355

Protein

• UniProt ID: O95409
• Protein name: Zinc finger protein ZIC 2 (Zinc finger protein of the cerebellum 2)
• Protein function: Acts as a transcriptional activator or repressor. Plays important roles in the early stage of organogenesis of the CNS. Activates the transcription of the serotonin transporter SERT in uncrossed ipsilateral retinal ganglion cells (iRGCs) to refi
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18366	zf_ZIC	248 → 295	Zic proteins zinc finger domain	Domain
  PF00096	zf-C2H2	333 → 357	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	363 → 387	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	393 → 415	Zinc finger, C2H2 type	Domain

• Sequence:

  MLLDAGPQFPAIGVGSFARHHHHSAAAAAAAAAEMQDRELSLAAAQNGFVDSAAAHMGAF
  KLNPGAHELSPGQSSAFTSQGPGAYPGSAAAAAAAAALGPHAAHVGSYSGPPFNSTRDFL
  FRSRGFGDSAPGGGQHGLFGPGAGGLHHAHSDAQGHLLFPGLPEQHGPHGSQNVLNGQMR
  LGLPGEVFGRSEQYRQVASPRTDPYSAAQLHNQYGPMNMNMGMNMAAAAAHHHHHHHHHP
  GAFFRYMRQQCIKQELICKWIDPEQLSNPKKSCNKTFSTMHELVTHVSVEHVGGPEQSNH
  VCFWEECPREGKPFKAKYKLVNHIRVHTGEKPFPCPFPGCGKVFARSENLKIHKRTHTGE
  KPFQCEFEGCDRRFANSSDRKKHMHVHTSDKPYLCKMCDKSYTHPSSLRKHMKVHESSPQ
  GSESSPAASSGYESSTPPGLVSPSAEPQSSSNLSPAAAAAAAAAAAAAAAVSAVHRGGGS
  GSGGAGGGSGGGSGSGGGGGGAGGGGGGSSGGGSGTAGGHSGLSSNFNEWYV

• Sequence length: 532

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
Anencephaly	Iniencephaly, Exencephaly	rs773607884	15136147
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283
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
Hemangioma	Hemangioma	rs119475040, rs121917766
Holoprosencephaly	Holoprosencephaly, HOLOPROSENCEPHALY 2 (disorder), HOLOPROSENCEPHALY 4 (disorder), HOLOPROSENCEPHALY 5	rs121917878, rs121917879, rs121917880, rs1572624159, rs137853021, rs397515364, rs397515365, rs2147483647, rs121909067, rs121909070, rs199476093, rs28936675, rs104894044, rs104894045, rs104894040, rs104894042, rs397515375, rs104894046, rs104894048, rs397515376, rs104894050, rs104894051, rs104894053, rs267607047, rs121917707, rs121917708, rs1594290658, rs387906867, rs387906995, rs387906996, rs387906997, rs398122882, rs397515499, rs397515500, rs397515502, rs587778786, rs587778788, rs587778789, rs587778792, rs146990376, rs587778799, rs587778803, rs587778805, rs587778806, rs794729641, rs864622212, rs876661335, rs876661331, rs876661330, rs876661329, rs886042458, rs1057518696, rs1057518689, rs1057518657, rs1057518660, rs763132615, rs1060499564, rs1060499563, rs1060499562, rs1554691658, rs1555332362, rs753473749, rs1554493810, rs1555332361, rs756225250, rs1554495331, rs528376963, rs1555650923, rs1554834892, rs139565972, rs1554834889, rs1490604080, rs1553337688, rs1554493607, rs1420292012, rs779093031, rs1555332212, rs1456001894, rs1558420022, rs1566405714, rs1567417422, rs1569507848, rs1584800601, rs1594291863, rs1584805934, rs1584806077, rs1594292057, rs1584800607, rs2053256914, rs1317614761, rs2057753419	11285244, 24706429, 9771712, 19955556, 19177455, 15590697, 21976454, 15221788
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Lobar holoprosencephaly	Lobar Holoprosencephaly	rs121909645
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
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Microform holoprosencephaly	Microform holoprosencephaly	rs876661323, rs876661324, rs876661325, rs876661326, rs876661327, rs876661333
Neural tube defect	Neural Tube Defects	rs121918220, rs121434297, rs137853061, rs137853062, rs3127334, rs267607167, rs267607168, rs387907204, rs139365610, rs137955120, rs786201015, rs786201016, rs768434408, rs777661576, rs747846362, rs200137991, rs780014899, rs574132670, rs786204013, rs147257424, rs763539350, rs776483190, rs757259023, rs781461462, rs762921297, rs1114167354, rs557643577, rs147277149, rs765586205, rs377443637, rs1563593163, rs1303000329, rs1565818580, rs986604359, rs1293600145, rs114727354, rs146357218, rs768980918, rs140277700, rs139645527, rs750323424, rs368321176, rs1579619636, rs893229476, rs754990692, rs763079713, rs1593037878, rs747100389, rs372056091, rs1593083585, rs778121031, rs748778907, rs776969786, rs1189298981, rs375908206, rs1734858651, rs778738842	15136147
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17173048
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	22355535
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Semilobar holoprosencephaly	Semilobar Holoprosencephaly	rs876661334, rs876661329, rs876661328
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288

Unknown
Disease name	Disease term	dbSNP ID	References
Acrania	Acrania		15136147
Alobar holoprosencephaly	Alobar Holoprosencephaly
Ambiguous genitalia	Ambiguous Genitalia	rs782562963
Choanal atresia	Choanal Atresia
Congenital coloboma of iris	Congenital coloboma of iris
Congenital hypoplasia of penis	Congenital hypoplasia of penis
Craniorachischisis	Craniorachischisis		15136147
Cyclocephaly	Cyclocephaly
Diastematomyelia	Diastematomyelia		15136147
Duodenal atresia	Duodenal atresia
Dwarfism	Dwarfism
Fused incisors	SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
Liver carcinoma	Liver carcinoma		28284560
Midline interhemispheric variant of holoprosencephaly	Midline interhemispheric variant of holoprosencephaly
Neurenteric cyst	Neurenteric Cyst		15136147
Panhypopituitarism	Panhypopituitarism
Primary tethered cord syndrome	Tethered Cord Syndrome		15136147
Prostatic neoplasms	Prostatic Neoplasms		17173048
Renal agenesis	Congenital absence of kidneys syndrome
Septopreoptic holoprosencephaly	Septopreoptic holoprosencephaly
Spinal cord myelodysplasia	Spinal Cord Myelodysplasia		15136147
Strabismus	Strabismus
Synophrys	Synophrys
Trigonocephaly	Trigonocephaly	rs281875280, rs184394424, rs200650442, rs762799389, rs556974765