CAMTA1 (calmodulin binding transcription activator 1)

Gene

• Entrez ID: 23261
• Gene name: Calmodulin binding transcription activator 1
• Gene symbol: CAMTA1
• Synonyms: CANPMR, CECBA
• Chromosome: 1
• Chromosome location: 1p36.31-p36.23
• Summary: The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs863224853	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886041635	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs886041999	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs886043243	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057523792	C>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057524775	G>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs1064795180	->CG	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1064796146	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1085307743	G>-	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs1135401818	C>T	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1485778259	C>A,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, stop gained
rs1553231167	G>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs1553238271	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs1553238311	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1553239242	->G	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1553240332	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1553272873	G>A	Likely-pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1553280067	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1553288180	C>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs1553288266	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1576688799	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, missense variant
rs1576691273	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, genic upstream transcript variant
rs1577313897	AG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1577362316	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1577362553	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001953	hsa-miR-129-5p	Luciferase reporter assay	18189265
MIRT005101	hsa-miR-155-5p	Microarray	19193853
MIRT005101	hsa-miR-155-5p	Proteomics	18668040
MIRT024244	hsa-miR-218-5p	Sequencing	20371350
MIRT025573	hsa-miR-34a-5p	Sequencing	20371350
MIRT027874	hsa-miR-96-5p	Sequencing	20371350
MIRT053290	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	23853098
MIRT147927	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT147921	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT147927	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT147918	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT147931	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT147922	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT147935	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT147919	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT147920	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT147921	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT860901	hsa-miR-100	CLIP-seq
MIRT860902	hsa-miR-101	CLIP-seq
MIRT860903	hsa-miR-105	CLIP-seq
MIRT860904	hsa-miR-106a	CLIP-seq
MIRT860905	hsa-miR-106b	CLIP-seq
MIRT860906	hsa-miR-1208	CLIP-seq
MIRT860907	hsa-miR-1228	CLIP-seq
MIRT860908	hsa-miR-124	CLIP-seq
MIRT860909	hsa-miR-1252	CLIP-seq
MIRT860910	hsa-miR-130a	CLIP-seq
MIRT860911	hsa-miR-130b	CLIP-seq
MIRT860912	hsa-miR-132	CLIP-seq
MIRT860913	hsa-miR-1324	CLIP-seq
MIRT860914	hsa-miR-140-3p	CLIP-seq
MIRT860915	hsa-miR-146a	CLIP-seq
MIRT860916	hsa-miR-146b-5p	CLIP-seq
MIRT860917	hsa-miR-17	CLIP-seq
MIRT860918	hsa-miR-1913	CLIP-seq
MIRT860919	hsa-miR-19a	CLIP-seq
MIRT860920	hsa-miR-19b	CLIP-seq
MIRT860921	hsa-miR-20a	CLIP-seq
MIRT860922	hsa-miR-20b	CLIP-seq
MIRT860923	hsa-miR-212	CLIP-seq
MIRT860924	hsa-miR-25	CLIP-seq
MIRT860925	hsa-miR-300	CLIP-seq
MIRT860926	hsa-miR-301a	CLIP-seq
MIRT860927	hsa-miR-301b	CLIP-seq
MIRT860928	hsa-miR-302a	CLIP-seq
MIRT860929	hsa-miR-302b	CLIP-seq
MIRT860930	hsa-miR-302c	CLIP-seq
MIRT860931	hsa-miR-302d	CLIP-seq
MIRT860932	hsa-miR-302e	CLIP-seq
MIRT860933	hsa-miR-3149	CLIP-seq
MIRT860934	hsa-miR-3151	CLIP-seq
MIRT860935	hsa-miR-3158-5p	CLIP-seq
MIRT860936	hsa-miR-3160-3p	CLIP-seq
MIRT860937	hsa-miR-32	CLIP-seq
MIRT860938	hsa-miR-324-3p	CLIP-seq
MIRT860939	hsa-miR-329	CLIP-seq
MIRT860940	hsa-miR-331-5p	CLIP-seq
MIRT860941	hsa-miR-338-5p	CLIP-seq
MIRT860942	hsa-miR-3609	CLIP-seq
MIRT860943	hsa-miR-3613-3p	CLIP-seq
MIRT860944	hsa-miR-3617	CLIP-seq
MIRT860945	hsa-miR-362-3p	CLIP-seq
MIRT860946	hsa-miR-363	CLIP-seq
MIRT860947	hsa-miR-3664-5p	CLIP-seq
MIRT860948	hsa-miR-3665	CLIP-seq
MIRT860949	hsa-miR-3666	CLIP-seq
MIRT860950	hsa-miR-3667-3p	CLIP-seq
MIRT860951	hsa-miR-367	CLIP-seq
MIRT860952	hsa-miR-3675-3p	CLIP-seq
MIRT860953	hsa-miR-3692	CLIP-seq
MIRT860954	hsa-miR-3714	CLIP-seq
MIRT860955	hsa-miR-372	CLIP-seq
MIRT860956	hsa-miR-373	CLIP-seq
MIRT860957	hsa-miR-377	CLIP-seq
MIRT860958	hsa-miR-381	CLIP-seq
MIRT860959	hsa-miR-382	CLIP-seq
MIRT860960	hsa-miR-3908	CLIP-seq
MIRT860961	hsa-miR-3910	CLIP-seq
MIRT860962	hsa-miR-3923	CLIP-seq
MIRT860963	hsa-miR-3978	CLIP-seq
MIRT860964	hsa-miR-409-3p	CLIP-seq
MIRT860965	hsa-miR-4265	CLIP-seq
MIRT860966	hsa-miR-4283	CLIP-seq
MIRT860967	hsa-miR-4295	CLIP-seq
MIRT860968	hsa-miR-4296	CLIP-seq
MIRT860969	hsa-miR-4317	CLIP-seq
MIRT860970	hsa-miR-432	CLIP-seq
MIRT860971	hsa-miR-4322	CLIP-seq
MIRT860972	hsa-miR-4328	CLIP-seq
MIRT860973	hsa-miR-4447	CLIP-seq
MIRT860974	hsa-miR-4472	CLIP-seq
MIRT860975	hsa-miR-4487	CLIP-seq
MIRT860976	hsa-miR-4489	CLIP-seq
MIRT860977	hsa-miR-4506	CLIP-seq
MIRT860978	hsa-miR-4528	CLIP-seq
MIRT860979	hsa-miR-454	CLIP-seq
MIRT860980	hsa-miR-4666-3p	CLIP-seq
MIRT860981	hsa-miR-4675	CLIP-seq
MIRT860982	hsa-miR-4677-3p	CLIP-seq
MIRT860983	hsa-miR-4678	CLIP-seq
MIRT860984	hsa-miR-4679	CLIP-seq
MIRT860985	hsa-miR-4714-5p	CLIP-seq
MIRT860986	hsa-miR-4724-3p	CLIP-seq
MIRT860987	hsa-miR-4736	CLIP-seq
MIRT860988	hsa-miR-4741	CLIP-seq
MIRT860989	hsa-miR-4749-3p	CLIP-seq
MIRT860990	hsa-miR-4766-5p	CLIP-seq
MIRT860991	hsa-miR-4795-3p	CLIP-seq
MIRT860992	hsa-miR-4796-3p	CLIP-seq
MIRT860993	hsa-miR-491-5p	CLIP-seq
MIRT860994	hsa-miR-506	CLIP-seq
MIRT860995	hsa-miR-511	CLIP-seq
MIRT860996	hsa-miR-512-3p	CLIP-seq
MIRT860997	hsa-miR-519a	CLIP-seq
MIRT860998	hsa-miR-519b-3p	CLIP-seq
MIRT860999	hsa-miR-519c-3p	CLIP-seq
MIRT861000	hsa-miR-519d	CLIP-seq
MIRT861001	hsa-miR-520a-3p	CLIP-seq
MIRT861002	hsa-miR-520b	CLIP-seq
MIRT861003	hsa-miR-520c-3p	CLIP-seq
MIRT861004	hsa-miR-520d-3p	CLIP-seq
MIRT861005	hsa-miR-520e	CLIP-seq
MIRT861006	hsa-miR-526b	CLIP-seq
MIRT861007	hsa-miR-548a-5p	CLIP-seq
MIRT861008	hsa-miR-548ab	CLIP-seq
MIRT861009	hsa-miR-548ac	CLIP-seq
MIRT861010	hsa-miR-548ae	CLIP-seq
MIRT861011	hsa-miR-548ah	CLIP-seq
MIRT861012	hsa-miR-548aj	CLIP-seq
MIRT861013	hsa-miR-548ak	CLIP-seq
MIRT861014	hsa-miR-548am	CLIP-seq
MIRT861015	hsa-miR-548an	CLIP-seq
MIRT861016	hsa-miR-548b-5p	CLIP-seq
MIRT861017	hsa-miR-548c-5p	CLIP-seq
MIRT861018	hsa-miR-548d-3p	CLIP-seq
MIRT861019	hsa-miR-548d-5p	CLIP-seq
MIRT861020	hsa-miR-548h	CLIP-seq
MIRT861021	hsa-miR-548i	CLIP-seq
MIRT861022	hsa-miR-548j	CLIP-seq
MIRT861023	hsa-miR-548w	CLIP-seq
MIRT861024	hsa-miR-548x	CLIP-seq
MIRT861025	hsa-miR-548y	CLIP-seq
MIRT861026	hsa-miR-548z	CLIP-seq
MIRT861027	hsa-miR-555	CLIP-seq
MIRT861028	hsa-miR-558	CLIP-seq
MIRT861029	hsa-miR-559	CLIP-seq
MIRT861030	hsa-miR-570	CLIP-seq
MIRT861031	hsa-miR-578	CLIP-seq
MIRT861032	hsa-miR-582-5p	CLIP-seq
MIRT861033	hsa-miR-586	CLIP-seq
MIRT861034	hsa-miR-589	CLIP-seq
MIRT861035	hsa-miR-622	CLIP-seq
MIRT861036	hsa-miR-641	CLIP-seq
MIRT861037	hsa-miR-668	CLIP-seq
MIRT861038	hsa-miR-720	CLIP-seq
MIRT861039	hsa-miR-764	CLIP-seq
MIRT861040	hsa-miR-889	CLIP-seq
MIRT861041	hsa-miR-92a	CLIP-seq
MIRT861042	hsa-miR-92b	CLIP-seq
MIRT861043	hsa-miR-93	CLIP-seq
MIRT861044	hsa-miR-99a	CLIP-seq
MIRT861045	hsa-miR-99b	CLIP-seq
MIRT1921542	hsa-miR-4263	CLIP-seq
MIRT1955512	hsa-miR-320a	CLIP-seq
MIRT1955513	hsa-miR-320b	CLIP-seq
MIRT1955514	hsa-miR-320c	CLIP-seq
MIRT1955515	hsa-miR-320d	CLIP-seq
MIRT1955516	hsa-miR-3614-5p	CLIP-seq
MIRT1955517	hsa-miR-3942-3p	CLIP-seq
MIRT860972	hsa-miR-4328	CLIP-seq
MIRT1955518	hsa-miR-4429	CLIP-seq
MIRT1955519	hsa-miR-4672	CLIP-seq
MIRT1955520	hsa-miR-4738-3p	CLIP-seq
MIRT1955521	hsa-miR-767-3p	CLIP-seq
MIRT1955512	hsa-miR-320a	CLIP-seq
MIRT1955513	hsa-miR-320b	CLIP-seq
MIRT1955514	hsa-miR-320c	CLIP-seq
MIRT1955515	hsa-miR-320d	CLIP-seq
MIRT860947	hsa-miR-3664-5p	CLIP-seq
MIRT1955517	hsa-miR-3942-3p	CLIP-seq
MIRT2193205	hsa-miR-431	CLIP-seq
MIRT1955518	hsa-miR-4429	CLIP-seq
MIRT2193206	hsa-miR-450b-5p	CLIP-seq
MIRT2193207	hsa-miR-507	CLIP-seq
MIRT2193208	hsa-miR-513b	CLIP-seq
MIRT2193209	hsa-miR-557	CLIP-seq
MIRT2193210	hsa-miR-579	CLIP-seq
MIRT2193210	hsa-miR-579	CLIP-seq
MIRT2496283	hsa-miR-1183	CLIP-seq
MIRT860944	hsa-miR-3617	CLIP-seq
MIRT2496284	hsa-miR-4684-3p	CLIP-seq
MIRT861009	hsa-miR-548ac	CLIP-seq
MIRT861010	hsa-miR-548ae	CLIP-seq
MIRT861012	hsa-miR-548aj	CLIP-seq
MIRT861014	hsa-miR-548am	CLIP-seq
MIRT861018	hsa-miR-548d-3p	CLIP-seq
MIRT861024	hsa-miR-548x	CLIP-seq
MIRT861026	hsa-miR-548z	CLIP-seq
MIRT2496285	hsa-miR-593	CLIP-seq
MIRT861036	hsa-miR-641	CLIP-seq
MIRT2496283	hsa-miR-1183	CLIP-seq
MIRT860944	hsa-miR-3617	CLIP-seq
MIRT861036	hsa-miR-641	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003690	Function	Double-stranded DNA binding	IBA	21873635
GO:0003712	Function	Transcription coregulator activity	IBA	21873635
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005730	Component	Nucleolus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0035307	Process	Positive regulation of protein dephosphorylation	IMP	23853098
GO:0070886	Process	Positive regulation of calcineurin-NFAT signaling cascade	IMP	23853098

Other IDs

• MIM: 611501
• HGNC: 18806
• e!Ensembl: ENSG00000171735

Protein

• UniProt ID: Q9Y6Y1
• Protein name: Calmodulin-binding transcription activator 1
• Protein function: Transcriptional activator.
• PDB: 2CXK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03859	CG-1	69 → 182	CG-1 domain	Domain
  PF01833	TIG	872 → 952	IPT/TIG domain	Domain
  PF00612	IQ	1594 → 1609	IQ calmodulin-binding motif	Motif

• Sequence:

  MWRAEGKWLPKTSRKSVSQSVFCGTSTYCVLNTVPPIEDDHGNSNSSHVKIFLPKKLLEC
  LPKCSSLPKERHRWNTNEEIAAYLITFEKHEEWLTTSPKTRPQNGSMILYNRKKVKYRKD
  GYCWKKRKDGKTTREDHMKLKVQGVECLYGCYVHSSIIPTFHRRCYWLLQNPDIVLVHYL
  NVPAIEDCGKPCGPILCSINTDKKEWAKWTKEELIGQLKPMFHGIKWTCSNGNSSSGFSV
  EQLVQQILDSHQTKPQPRTHNCLCTGSLGAGGSVHHKCNSAKHRIISPKVEPRTGGYGSH
  SEVQHNDVSEGKHEHSHSKGSSREKRNGKVAKPVLLHQSSTEVSSTNQVEVPDTTQSSPV
  SISSGLNSDPDMVDSPVVTGVSGMAVASVMGSLSQSATVFMSEVTNEAVYTMSPTAGPNH
  HLLSPDASQGLVLAVSSDGHKFAFPTTGSSESLSMLPTNVSEELVLSTTLDGGRKIPETT
  MNFDPDCFLNNPKQGQTYGGGGLKAEMVSSNIRHSPPGERSFSFTTVLTKEIKTEDTSFE
  QQMAKEAYSSSAAAVAASSLTLTAGSSLLPSGGGLSPSTTLEQMDFSAIDSNKDYTSSFS
  QTGHSPHIHQTPSPSFFLQDASKPLPVEQNTHSSLSDSGGTFVMPTVKTEASSQTSSCSG
  HVETRIESTSSLHLMQFQANFQAMTAEGEVTMETSQAAEGSEVLLKSGELQACSSEHYLQ
  PETNGVIRSAGGVPILPGNVVQGLYPVAQPSLGNASNMELSLDHFDISFSNQFSDLINDF
  ISVEGGSSTIYGHQLVSGDSTALSQSEDGARAPFTQAEMCLPCCSPQQGSLQLSSSEGGA
  STMAYMHVAEVVSAASAQGTLGMLQQSGRVFMVTDYSPEWSYPEGGVKVLITGPWQEASN
  NYSCLFDQISVPASLIQPGVLRCYCPAHDTGLVTLQVAFNNQIISNSVVFEYKARALPTL
  PSSQHDWLSLDDNQFRMSILERLEQMERRMAEMTGSQQHKQASGGGSSGGGSGSGNGGSQ
  AQCASGTGALGSCFESRVVVVCEKMMSRACWAKSKHLIHSKTFRGMTLLHLAAAQGYATL
  IQTLIKWRTKHADSIDLELEVDPLNVDHFSCTPLMWACALGHLEAAVVLYKWDRRAISIP
  DSLGRLPLGIARSRGHVKLAECLEHLQRDEQAQLGQNPRIHCPASEEPSTESWMAQWHSE
  AISSPEIPKGVTVIASTNPELRRPRSEPSNYYSSESHKDYPAPKKHKLNPEYFQTRQEKL
  LPTALSLEEPNIRKQSPSSKQSVPETLSPSEGVRDFSRELSPPTPETAAFQASGSQPVGK
  WNSKDLYIGVSTVQVTGNPKGTSVGKEAAPSQVRPREPMSVLMMANREVVNTELGSYRDS
  AENEECGQPMDDIQVNMMTLAEHIIEATPDRIKQENFVPMESSGLERTDPATISSTMSWL
  ASYLADADCLPSAAQIRSAYNEPLTPSSNTSLSPVGSPVSEIAFEKPNLPSAADWSEFLS
  ASTSEKVENEFAQLTLSDHEQRELYEAARLVQTAFRKYKGRPLREQQEVAAAVIQRCYRK
  YKQYALYKKMTQAAILIQSKFRSYYEQKKFQQSRRAAVLIQKYYRSYKKCGKRRQARRTA
  VIVQQKLRSSLLTKKQDQAARKIMRFLRRCRHSPLVDHRLYKRSERIEKGQGT

• Sequence length: 1673

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Amyotrophic lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder), AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs1885090126, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs749428135, rs371575563, rs1402429085, rs1218712729, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087	27244217
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
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
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	17293876, 19184112
Lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic	rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048	27244217
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Mild Mental Retardation	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
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Prostate cancer	Prostate carcinoma	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	31095341

Unknown
Disease name	Disease term	dbSNP ID	References
Achoo syndrome	Autosomal dominant compelling helio ophthalmic outburst syndrome		27182965
Cerebellar ataxia with mental retardation	Non-progressive cerebellar ataxia with intellectual disability, CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION		22693284, 24738973
Cerebellar hypoplasia	Cerebellar Hypoplasia
Cerebral cortical atrophy	Cerebral cortical atrophy
Dysarthria	Dysarthria
Dysmorphic features	Dysmorphic features		17470457, 25049392, 22031302, 22693284, 16678093, 24738973, 17537720, 24145135
Epithelioid hemangioendothelioma	Epithelioid hemangioendothelioma		24986479
Gastroesophageal reflux disease	Gastroesophageal reflux disease
Hypoplastic hippocampus	Hypoplastic hippocampus
Mental depression	Major Depressive Disorder	rs587778876, rs587778877	29662059, 29942085
Microstomia	Microstomia
Mood disorder	Mood Disorders		29942085
Strabismus	Strabismus
Supernumerary mesiodens tooth	Supernumerary mesiodens tooth