DSCAM (DS cell adhesion molecule)

Gene

• Entrez ID: 1826
• Gene name: DS cell adhesion molecule
• Gene symbol: DSCAM
• Synonyms: CHD2, CHD2-42, CHD2-52
• Chromosome: 21
• Chromosome location: 21q22.2
• Summary: This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A ge

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1369501286	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1419539530	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT945648	hsa-miR-134	CLIP-seq
MIRT945649	hsa-miR-3118	CLIP-seq
MIRT945650	hsa-miR-3136-5p	CLIP-seq
MIRT945651	hsa-miR-331-3p	CLIP-seq
MIRT945652	hsa-miR-3679-3p	CLIP-seq
MIRT945653	hsa-miR-4326	CLIP-seq
MIRT945654	hsa-miR-4439	CLIP-seq
MIRT945655	hsa-miR-4446-5p	CLIP-seq
MIRT945656	hsa-miR-4513	CLIP-seq
MIRT945657	hsa-miR-4670-3p	CLIP-seq
MIRT945658	hsa-miR-4707-3p	CLIP-seq
MIRT945659	hsa-miR-4719	CLIP-seq
MIRT945660	hsa-miR-513b	CLIP-seq
MIRT1979926	hsa-miR-3065-5p	CLIP-seq
MIRT1979927	hsa-miR-4325	CLIP-seq
MIRT1979928	hsa-miR-4420	CLIP-seq
MIRT1979929	hsa-miR-4793-5p	CLIP-seq
MIRT1979927	hsa-miR-4325	CLIP-seq
MIRT2215201	hsa-miR-507	CLIP-seq
MIRT2215202	hsa-miR-557	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19196994, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IEA
GO:0007155	Process	Cell adhesion	TAS	9426258
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA	21873635
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	ISS
GO:0007162	Process	Negative regulation of cell adhesion	ISS
GO:0007399	Process	Nervous system development	TAS	9426258
GO:0007411	Process	Axon guidance	IBA	21873635
GO:0007411	Process	Axon guidance	ISS
GO:0007416	Process	Synapse assembly	ISS
GO:0007626	Process	Locomotory behavior	IEA
GO:0010842	Process	Retina layer formation	ISS
GO:0016020	Component	Membrane	TAS	9426258
GO:0030424	Component	Axon	IBA	21873635
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	ISS
GO:0030426	Component	Growth cone	ISS
GO:0038007	Process	Netrin-activated signaling pathway	IEA
GO:0042327	Process	Positive regulation of phosphorylation	IDA	19196994
GO:0043025	Component	Neuronal cell body	ISS
GO:0045202	Component	Synapse	ISS
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:0048842	Process	Positive regulation of axon extension involved in axon guidance	IDA	18585357
GO:0060060	Process	Post-embryonic retina morphogenesis in camera-type eye	IEA
GO:0060219	Process	Camera-type eye photoreceptor cell differentiation	ISS
GO:0070593	Process	Dendrite self-avoidance	IBA	21873635
GO:0070593	Process	Dendrite self-avoidance	ISS
GO:0098632	Function	Cell-cell adhesion mediator activity	IBA	21873635
GO:1990782	Function	Protein tyrosine kinase binding	IEA
GO:1990890	Function	Netrin receptor binding	IPI	22685302

Other IDs

• MIM: 602523
• HGNC: 3039
• e!Ensembl: ENSG00000171587

Protein

• UniProt ID: O60469
• Protein name: Cell adhesion molecule DSCAM (CHD2) (Down syndrome cell adhesion molecule)
• Protein function: Cell adhesion molecule that plays a role in neuronal self-avoidance. Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Mediates within retinal amacrine and ganglion cell subtypes both is
• PDB: 6ZR7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	225 → 310	Immunoglobulin I-set domain	Domain
  PF07679	I-set	314 → 401	Immunoglobulin I-set domain	Domain
  PF13927	Ig_3	406 → 488		Domain
  PF07679	I-set	504 → 595	Immunoglobulin I-set domain	Domain
  PF13927	Ig_3	596 → 673		Domain
  PF13927	Ig_3	689 → 770		Domain
  PF07679	I-set	788 → 882	Immunoglobulin I-set domain	Domain
  PF00041	fn3	886 → 972	Fibronectin type III domain	Domain
  PF00041	fn3	986 → 1076	Fibronectin type III domain	Domain
  PF00041	fn3	1090 → 1177	Fibronectin type III domain	Domain
  PF00041	fn3	1190 → 1273	Fibronectin type III domain	Domain
  PF07679	I-set	1287 → 1376	Immunoglobulin I-set domain	Domain
  PF00041	fn3	1379 → 1463	Fibronectin type III domain	Domain

• Sequence:

  MWILALSLFQSFANVFSEDLHSSLYFVNASLQEVVFASTTGTLVPCPAAGIPPVTLRWYL
  ATGEEIYDVPGIRHVHPNGTLQIFPFPPSSFSTLIHDNTYYCTAENPSGKIRSQDVHIKA
  VLREPYTVRVEDQKTMRGNVAVFKCIIPSSVEAYITVVSWEKDTVSLVSGSRFLITSTGA
  LYIKDVQNEDGLYNYRCITRHRYTGETRQSNSARLFVSDPANSAPSILDGFDHRKAMAGQ
  RVELPCKALGHPEPDYRWLKDNMPLELSGRFQKTVTGLLIENIRPSDSGSYVCEVSNRYG
  TAKVIGRLYVKQPLKATISPRKVKSSVGSQVSLSCSVTGTEDQELSWYRNGEILNPGKNV
  RITGINHENLIMDHMVKSDGGAYQCFVRKDKLSAQDYVQVVLEDGTPKIISAFSEKVVSP
  AEPVSLMCNVKGTPLPTITWTLDDDPILKGGSHRISQMITSEGNVVSYLNISSSQVRDGG
  VYRCTANNSAGVVLYQARINVRGPASIRPMKNITAIAGRDTYIHCRVIGYPYYSIKWYKN
  SNLLPFNHRQVAFENNGTLKLSDVQKEVDEGEYTCNVLVQPQLSTSQSVHVTVKVPPFIQ
  PFEFPRFSIGQRVFIPCVVVSGDLPITITWQKDGRPIPGSLGVTIDNIDFTSSLRISNLS
  LMHNGNYTCIARNEAAAVEHQSQLIVRVPPKFVVQPRDQDGIYGKAVILNCSAEGYPVPT
  IVWKFSKGAGVPQFQPIALNGRIQVLSNGSLLIKHVVEEDSGYYLCKVSNDVGADVSKSM
  YLTVKIPAMITSYPNTTLATQGQKKEMSCTAHGEKPIIVRWEKEDRIINPEMARYLVSTK
  EVGEEVISTLQILPTVREDSGFFSCHAINSYGEDRGIIQLTVQEPPDPPEIEIKDVKART
  ITLRWTMGFDGNSPITGYDIECKNKSDSWDSAQRTKDVSPQLNSATIIDIHPSSTYSIRM
  YAKNRIGKSEPSNELTITADEAAPDGPPQEVHLEPISSQSIRVTWKAPKKHLQNGIIRGY
  QIGYREYSTGGNFQFNIISVDTSGDSEVYTLDNLNKFTQYGLVVQACNRAGTGPSSQEII
  TTTLEDVPSYPPENVQAIATSPESISISWSTLSKEALNGILQGFRVIYWANLMDGELGEI
  KNITTTQPSLELDGLEKYTNYSIQVLAFTRAGDGVRSEQIFTRTKEDVPGPPAGVKAAAA
  SASMVFVSWLPPLKLNGIIRKYTVFCSHPYPTVISEFEASPDSFSYRIPNLSRNRQYSVW
  VVAVTSAGRGNSSEIITVEPLAKAPARILTFSGTVTTPWMKDIVLPCKAVGDPSPAVKWM
  KDSNGTPSLVTIDGRRSIFSNGSFIIRTVKAEDSGYYSCIANNNWGSDEIILNLQVQVPP
  DQPRLTVSKTTSSSITLSWLPGDNGGSSIRGYILQYSEDNSEQWGSFPISPSERSYRLEN
  LKCGTWYKFTLTAQNGVGPGRISEIIEAKTLGKEPQFSKEQELFASINTTRVRLNLIGWN
  DGGCPITSFTLEYRPFGTTVWTTAQRTSLSKSYILYDLQEATWYELQMRVCNSAGCAEKQ
  ANFATLNYDGSTIPPLIKSVVQNEEGLTTNEGLKMLVTISCILVGVLLLFVLLLVVRRRR
  REQRLKRLRDAKSLAEMLMSKNTRTSDTLSKQQQTLRMHIDIPRAQLLIEERDTMETIDD
  RSTVLLTDADFGEAAKQKSLTVTHTVHYQSVSQATGPLVDVSDARPGTNPTTRRNAKAGP
  TARNRYASQWTLNRPHPTISAHTLTTDWRLPTPRAAGSVDKESDSYSVSPSQDTDRARSS
  MVSTESASSTYEELARAYEHAKMEEQLRHAKFTITECFISDTSSEQLTAGTNEYTDSLTS
  STPSESGICRFTASPPKPQDGGRVMNMAVPKAHRPGDLIHLPPYLRMDFLLNRGGPGTSR
  DLSLGQACLEPQKSRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQREGAELG
  QAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV

• Sequence length: 2012

Pathways

Reactome:

DSCAM interactions

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Charcot-marie-tooth disease	Charcot-Marie-Tooth Disease, Type Ia (disorder)	rs137852739, rs137852737, rs118203972, rs118203974, rs267607183, rs267606878, rs121908287, rs1562648373, rs121908288, rs1368013631, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295, rs28940296, rs119103261, rs119103262, rs119103263, rs119103265, rs119103266, rs119103267, rs119103268, rs80338924, rs80338932, rs80338933, rs80338934, rs104894351, rs104894345, rs120074137, rs120074138, rs120074139, rs104894075, rs104894076, rs104894077, rs28937906, rs104894078, rs104894079, rs104894080, rs121908114, rs587777608, rs758843908, rs137852972, rs137852973, rs137852975, rs121908160, rs104894714, rs104894715, rs104894706, rs104894707, rs104894708, rs119482081, rs119482083, rs119482082, rs121912632, rs121912633, rs77975504, rs121912637, rs267607143, rs267607144, rs267607145, rs267607146, rs119483085, rs113994102, rs606231157, rs606231158, rs104894519, rs104894520, rs104894521, rs104894522, rs111033171, rs137853022, rs28939712, rs121908833, rs121908834, rs786200893, rs121434402, rs121434403, rs121434404, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs267606772, rs121909078, rs121909079, rs28939680, rs29001571, rs28937568, rs28937569, rs28939681, rs104894020, rs121909112, rs267607194, rs587776688, rs104894617, rs104894618, rs104894620, rs104894621, rs104894622, rs104894623, rs80338763, rs104894626, rs104894627, rs28936682, rs104894625, rs267606621, rs137852665, rs137852666, rs786205089, rs137852669, rs137852643, rs137852644, rs137852646, rs199476138, rs80338732, rs104894810, rs104894811, rs104894812, rs104894814, rs104894818, rs104894819, rs104894821, rs104894822, rs104894824, rs267606672, rs28933979, rs121918070, rs121918071, rs76992529, rs59443585, rs28928910, rs60261494, rs62636505, rs121913663, rs121913583, rs121913584, rs121913585, rs121913586, rs2102257349, rs121913587, rs121913588, rs121913589, rs121913590, rs121913594, rs121913595, rs121913596, rs121913597, rs121913598, rs121913599, rs121913601, rs121913602, rs121913603, rs1558154193, rs58932704, rs57520892, rs28933091, rs28933092, rs60864230, rs57920071, rs61282106, rs61672878, rs58596362, rs28933093, rs58048078, rs121912496, rs60458016, rs121909721, rs121909723, rs121909724, rs104894159, rs104894161, rs121434563, rs267607148, rs267607149, rs387906324, rs116840818, rs116840819, rs116840815, rs116840822, rs116840821, rs137852736, rs137852738, rs80338922, rs80338925, rs80338926, rs80338929, rs80338931, rs80338936, rs80338937, rs80338921, rs267607243, rs199473690, rs199422214, rs387906738, rs606231229, rs387906902, rs387906904, rs387906905, rs1555365597, rs387906990, rs387906991, rs387907032, rs786200930, rs387907035, rs387907036, rs387907037, rs387907038, rs387907242, rs386134243, rs267607578, rs147952488, rs267607261, rs267607263, rs267607257, rs267607258, rs281865060, rs63749871, rs397514494, rs397514534, rs606231237, rs397515432, rs281865136, rs281865137, rs281865121, rs281865123, rs281865124, rs281865125, rs281865128, rs267607247, rs281865134, rs281865135, rs58982919, rs1564287793, rs387907340, rs387907341, rs397517888, rs397517889, rs57508089, rs58013325, rs56984562, rs267607646, rs58917027, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397515441, rs397515442, rs786200937, rs587776986, rs397509411, rs397509412, rs397515454, rs397515455, rs61295588, rs62636503, rs61491953, rs58332872, rs267607555, rs267607644, rs267607617, rs267607567, rs267607634, rs267607575, rs267607590, rs267607545, rs57983345, rs267607620, rs267607618, rs267607577, rs58541611, rs267607637, rs267607598, rs267607638, rs267607597, rs267607599, rs267607550, rs267607552, rs58100028, rs57629361, rs267607592, rs267607581, rs61444459, rs56793579, rs59270054, rs59040894, rs267607569, rs60652225, rs61661343, rs267607570, rs267607542, rs59026483, rs267607571, rs80356807, rs267607584, rs267607609, rs57207746, rs267607587, rs58327533, rs59332535, rs61578124, rs267607632, rs59914820, rs267607591, rs59684335, rs267607645, rs60872029, rs267607614, rs59301204, rs587777063, rs587777838, rs515726153, rs515726154, rs515726162, rs587780564, rs587777606, rs587777877, rs587777878, rs587777876, rs587777875, rs587777880, rs587777715, rs199927590, rs587781250, rs587783595, rs587783596, rs587783597, rs587783598, rs713993043, rs372000714, rs724159994, rs724159959, rs111569862, rs730882139, rs730882140, rs781140315, rs786204003, rs786204215, rs786204119, rs786204095, rs786204123, rs786205157, rs786205207, rs191346286, rs794727035, rs756928158, rs797044758, rs794728598, rs794728604, rs794728589, rs794728597, rs794728606, rs794728593, rs794728610, rs267607623, rs1553265865, rs794728613, rs794729198, rs756880678, rs797044802, rs797044803, rs796052862, rs797044845, rs797045102, rs797044941, rs797044913, rs797044901, rs797044918, rs797045177, rs797045039, rs863224069, rs863224074, rs777604559, rs782490558, rs782190413, rs863224842, rs863224449, rs863224520, rs863224454, rs863224781, rs776221160, rs863224516, rs863224472, rs863224613, rs779696968, rs863224471, rs863224969, rs863224970, rs863224967, rs863224968, rs863225025, rs371856018, rs770546306, rs377357931, rs863225022, rs863225023, rs745663149, rs863225029, rs863225028, rs863225027, rs754521978, rs863224971, rs863224974, rs863224972, rs863224973, rs139643362, rs746581714, rs780594709, rs143473232, rs863225122, rs863225123, rs863225124, rs756614404, rs782726390, rs864309500, rs864309501, rs864309502, rs864309503, rs864309504, rs864309526, rs864309525, rs864309709, rs864309705, rs864622480, rs864622732, rs864622664, rs370115218, rs864622663, rs770272088, rs864622501, rs864622273, rs864622678, rs864622180, rs864622215, rs876657411, rs876657412, rs749850181, rs876661208, rs145226920, rs775019409, rs876661252, rs876661269, rs28933090, rs878855234, rs878855092, rs138226428, rs757563721, rs1057519023, rs879253751, rs879253752, rs1057519024, rs765591205, rs879253755, rs879253777, rs879253861, rs763492075, rs879253863, rs879253859, rs879253869, rs879253858, rs879253957, rs879254011, rs879253939, rs879253932, rs879254081, rs879254054, rs879254109, rs760730366, rs879253926, rs747768373, rs879254290, rs879253927, rs770501034, rs201060167, rs368775789, rs879254085, rs879253881, rs757725348, rs879253954, rs121909093, rs879254086, rs773009397, rs879253919, rs879254047, rs879254012, rs879253935, rs879254096, rs756000896, rs879253946, rs879254098, rs879253909, rs879254099, rs886037934, rs764717219, rs886039361, rs886039755, rs886041051, rs886041386, rs886041200, rs886043109, rs886043774, rs766160589, rs772320287, rs753207473, rs876661155, rs762730861, rs749890533, rs1057517987, rs1057518021, rs774799167, rs267607087, rs1057517942, rs1057518083, rs773690764, rs1057518961, rs80338930, rs375401970, rs104894624, rs1057520778, rs1060501918, rs879254210, rs1060501925, rs1060501920, rs1060501915, rs1060502215, rs1060502210, rs1060502214, rs1060502211, rs1060503423, rs1060503418, rs1060503420, rs1553259651, rs1060502838, rs538412810, rs1060500979, rs1060502839, rs1060503021, rs1060500978, rs1060503092, rs759312530, rs756461496, rs749558026, rs1060499999, rs1555057316, rs1060500001, rs778377449, rs1060501904, rs781347519, rs906563423, rs1060501002, rs1060500998, rs1555937150, rs1060501004, rs1060501000, rs1064794316, rs1064795818, rs886044113, rs749361266, rs750529207, rs776005417, rs770043095, rs1064796370, rs1064795077, rs1064793771, rs747912710, rs1064795696, rs751035912, rs1064796765, rs1064795664, rs1064793101, rs1064796495, rs1064794244, rs60290646, rs1064797314, rs1085307888, rs749320057, rs772823083, rs1131691980, rs1131691852, rs1131691657, rs1131691322, rs200435950, rs1395068713, rs1553765316, rs1555938796, rs1553265433, rs780302064, rs515726215, rs1247055716, rs1554614680, rs1553259697, rs1429859627, rs764928653, rs1555937009, rs1556300610, rs1556300621, rs572010627, rs759785462, rs1554122541, rs745790694, rs1422978230, rs771606350, rs1555800610, rs1555937020, rs1555937122, rs1555937197, rs1555937233, rs1555937270, rs759844257, rs1458700065, rs1553259663, rs765231758, rs1554122847, rs1323153568, rs773598203, rs1555937180, rs1553141686, rs1553142436, rs1553146559, rs778937659, rs1553261891, rs1553265165, rs1553265660, rs267607557, rs1553259648, rs1553265455, rs1553266024, rs267607588, rs1553259649, rs1553259703, rs1553259511, rs1553259662, rs1463859150, rs1198337036, rs1554121691, rs1064795123, rs1554338260, rs150110356, rs1554337974, rs747659617, rs1554548334, rs1554763017, rs1221804567, rs556827873, rs1554762671, rs760386662, rs1554982914, rs1327664377, rs1555373599, rs1555715869, rs1555936999, rs1555937084, rs1555937135, rs1555937194, rs1555937218, rs1555937015, rs1555937223, rs1553851490, rs753287764, rs774294963, rs991227431, rs1553174566, rs1553265755, rs763937206, rs1555937143, rs1553264668, rs57730570, rs1555381416, rs1555937168, rs113055360, rs1202430946, rs1266361856, rs530391015, rs1553143890, rs1553146551, rs1553142428, rs1064793170, rs1553144086, rs1553261855, rs1553261982, rs1553264593, rs747711259, rs1553143165, rs1553265328, rs1553265342, rs1553265647, rs1553265760, rs1553259566, rs1553259643, rs1407955132, rs1553259683, rs1553259691, rs1553265606, rs1553265924, rs1553259790, rs1222150652, rs773554464, rs1554121665, rs1554122560, rs1554120331, rs1554300952, rs1554303800, rs557327165, rs1554338262, rs1554338641, rs757417962, rs1554754342, rs1554547986, rs1345228128, rs1554753670, rs1554763035, rs779654686, rs1289139464, rs1555060614, rs1555061026, rs1358449243, rs1555223595, rs1555540896, rs1426969421, rs1555568475, rs1301129751, rs1555936989, rs1555937082, rs1241595912, rs1554120215, rs1553190285, rs1553192091, rs1553192086, rs1554107200, rs1553259707, rs1555060024, rs1555542415, rs1385904344, rs104894598, rs1553265736, rs1565929090, rs1000091588, rs1557537223, rs1557522794, rs1557524703, rs1340894696, rs1558133157, rs1017715903, rs1558115754, rs1558115970, rs267607561, rs1558154644, rs1557522849, rs1557525153, rs1557539119, rs1228406418, rs1558133435, rs1558153994, rs1558154754, rs376054085, rs1557525005, rs1557537346, rs1558154010, rs761972717, rs1561764735, rs1561765311, rs763949764, rs766728475, rs1561764925, rs1561770798, rs375431837, rs751448371, rs1270869520, rs770111639, rs751292488, rs1565115957, rs761035569, rs1183978180, rs750712213, rs1554309093, rs746455518, rs1564872328, rs752649372, rs1393673267, rs1565351898, rs749012928, rs866662905, rs1567704791, rs752192677, rs774667470, rs1564923441, rs746903992, rs1569215025, rs1569215351, rs771022595, rs1567019064, rs574861276, rs1569215061, rs1567604571, rs1569215346, rs1568710514, rs1569214985, rs1555937166, rs1564287871, rs1557525000, rs1558154149, rs1567698872, rs757937208, rs1568704829, rs138199394, rs1565869918, rs1565942358, rs1566778676, rs1563518388, rs1563518390, rs1564557037, rs1559961997, rs1559963660, rs1561764569, rs762729182, rs199615251, rs1476856429, rs1567704621, rs763758904, rs1569215443, rs1565342506, rs1571818248, rs140992482, rs1566439723, rs1182353109, rs1561770179, rs1569512576, rs869125101, rs1568708792, rs912928648, rs267607629, rs1572364243, rs1569816285, rs863224068, rs1569829894, rs1569830013, rs1569842143, rs1440006845, rs1569842714, rs1569843694, rs755065651, rs1553143852, rs1569854012, rs1569854342, rs1569868729, rs1569871830, rs375937289, rs1569889919, rs1485714154, rs1571695851, rs764992664, rs756981419, rs764816792, rs1571817146, rs1571817154, rs1571817911, rs1571817966, rs1571818312, rs1571818632, rs1456458087, rs1571818800, rs1571818819, rs1468741050, rs1571819182, rs573007540, rs1571819890, rs1571819906, rs201720099, rs1571819946, rs1571819964, rs1571819975, rs1571820143, rs1180998665, rs1571820186, rs1427063795, rs121909080, rs1580682390, rs1028404937, rs1580889866, rs147895061, rs1174949678, rs757797985, rs1580900758, rs1580901350, rs775740308, rs776090013, rs1197741113, rs1191997383, rs1554337369, rs1301948344, rs1583964560, rs1240900244, rs1583966508, rs778547659, rs1586795216, rs1586803063, rs1586803273, rs1443963090, rs1586804849, rs770658701, rs1586807387, rs1588143215, rs1589080524, rs1303837541, rs199839840, rs1590968942, rs1032796987, rs1595599240, rs1595600898, rs1555408333, rs1595163736, rs1595163851, rs1595164091, rs1594986869, rs1595430425, rs1597597534, rs1555564040, rs1597597678, rs1597597900, rs1597607532, rs11545341, rs1597608057, rs1597608086, rs1597608203, rs1597635540, rs1269225724, rs1599651549, rs1210729449, rs757771239, rs144183238, rs1599656136, rs768074428, rs753857146, rs1599662837, rs1602348530, rs1602348610, rs1602348650, rs1602348658, rs104894817, rs863224612, rs1602348786, rs1602348794, rs1602348801, rs1602348804, rs1602348820, rs1602348897, rs1602348907, rs1602348917, rs1602348981, rs876661143, rs1602349017, rs1602349021, rs1602349066, rs1602349087, rs1602349095, rs1602349112, rs1602349131, rs1602349137, rs1602349248, rs1602349264, rs1602349293, rs1602349302, rs1602349369, rs1602349383, rs1602349451, rs1602349535, rs1602349572, rs1602349603, rs1602349628, rs1602349655, rs1555937259, rs1602349716, rs1602349730, rs1064795540, rs1602349940, rs1590970875, rs1569834500, rs1569861708, rs1571685736, rs748672380, rs1232901259, rs1571818339, rs1571820401, rs143956557, rs1370011538, rs1597607514, rs1597608225, rs1597633171, rs1580917130, rs1569816194, rs1569834720, rs1569842458, rs1569842483, rs764374251, rs1569865516, rs1569882539, rs1572331707, rs1572332235, rs1572358860, rs1572359991, rs59564495, rs1572362885, rs1572363397, rs1448275854, rs1572366412, rs1572366593, rs1572367812, rs1571820100, rs1279417718, rs1580901363, rs1488999396, rs1584034430, rs1174933176, rs1586803187, rs1417699318, rs1588132672, rs775965001, rs1315010600, rs1588144707, rs1590881633, rs1590974596, rs1590997023, rs1592387932, rs1597435337, rs1597435790, rs1597446183, rs1597448762, rs1597597527, rs756689732, rs1599656507, rs1599662669, rs1555938741, rs1602496057, rs1602348726, rs1602349029, rs1602349341, rs1602350012, rs1572359505, rs113610699, rs1365042239, rs1580891465, rs1586446057, rs1580900150, rs1595597572, rs1590971080, rs776757548, rs1171462240, rs1590974546, rs1572359848, rs267607622, rs1580917136, rs1588143112, rs1599656851, rs1602485728, rs145670786, rs1602499659, rs1586807529, rs1599651726, rs2047850664, rs1588216753, rs1569842296, rs1580900473, rs1580907885, rs1583695322, rs936681187, rs1589439508, rs1590076969, rs1595597963, rs1595608413, rs373682811, rs964195568, rs1602510200, rs1602510214, rs863225270, rs1602961831, rs769429967, rs1586128143, rs1562648414, rs1228223508, rs758183257, rs1009209509, rs146342432, rs1580900970, rs1572366216, rs1190163112, rs1599652316, rs1580889913, rs1639043704, rs1639045345, rs1060501921, rs866604005, rs1639197832, rs201165591, rs1649726768, rs1651352665, rs61235244, rs1651736894, rs1670264356, rs1670288801, rs1670288858, rs121909081, rs201692212, rs1714805406, rs1714910248, rs1754097044, rs1319576439, rs1754425732, rs769986219, rs1778167481, rs1855957969, rs766951637, rs150989205, rs747130246, rs1836370529, rs1863944217, rs1413469900, rs201676628, rs1948089932, rs2047931446, rs1906290133, rs1909248652, rs2073510805, rs2079456028, rs1262031967, rs2092542190, rs2092543211, rs1602349045, rs757808220, rs2092546039, rs1639048523, rs267607640, rs1651598289, rs866895236, rs1950619177, rs1586407193, rs1011200048, rs758718584, rs145183196, rs1960348987, rs2079511684, rs1670263519, rs139052887	30958311
Hirschsprung disease	Hirschsprung Disease	rs104893891, rs76262710, rs75075748, rs75996173, rs79014735, rs77316810, rs75076352, rs76087194, rs76534745, rs76764689, rs76449634, rs78098482, rs79661516, rs104894389, rs769735757, rs267606780, rs1568823467, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869
Intracranial aneurysm	Intracranial Aneurysm	rs1594095223	30823506
Neurodevelopmental disorders	Neurodevelopmental Disorders	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059	28191889

Unknown
Disease name	Disease term	dbSNP ID	References
Anxiety disorder	Anxiety		24047446
Bipolar disorder	Bipolar Disorder		18197079
Dysmorphic features	Dysmorphic features		26749308, 27824329, 28191889, 26401017, 25363768, 28600779
Kidney failure	Kidney Failure, Chronic		31178898
Mental depression	Major Depressive Disorder	rs587778876, rs587778877	24047446