CNTNAP1 (contactin associated protein 1)

Gene

• Entrez ID: 8506
• Gene name: Contactin associated protein 1
• Gene symbol: CNTNAP1
• Synonyms: CASPR, CHN3, CNTNAP, NRXN4, P190
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for `contactin-associated protein,` includes an extracellular domain with several putat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs144659252	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs746361190	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs751050956	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs756896276	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs757901877	C>T	Pathogenic	Coding sequence variant, stop gained
rs761805324	C>T	Pathogenic	Coding sequence variant, missense variant
rs768554986	T>C	Pathogenic	Missense variant, coding sequence variant
rs778961637	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs779027563	G>C	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs786204799	->T	Pathogenic	Coding sequence variant, stop gained
rs786204800	GATA>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs878853221	G>A	Pathogenic	Coding sequence variant, stop gained
rs1131691767	A>C	Pathogenic	Splice acceptor variant
rs1555642784	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1567969825	T>C	Pathogenic	Missense variant, coding sequence variant
rs1567973088	C>T	Pathogenic	Coding sequence variant, stop gained
rs1567973091	G>A	Pathogenic	Coding sequence variant, stop gained
rs1597807901	G>A	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021803	hsa-miR-132-3p	Microarray	17612493
MIRT901725	hsa-miR-1	CLIP-seq
MIRT901726	hsa-miR-1255a	CLIP-seq
MIRT901727	hsa-miR-1255b	CLIP-seq
MIRT901728	hsa-miR-1275	CLIP-seq
MIRT901729	hsa-miR-15a	CLIP-seq
MIRT901730	hsa-miR-15b	CLIP-seq
MIRT901731	hsa-miR-16	CLIP-seq
MIRT901732	hsa-miR-195	CLIP-seq
MIRT901733	hsa-miR-206	CLIP-seq
MIRT901734	hsa-miR-28-5p	CLIP-seq
MIRT901735	hsa-miR-3139	CLIP-seq
MIRT901736	hsa-miR-424	CLIP-seq
MIRT901737	hsa-miR-4433	CLIP-seq
MIRT901738	hsa-miR-4459	CLIP-seq
MIRT901739	hsa-miR-4487	CLIP-seq
MIRT901740	hsa-miR-4515	CLIP-seq
MIRT901741	hsa-miR-4524	CLIP-seq
MIRT901742	hsa-miR-4525	CLIP-seq
MIRT901743	hsa-miR-4665-5p	CLIP-seq
MIRT901744	hsa-miR-4723-5p	CLIP-seq
MIRT901745	hsa-miR-4768-3p	CLIP-seq
MIRT901746	hsa-miR-4782-5p	CLIP-seq
MIRT901747	hsa-miR-497	CLIP-seq
MIRT901748	hsa-miR-503	CLIP-seq
MIRT901749	hsa-miR-613	CLIP-seq
MIRT901750	hsa-miR-625	CLIP-seq
MIRT901751	hsa-miR-637	CLIP-seq
MIRT901752	hsa-miR-646	CLIP-seq
MIRT901753	hsa-miR-708	CLIP-seq
MIRT1967473	hsa-miR-1207-5p	CLIP-seq
MIRT1967474	hsa-miR-4763-3p	CLIP-seq
MIRT1967475	hsa-miR-486-3p	CLIP-seq
MIRT2203193	hsa-miR-1251	CLIP-seq
MIRT2203194	hsa-miR-3173-5p	CLIP-seq
MIRT2203195	hsa-miR-3976	CLIP-seq
MIRT2203196	hsa-miR-4684-5p	CLIP-seq
MIRT2203197	hsa-miR-4768-5p	CLIP-seq
MIRT2203198	hsa-miR-4793-3p	CLIP-seq
MIRT2203199	hsa-miR-518d-5p	CLIP-seq
MIRT2203200	hsa-miR-519b-5p	CLIP-seq
MIRT2203201	hsa-miR-519c-5p	CLIP-seq
MIRT2203202	hsa-miR-520c-5p	CLIP-seq
MIRT2203203	hsa-miR-526a	CLIP-seq
MIRT2386323	hsa-miR-4436a	CLIP-seq
MIRT2386324	hsa-miR-4700-3p	CLIP-seq
MIRT2427392	hsa-miR-1207-3p	CLIP-seq
MIRT2427393	hsa-miR-1273f	CLIP-seq
MIRT2427394	hsa-miR-2277-3p	CLIP-seq
MIRT2427395	hsa-miR-4756-3p	CLIP-seq
MIRT901752	hsa-miR-646	CLIP-seq
MIRT2506151	hsa-miR-3173-3p	CLIP-seq
MIRT2506152	hsa-miR-3177-5p	CLIP-seq
MIRT2506153	hsa-miR-4779	CLIP-seq
MIRT2506154	hsa-miR-593	CLIP-seq
MIRT2506152	hsa-miR-3177-5p	CLIP-seq
MIRT2506154	hsa-miR-593	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002175	Process	Protein localization to paranode region of axon	ISS
GO:0005515	Function	Protein binding	IPI	17474147
GO:0005887	Component	Integral component of plasma membrane	TAS	9118959
GO:0007010	Process	Cytoskeleton organization	ISS
GO:0007155	Process	Cell adhesion	IEA
GO:0007165	Process	Signal transduction	TAS	9118959
GO:0016021	Component	Integral component of membrane	ISS
GO:0017124	Function	SH3 domain binding	ISS
GO:0019227	Process	Neuronal action potential propagation	ISS
GO:0022010	Process	Central nervous system myelination	IMP	28374019
GO:0022011	Process	Myelination in peripheral nervous system	IMP	24319099, 27818385, 28374019
GO:0030913	Process	Paranodal junction assembly	IMP	27818385
GO:0030913	Process	Paranodal junction assembly	ISS
GO:0033010	Component	Paranodal junction	IEA
GO:0033270	Component	Paranode region of axon	ISS
GO:0038023	Function	Signaling receptor activity	TAS	9118959
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0048812	Process	Neuron projection morphogenesis	IMP	24319099, 27818385
GO:0048812	Process	Neuron projection morphogenesis	ISS
GO:0050884	Process	Neuromuscular process controlling posture	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0071205	Process	Protein localization to juxtaparanode region of axon	ISS

Other IDs

• MIM: 602346
• HGNC: 8011
• e!Ensembl: ENSG00000108797

Protein

• UniProt ID: P78357
• Protein name: Contactin-associated protein 1 (Caspr) (Caspr1) (Neurexin IV) (Neurexin-4) (p190)
• Protein function: Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the par
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00754	F5_F8_type_C	37 → 165	F5/8 type C domain	Domain
  PF02210	Laminin_G_2	203 → 332	Laminin G domain	Domain
  PF02210	Laminin_G_2	389 → 515	Laminin G domain	Domain
  PF02210	Laminin_G_2	813 → 939	Laminin G domain	Domain
  PF02210	Laminin_G_2	1088 → 1218	Laminin G domain	Domain

• Sequence:

  MMHLRLFCILLAAVSGAEGWGYYGCDEELVGPLYARSLGASSYYSLLTAPRFARLHGISG
  WSPRIGDPNPWLQIDLMKKHRIRAVATQGSFNSWDWVTRYMLLYGDRVDSWTPFYQRGHN
  STFFGNVNESAVVRHDLHFHFTARYIRIVPLAWNPRGKIGLRLGLYGCPYKADILYFDGD
  DAISYRFPRGVSRSLWDVFAFSFKTEEKDGLLLHAEGAQGDYVTLELEGAHLLLHMSLGS
  SPIQPRPGHTTVSAGGVLNDQHWHYVRVDRFGRDVNFTLDGYVQRFILNGDFERLNLDTE
  MFIGGLVGAARKNLAYRHNFRGCIENVIFNRVNIADLAVRRHSRITFEGKVAFRCLDPVP
  HPINFGGPHNFVQVPGFPRRGRLAVSFRFRTWDLTGLLLFSRLGDGLGHVELTLSEGQVN
  VSIAQSGRKKLQFAAGYRLNDGFWHEVNFVAQENHAVISIDDVEGAEVRVSYPLLIRTGT
  SYFFGGCPKPASRWDCHSNQTAFHGCMELLKVDGQLVNLTLVEGRRLGFYAEVLFDTCGI
  TDRCSPNMCEHDGRCYQSWDDFICYCELTGYKGETCHTPLYKESCEAYRLSGKTSGNFTI
  DPDGSGPLKPFVVYCDIRENRAWTVVRHDRLWTTRVTGSSMERPFLGAIQYWNASWEEVS
  ALANASQHCEQWIEFSCYNSRLLNTAGGYPYSFWIGRNEEQHFYWGGSQPGIQRCACGLD
  RSCVDPALYCNCDADQPQWRTDKGLLTFVDHLPVTQVVIGDTNRSTSEAQFFLRPLRCYG
  DRNSWNTISFHTGAALRFPPIRANHSLDVSFYFRTSAPSGVFLENMGGPYCQWRRPYVRV
  ELNTSRDVVFAFDVGNGDENLTVHSDDFEFNDDEWHLVRAEINVKQARLRVDHRPWVLRP
  MPLQTYIWMEYDQPLYVGSAELKRRPFVGCLRAMRLNGVTLNLEGRANASEGTSPNCTGH
  CAHPRLPCFHGGRCVERYSYYTCDCDLTAFDGPYCNHDIGGFFEPGTWMRYNLQSALRSA
  AREFSHMLSRPVPGYEPGYIPGYDTPGYVPGYHGPGYRLPDYPRPGRPVPGYRGPVYNVT
  GEEVSFSFSTSSAPAVLLYVSSFVRDYMAVLIKDDGTLQLRYQLGTSPYVYQLTTRPVTD
  GQPHSINITRVYRNLFIQVDYFPLTEQKFSLLVDSQLDSPKALYLGRVMETGVIDPEIQR
  YNTPGFSGCLSGVRFNNVAPLKTHFRTPRPMTAELAEALRVQGELSESNCGAMPRLVSEV
  PPELDPWYLPPDFPYYHDEGWVAILLGFLVAFLLLGLVGMLVLFYLQNHRYKGSYHTNEP
  KAAHEYHPGSKPPLPTSGPAQVPTPTAAPNQAPASAPAPAPTPAPAPGPRDQNLPQILEE
  SRSE

• Sequence length: 1384

Pathways

KEGG:

Cell adhesion molecules

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29059683
Congenital muscular dystrophy	Congenital muscular dystrophy (disorder)	rs1565627745, rs774985604, rs1565629479, rs121913572, rs121913575, rs121913576, rs58932704, rs58912633, rs121912495, rs121912496, rs60458016, rs387906881, rs750764003, rs387907068, rs786205117, rs387907069, rs786205118, rs267607600, rs61672878, rs57629361, rs61444459, rs60872029, rs587780362, rs141554661, rs864309525, rs371751084, rs914395925, rs1060505038, rs766046008, rs1060505039, rs750781027, rs761612652, rs1060505040, rs749383757, rs776548207, rs1554269966, rs373091820, rs1553261891, rs1474512248, rs1333100080, rs1246940477, rs1554320168, rs372328960, rs1217190017, rs750756707, rs1555894289, rs1296761337, rs1562530132, rs1569054508, rs1565622052, rs1415944134, rs1565620275, rs752436924, rs1569054086, rs1583149141, rs17854600, rs757369551, rs755438542, rs1872274494, rs1874440714
Distal arthrogryposis	ARTHROGRYPOSIS, DISTAL, TYPE 1	rs121434638, rs104894127, rs104894129, rs137853305, rs137853306, rs199476153, rs199476147, rs121913619, rs879255230, rs387906657, rs387906658, rs199474721, rs587776917, rs587776918, rs587776919, rs587776920, rs587777129, rs587777130, rs587777131, rs199476146, rs606231471, rs370167241, rs765430577, rs878853117, rs878853118, rs1555621138, rs149459910, rs1553566820, rs1553567411, rs1553567937, rs1341894581, rs201987709, rs1554658995, rs1554289078, rs762979130, rs1554659746, rs1555242493, rs1555769818, rs1567973091, rs1563929039, rs1563929143, rs1350968647, rs1356994386, rs1229171141, rs1567559027, rs1563929383, rs113612402, rs1465836003, rs1597490381, rs1190799930, rs767987856, rs1587956195, rs1281970248, rs1575076514, rs1597482824, rs1825151618
Hemangioma	Hemangioma	rs119475040, rs121917766	27668699
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546	27668699
Lethal congenital contracture syndrome	LETHAL CONGENITAL CONTRACTURE SYNDROME 7	rs121908315, rs386833693, rs121434407, rs1565859132, rs786204798, rs786204799, rs786204800, rs749355583, rs793888524, rs793888525, rs751050956, rs1555642784, rs746361190, rs886041056, rs764239923, rs779432560, rs539703340, rs886041057, rs368085516, rs750803388, rs775011495, rs144659252, rs1595795343, rs1595795307, rs755420151	27782105, 27668699, 28374019, 24319099, 28254648
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
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151	27668699
Neuropathy	NEUROPATHY, CONGENITAL HYPOMYELINATING, 3	rs121913593, rs121913595, rs751050956, rs878853221, rs768554986, rs1553259568, rs1567973091, rs1560046845, rs1567969825, rs1567973088, rs756896276	28374019, 29511323, 27818385, 27668699
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575	27668699
Spinal muscular atrophy	Spinal Muscular Atrophy	rs104893922, rs1554066397, rs77804083, rs104893930, rs104893927, rs104893935, rs387906738, rs398123028, rs371707778, rs398123030, rs587780564, rs713993043, rs727505393, rs797044855, rs863223361, rs797045412, rs869320621, rs879254085, rs1057518083, rs1064795760, rs1131691347, rs1554082383, rs1554338262, rs1561503058, rs1564061982, rs141760116, rs1217001154, rs1561498701, rs77668214, rs1587671674, rs972425138, rs1595599240, rs1587668077, rs1587668748, rs1587668769, rs1263279945, rs1889019962

Unknown
Disease name	Disease term	dbSNP ID	References
Atrophy of corpus callosum	Atrophy of corpus callosum		27668699
Bulbar palsy	Bulbar palsy		27668699
Cerebellar atrophy	Cerebellar atrophy		27668699
Cerebral atrophy	Cerebral atrophy
Cerebral cortical atrophy	Cerebral cortical atrophy		27668699
Congenital epicanthus	Congenital Epicanthus
Dolichocephaly	Long narrow head		27668699
Dysphagia	Deglutition Disorders		27668699
Frontal bossing	Frontal bossing		27668699
Gastroesophageal reflux disease	Gastroesophageal reflux disease
High palate	Byzanthine arch palate
Hypomyelination neuropathy-arthrogryposis syndrome	Hypomyelination neuropathy-arthrogryposis syndrome
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Mental depression	Major Depressive Disorder	rs587778876, rs587778877	27777418
Micrognathism	Micrognathism
Oropharyngeal dysphagia	Oropharyngeal Dysphagia
Pena shokeir syndrome	Pena-Shokeir syndrome type I
Ptosis	Blepharoptosis, Ptosis	rs139920573	27668699