TSEN2 (tRNA splicing endonuclease subunit 2)

Gene

• Entrez ID: 80746
• Gene name: TRNA splicing endonuclease subunit 2
• Gene symbol: TSEN2
• Synonyms: PCH2B, SEN2, SEN2L
• Chromosome: 3
• Chromosome location: 3p25.2
• Summary: This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseu

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113981920	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Non coding transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant
rs113994149	A>G	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs146117200	G>A,C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs730880294	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant, non coding transcript variant
rs755246924	AG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs797046051	A>G,T	Likely-pathogenic	Non coding transcript variant, downstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs797046052	CAA>-	Likely-pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886037738	GTAAG>-	Pathogenic	Splice donor variant, intron variant, non coding transcript variant, coding sequence variant
rs886037739	G>A	Pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs1477347690	A>G	Likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT043908	hsa-miR-378a-3p	CLASH	23622248
MIRT1458434	hsa-miR-3065-5p	CLIP-seq
MIRT1458435	hsa-miR-1184	CLIP-seq
MIRT1458436	hsa-miR-1205	CLIP-seq
MIRT1458437	hsa-miR-1270	CLIP-seq
MIRT1458438	hsa-miR-185	CLIP-seq
MIRT1458439	hsa-miR-1910	CLIP-seq
MIRT1458440	hsa-miR-3158-5p	CLIP-seq
MIRT1458441	hsa-miR-4306	CLIP-seq
MIRT1458442	hsa-miR-4531	CLIP-seq
MIRT1458443	hsa-miR-4644	CLIP-seq
MIRT1458444	hsa-miR-620	CLIP-seq
MIRT1458445	hsa-miR-877	CLIP-seq
MIRT1458446	hsa-miR-103a	CLIP-seq
MIRT1458447	hsa-miR-107	CLIP-seq
MIRT1458448	hsa-miR-1200	CLIP-seq
MIRT1458449	hsa-miR-15a	CLIP-seq
MIRT1458450	hsa-miR-15b	CLIP-seq
MIRT1458451	hsa-miR-16	CLIP-seq
MIRT1458452	hsa-miR-1912	CLIP-seq
MIRT1458453	hsa-miR-195	CLIP-seq
MIRT1458454	hsa-miR-224	CLIP-seq
MIRT1458455	hsa-miR-3074-5p	CLIP-seq
MIRT1458456	hsa-miR-3130-5p	CLIP-seq
MIRT1458457	hsa-miR-331-3p	CLIP-seq
MIRT1458458	hsa-miR-338-3p	CLIP-seq
MIRT1458459	hsa-miR-383	CLIP-seq
MIRT1458460	hsa-miR-3908	CLIP-seq
MIRT1458461	hsa-miR-424	CLIP-seq
MIRT1458462	hsa-miR-4275	CLIP-seq
MIRT1458463	hsa-miR-4292	CLIP-seq
MIRT1458464	hsa-miR-4324	CLIP-seq
MIRT1458465	hsa-miR-4482	CLIP-seq
MIRT1458466	hsa-miR-4524	CLIP-seq
MIRT1458467	hsa-miR-4528	CLIP-seq
MIRT1458468	hsa-miR-4530	CLIP-seq
MIRT1458469	hsa-miR-4646-5p	CLIP-seq
MIRT1458470	hsa-miR-4649-3p	CLIP-seq
MIRT1458471	hsa-miR-4677-3p	CLIP-seq
MIRT1458472	hsa-miR-4747-5p	CLIP-seq
MIRT1458473	hsa-miR-4762-5p	CLIP-seq
MIRT1458474	hsa-miR-497	CLIP-seq
MIRT1458475	hsa-miR-503	CLIP-seq
MIRT1458476	hsa-miR-544b	CLIP-seq
MIRT1458477	hsa-miR-561	CLIP-seq
MIRT1458478	hsa-miR-580	CLIP-seq
MIRT1458479	hsa-miR-646	CLIP-seq
MIRT1458480	hsa-miR-891a	CLIP-seq
MIRT1458435	hsa-miR-1184	CLIP-seq
MIRT1458436	hsa-miR-1205	CLIP-seq
MIRT1458439	hsa-miR-1910	CLIP-seq
MIRT2358419	hsa-miR-3123	CLIP-seq
MIRT2358420	hsa-miR-3126-5p	CLIP-seq
MIRT1458440	hsa-miR-3158-5p	CLIP-seq
MIRT2358421	hsa-miR-4419a	CLIP-seq
MIRT2358422	hsa-miR-4510	CLIP-seq
MIRT2358423	hsa-miR-568	CLIP-seq
MIRT2396402	hsa-miR-4279	CLIP-seq
MIRT2396403	hsa-miR-4287	CLIP-seq
MIRT2396404	hsa-miR-4685-3p	CLIP-seq
MIRT2396405	hsa-miR-4780	CLIP-seq
MIRT2396406	hsa-miR-581	CLIP-seq
MIRT2396407	hsa-miR-623	CLIP-seq
MIRT2462471	hsa-miR-4776-3p	CLIP-seq
MIRT2462472	hsa-miR-4795-3p	CLIP-seq
MIRT1458435	hsa-miR-1184	CLIP-seq
MIRT1458436	hsa-miR-1205	CLIP-seq
MIRT1458437	hsa-miR-1270	CLIP-seq
MIRT2651643	hsa-miR-1827	CLIP-seq
MIRT1458438	hsa-miR-185	CLIP-seq
MIRT1458439	hsa-miR-1910	CLIP-seq
MIRT2651644	hsa-miR-2467-5p	CLIP-seq
MIRT1458440	hsa-miR-3158-5p	CLIP-seq
MIRT2396402	hsa-miR-4279	CLIP-seq
MIRT1458441	hsa-miR-4306	CLIP-seq
MIRT2651645	hsa-miR-4459	CLIP-seq
MIRT1458442	hsa-miR-4531	CLIP-seq
MIRT1458443	hsa-miR-4644	CLIP-seq
MIRT2651646	hsa-miR-4695-5p	CLIP-seq
MIRT2651647	hsa-miR-4722-5p	CLIP-seq
MIRT2651648	hsa-miR-4782-5p	CLIP-seq
MIRT1458444	hsa-miR-620	CLIP-seq
MIRT2651649	hsa-miR-760	CLIP-seq
MIRT1458445	hsa-miR-877	CLIP-seq
MIRT2651650	hsa-miR-940	CLIP-seq
MIRT1458435	hsa-miR-1184	CLIP-seq
MIRT1458436	hsa-miR-1205	CLIP-seq
MIRT1458437	hsa-miR-1270	CLIP-seq
MIRT2651643	hsa-miR-1827	CLIP-seq
MIRT1458438	hsa-miR-185	CLIP-seq
MIRT2651644	hsa-miR-2467-5p	CLIP-seq
MIRT1458440	hsa-miR-3158-5p	CLIP-seq
MIRT1458441	hsa-miR-4306	CLIP-seq
MIRT2651645	hsa-miR-4459	CLIP-seq
MIRT1458442	hsa-miR-4531	CLIP-seq
MIRT1458443	hsa-miR-4644	CLIP-seq
MIRT2651646	hsa-miR-4695-5p	CLIP-seq
MIRT2651647	hsa-miR-4722-5p	CLIP-seq
MIRT2651648	hsa-miR-4782-5p	CLIP-seq
MIRT1458444	hsa-miR-620	CLIP-seq
MIRT2651649	hsa-miR-760	CLIP-seq
MIRT1458445	hsa-miR-877	CLIP-seq
MIRT2651650	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000213	Function	TRNA-intron endonuclease activity	IBA	21873635
GO:0000214	Component	TRNA-intron endonuclease complex	IBA	21873635
GO:0000379	Process	TRNA-type intron splice site recognition and cleavage	IBA	21873635
GO:0003676	Function	Nucleic acid binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006388	Process	TRNA splicing, via endonucleolytic cleavage and ligation	IDA	17495927
GO:0006388	Process	TRNA splicing, via endonucleolytic cleavage and ligation	TAS
GO:0006397	Process	MRNA processing	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0090502	Process	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA

Other IDs

• MIM: 608753
• HGNC: 28422
• e!Ensembl: ENSG00000154743

Protein

• UniProt ID: Q8NCE0
• Protein name: tRNA-splicing endonuclease subunit Sen2 (EC 4.6.1.16) (tRNA-intron endonuclease Sen2) (HsSen2)
• Protein function: Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intr
• PDB: 7UXA, 7ZRZ, 8HMY, 8HMZ, 8ISS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02778	tRNA_int_endo_N	265 → 329	tRNA intron endonuclease, N-terminal domain	Domain
  PF01974	tRNA_int_endo	339 → 431	tRNA intron endonuclease, catalytic C-terminal domain	Domain

• Sequence:

  MAEAVFHAPKRKRRVYETYESPLPIPFGQDHGPLKEFKIFRAEMINNNVIVRNAEDIEQL
  YGKGYFGKGILSRSRPSFTISDPKLVAKWKDMKTNMPIITSKRYQHSVEWAAELMRRQGQ
  DESTVRRILKDYTKPLEHPPVKRNEEAQVHDKLNSGMVSNMEGTAGGERPSVVNGDSGKS
  GGVGDPREPLGCLQEGSGCHPTTESFEKSVREDASPLPHVCCCKQDALILQRGLHHEDGS
  QHIGLLHPGDRGPDHEYVLVEEAECAMSEREAAPNEELVQRNRLICRRNPYRIFEYLQLS
  LEEAFFLVYALGCLSIYYEKEPLTIVKLWKAFTVVQPTFRTTYMAYHYFRSKGWVPKVGL
  KYGTDLLLYRKGPPFYHASYSVIIELVDDHFEGSLRRPLSWKSLAALSRVSVNVSKELML
  CYLIKPSTMTDKEMESPECMKRIKVQEVILSRWVSSRERSDQDDL

• Sequence length: 465

Pathways

Reactome:

tRNA processing in the nucleus

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Mental retardation	Profound Mental Retardation, Mental deficiency, 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	18711368
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	18711368
Microlissencephaly	Microlissencephaly	rs771116788	18711368
Pontoneocerebellar hypoplasia	Pontocerebellar Hypoplasia Type 2A, Pontocerebellar Hypoplasia Type 2B, Pontocerebellar Hypoplasia Type 2, Congenital pontocerebellar hypoplasia	rs63749985, rs113994152, rs113994153, rs113994154, rs113994150, rs137853063, rs267607036, rs267607035, rs886037629, rs147391618, rs141138948, rs672601331, rs387907196, rs672601332, rs397515426, rs398122918, rs587780333, rs374550999, rs587777391, rs587777392, rs587777393, rs587777394, rs587777395, rs587777465, rs587777466, rs587777616, rs606231285, rs587784476, rs886037738, rs886037739, rs730880294, rs886037740, rs730882145, rs746260871, rs796052019, rs371295780, rs772731615, rs797046052, rs797046051, rs756696262, rs797045567, rs797046057, rs797046054, rs797046055, rs863224183, rs199835443, rs863224182, rs863224186, rs757743894, rs772887102, rs774923951, rs875989844, rs879253779, rs879253780, rs776969714, rs886041639, rs886041316, rs1057518749, rs1057518750, rs1057518887, rs1057519294, rs1057519296, rs1553730885, rs1570621473, rs371848318, rs777030573, rs758153898, rs1064795060, rs777942571, rs1554203400, rs779282547, rs1553230375, rs765088174, rs759922477, rs1554093168, rs755246924, rs1477347690, rs774157225, rs1420939606, rs781417096, rs780563835, rs772263867, rs139632595, rs768997239, rs200594402, rs1160669103, rs759331139, rs1566713184, rs753591864, rs769473411, rs1566696845, rs201467485, rs1258569046, rs1598480419, rs1309003036, rs759420180, rs199728745, rs773838753, rs1582712331, rs772146380, rs1223645705, rs774056037, rs1570621555, rs778263701, rs1557531984, rs750266350, rs1570626350, rs1584071201, rs1582576986, rs1246937494, rs1650621772, rs760433806, rs1447478732, rs1472685858, rs1712612585, rs1256144022, rs774755297, rs752086581, rs1887100431, rs762979613, rs774877872, rs201386427, rs199862050	18711368, 20952379, 23562994, 20952379

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebellar atrophy	Cerebellar atrophy
Cerebellar hypoplasia	Cerebellar Hypoplasia
Congenital microcephaly	Severe Congenital Microcephaly		18711368
Dysphagia	Deglutition Disorders		18711368
Esophageal dysphagia	Esophageal Dysphagia		18711368
Extrapyramidal dyskinesia	Extrapyramidal dyskinesia
Hemeralopia	Hemeralopia		18711368
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Movement disorders	Movement Disorders		18711368
Oropharyngeal dysphagia	Oropharyngeal Dysphagia		18711368
Status marmoratus	Etat Marbre		18711368
Vision disability	Vision Disability		18711368