BRAT1 (BRCA1 associated ATM activator 1)

Gene

• Entrez ID: 221927
• Gene name: BRCA1 associated ATM activator 1
• Gene symbol: BRAT1
• Synonyms (NCBI Gene): BAAT1, C7orf27, NEDCAS, RMFSL
• Disease Acronyms (UniProt): NEDCAS, RMFSL
• Chromosome: 7
• Chromosome location: 7p22.3
• Summary: The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signall

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61729932	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 3 prime UTR variant, missense variant, coding sequence variant
rs61753094	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs140833277	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant
rs145833100	C>T	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs147005619	T>A	Likely-pathogenic	Intron variant, genic upstream transcript variant, splice acceptor variant
rs147745609	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs200502048	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	3 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs727505363	A>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs727505364	GA>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs727505365	C>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs730880324	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs749240175	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs754341393	G>-,GG	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs756489141	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs759216914	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, intron variant
rs763527391	ACAA>-	Likely-pathogenic, uncertain-significance	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant
rs773772842	CA>-	Pathogenic	Inframe indel, coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained, upstream transcript variant
rs776913277	->T	Pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs794729222	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, stop gained
rs869312931	C>G	Pathogenic	Genic upstream transcript variant, splice donor variant
rs886039312	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064796877	C>T	Pathogenic	Coding sequence variant, splice acceptor variant, synonymous variant
rs1085307958	A>G	Pathogenic, likely-pathogenic	Genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1131691679	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs1224820591	TCCCCACCACCGTACCGTGGGGCTGGAGCCGGGGCTCTCGA>-	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, splice donor variant, non coding transcript variant, coding sequence variant, intron variant
rs1450676893	G>A	Likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, intron variant
rs1554293869	CGAGGGCGGAGTCCCTCACCTC>GA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554295159	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, stop gained
rs1554296088	->ATCTTCTC	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1554297097	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1562596651	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016937	hsa-miR-335-5p	Microarray	18185580
MIRT051289	hsa-miR-16-5p	CLASH	23622248
MIRT050026	hsa-miR-27a-3p	CLASH	23622248
MIRT046452	hsa-miR-15b-5p	CLASH	23622248
MIRT046230	hsa-miR-27b-3p	CLASH	23622248
MIRT041857	hsa-miR-484	CLASH	23622248
MIRT038295	hsa-miR-130b-5p	CLASH	23622248
MIRT823987	hsa-miR-1233	CLIP-seq
MIRT823988	hsa-miR-1587	CLIP-seq
MIRT823989	hsa-miR-186	CLIP-seq
MIRT823990	hsa-miR-224	CLIP-seq
MIRT823991	hsa-miR-3133	CLIP-seq
MIRT823992	hsa-miR-3135b	CLIP-seq
MIRT823993	hsa-miR-3167	CLIP-seq
MIRT823994	hsa-miR-3652	CLIP-seq
MIRT823995	hsa-miR-374c	CLIP-seq
MIRT823996	hsa-miR-378g	CLIP-seq
MIRT823997	hsa-miR-4283	CLIP-seq
MIRT823998	hsa-miR-4292	CLIP-seq
MIRT823999	hsa-miR-4318	CLIP-seq
MIRT824000	hsa-miR-4430	CLIP-seq
MIRT824001	hsa-miR-4489	CLIP-seq
MIRT824002	hsa-miR-4492	CLIP-seq
MIRT824003	hsa-miR-4498	CLIP-seq
MIRT824004	hsa-miR-4505	CLIP-seq
MIRT824005	hsa-miR-4648	CLIP-seq
MIRT824006	hsa-miR-4654	CLIP-seq
MIRT824007	hsa-miR-4656	CLIP-seq
MIRT824008	hsa-miR-4675	CLIP-seq
MIRT824009	hsa-miR-4729	CLIP-seq
MIRT824010	hsa-miR-4741	CLIP-seq
MIRT824011	hsa-miR-4769-5p	CLIP-seq
MIRT824012	hsa-miR-499-3p	CLIP-seq
MIRT824013	hsa-miR-499a-3p	CLIP-seq
MIRT824014	hsa-miR-548g	CLIP-seq
MIRT824015	hsa-miR-548u	CLIP-seq
MIRT824016	hsa-miR-655	CLIP-seq
MIRT824017	hsa-miR-762	CLIP-seq
MIRT824018	hsa-miR-876-5p	CLIP-seq
MIRT1545787	hsa-miR-133a	CLIP-seq
MIRT1545788	hsa-miR-133b	CLIP-seq
MIRT1545789	hsa-miR-3907	CLIP-seq
MIRT1545790	hsa-miR-4287	CLIP-seq
MIRT1545791	hsa-miR-4685-3p	CLIP-seq
MIRT1545792	hsa-miR-4780	CLIP-seq
MIRT1545793	hsa-miR-623	CLIP-seq
MIRT823990	hsa-miR-224	CLIP-seq
MIRT823995	hsa-miR-374c	CLIP-seq
MIRT824012	hsa-miR-499-3p	CLIP-seq
MIRT824013	hsa-miR-499a-3p	CLIP-seq
MIRT824016	hsa-miR-655	CLIP-seq
MIRT823990	hsa-miR-224	CLIP-seq
MIRT823993	hsa-miR-3167	CLIP-seq
MIRT823995	hsa-miR-374c	CLIP-seq
MIRT1545789	hsa-miR-3907	CLIP-seq
MIRT823999	hsa-miR-4318	CLIP-seq
MIRT824005	hsa-miR-4648	CLIP-seq
MIRT824006	hsa-miR-4654	CLIP-seq
MIRT824011	hsa-miR-4769-5p	CLIP-seq
MIRT824012	hsa-miR-499-3p	CLIP-seq
MIRT824013	hsa-miR-499a-3p	CLIP-seq
MIRT824014	hsa-miR-548g	CLIP-seq
MIRT824016	hsa-miR-655	CLIP-seq
MIRT824018	hsa-miR-876-5p	CLIP-seq
MIRT1545789	hsa-miR-3907	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001934	Process	Positive regulation of protein phosphorylation	IBA	21873635
GO:0001934	Process	Positive regulation of protein phosphorylation	IMP	22977523
GO:0005515	Function	Protein binding	IPI	16452482, 22977523, 25631046, 25657994, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	16452482, 25631046
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	25631046
GO:0006006	Process	Glucose metabolic process	IMP	25070371
GO:0006915	Process	Apoptotic process	IMP	25070371
GO:0006974	Process	Cellular response to DNA damage stimulus	IBA	21873635
GO:0006974	Process	Cellular response to DNA damage stimulus	IMP	25631046
GO:0008283	Process	Cell population proliferation	IMP	25070371
GO:0010212	Process	Response to ionizing radiation	IMP	16452482
GO:0016020	Component	Membrane	HDA	19946888
GO:0016477	Process	Cell migration	IMP	25070371
GO:0030307	Process	Positive regulation of cell growth	IMP	25070371
GO:0051646	Process	Mitochondrion localization	IMP	25070371

Other IDs

• MIM: 614506
• HGNC: 21701
• e!Ensembl: ENSG00000106009

Protein

• UniProt ID: Q6PJG6
• Protein name: Integrator complex assembly factor BRAT1 (BRCA1-associated ATM activator 1) (BRCA1-associated protein required for ATM activation protein 1)
• Protein function: Component of a multiprotein complex required for the assembly of the RNA endonuclease module of the integrator complex (PubMed:39032489, PubMed:39032490). Associates with INTS9 and INTS11 in the cytoplasm and blocks the active site of INTS11 to
• PDB: 4IFI, 8R22, 8R23, 8R2D, 8UIB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02985	HEAT	501 → 531	HEAT repeat	Repeat
  PF02985	HEAT	546 → 576	HEAT repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:16452482}.
• Sequence:

  MDPECAQLLPALCAVLVDPRQPVADDTCLEKLLDWFKTVTEGESSVVLLQEHPCLVELLS
  HVLKVQDLSSGVLSFSLRLAGTFAAQENCFQYLQQGELLPGLFGEPGPLGRATWAVPTVR
  SGWIQGLRSLAQHPSALRFLADHGAVDTIFSLQGDSSLFVASAASQLLVHVLALSMRGGA
  EGQPCLPGGDWPACAQKIMDHVEESLCSAATPKVTQALNVLTTTFGRCQSPWTEALWVRL
  SPRVACLLERDPIPAAHSFVDLLLCVARSPVFSSSDGSLWETVARALSCLGPTHMGPLAL
  GILKLEHCPQALRTQAFQVLLQPLACVLKATVQAPGPPGLLDGTADDATTVDTLLASKSS
  CAGLLCRTLAHLEELQPLPQRPSPWPQASLLGATVTVLRLCDGSAAPASSVGGHLCGTLA
  GCVRVQRAALDFLGTLSQGTGPQELVTQALAVLLECLESPGSSPTVLKKAFQATLRWLLS
  SPKTPGCSDLGPLIPQFLRELFPVLQKRLCHPCWEVRDSALEFLTQLSRHWGGQADFRCA
  LLASEVPQLALQLLQDPESYVRASAVTAMGQLSSQGLHAPTSPEHAEARQSLFLELLHIL
  SVDSEGFPRRAVMQVFTEWLRDGHADAAQDTEQFVATVLQAASRDLDWEVRAQGLELALV
  FLGQTLGPPRTHCPYAVALPEVAPAQPLTEALRALCHVGLFDFAFCALFDCDRPVAQKSC
  DLLLFLRDKIASYSSLREARGSPNTASAEATLPRWRAGEQAQPPGDQEPEAVLAMLRSLD
  LEGLRSTLAESSDHVEKSPQSLLQDMLATGGFLQGDEADCY

• Sequence length: 821

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
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
Dysautonomia	Dysautonomia	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	rs730880324, rs869312931, rs776913277, rs763527391, rs1085307958, rs200502048, rs749240175, rs1564046794	27282546, 26483087, 26494257
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease term	Disease name	Evidence	References	Source
Encephalopathy	neonatal-onset encephalopathy with rigidity and seizures			GenCC
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	neurodevelopmental disorder with cerebellar atrophy and with or without seizures			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Apnea	Associate	33040300
Apraxias	Associate	28635423, 35360849
Ataxia	Associate	35360849
Atrophy	Associate	26947546
Bradycardia	Associate	33040300
Brain Diseases	Associate	26947546, 29997391, 30786674, 33040300, 36599696
Central Nervous System Diseases	Associate	30786674
Cerebellar Ataxia	Associate	28635423
Cerebellar Diseases	Associate	28635423, 33040300, 35360849
Death	Associate	26947546, 31868227, 35360849
Developmental Disabilities	Associate	28635423, 33040300
Drug Resistant Epilepsy	Associate	35360849
Epilepsy	Associate	34153113
Esotropia	Associate	28635423
Head and Neck Neoplasms	Associate	33040300
Heredodegenerative Disorders Nervous System	Associate	36028512
Intellectual Disability	Associate	28635423, 35360849
Kozlowski Tsuruta Taki syndrome	Associate	37344571
Microcephaly	Associate	28635423, 30786674, 31868227, 35360849
Multifocal Choroiditis	Associate	23035047, 26947546, 28635423, 31868227, 37344571
Muscle Hypertonia	Associate	31868227
Muscle Rigidity	Associate	23035047, 26947546, 28635423, 31868227, 33040300, 35360849, 36367347, 37344571
Neurodegenerative Diseases	Associate	35360849, 36028512
Nystagmus Pathologic	Associate	28635423
Pontocerebellar Hypoplasia	Associate	33040300
Retinal Dystrophies	Associate	28635423
Seizures	Associate	26947546, 28635423, 30786674, 31618474, 31868227, 33040300
Spinocerebellar Degenerations	Associate	33040300
Syndrome	Associate	36367347
Vision Disorders	Associate	28635423