KCTD7 (potassium channel tetramerization domain containing 7)

Gene

• Entrez ID: 154881
• Gene name: Potassium channel tetramerization domain containing 7
• Gene symbol: KCTD7
• Synonyms (NCBI Gene): CLN14, EPM3
• Disease Acronyms (UniProt): EPM3
• Chromosome: 7
• Chromosome location: 7q11.21
• Summary: This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs139585796	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs140932942	C>T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs199624315	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs200652879	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs201296399	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607199	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs368001837	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs372150992	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Synonymous variant, coding sequence variant
rs376944331	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs387907246	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs387907260	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs387907261	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs387907262	G>T	Pathogenic	Missense variant, coding sequence variant
rs387907263	C>A	Pathogenic	Missense variant, coding sequence variant
rs587780370	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs727502785	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs747676224	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs750811871	C>T	Pathogenic	Stop gained, coding sequence variant
rs774026720	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs796052686	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, synonymous variant
rs796052688	TCCAGCGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs796052689	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554397774	A>G	Likely-pathogenic	Splice acceptor variant
rs1554397834	G>A	Likely-pathogenic	Splice donor variant
rs1584399108	G>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051052	hsa-miR-17-5p	CLASH	23622248
MIRT048921	hsa-miR-92a-3p	CLASH	23622248
MIRT044637	hsa-miR-320a	CLASH	23622248
MIRT620881	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT620880	hsa-miR-1295b-5p	HITS-CLIP	23824327
MIRT620879	hsa-miR-1912	HITS-CLIP	23824327
MIRT620878	hsa-miR-3130-5p	HITS-CLIP	23824327
MIRT620877	hsa-miR-4482-5p	HITS-CLIP	23824327
MIRT620876	hsa-miR-4469	HITS-CLIP	23824327
MIRT620875	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT620874	hsa-miR-4287	HITS-CLIP	23824327
MIRT620873	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT620872	hsa-miR-5591-3p	HITS-CLIP	23824327
MIRT620871	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT620881	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT620880	hsa-miR-1295b-5p	HITS-CLIP	23824327
MIRT620879	hsa-miR-1912	HITS-CLIP	23824327
MIRT620878	hsa-miR-3130-5p	HITS-CLIP	23824327
MIRT620877	hsa-miR-4482-5p	HITS-CLIP	23824327
MIRT620876	hsa-miR-4469	HITS-CLIP	23824327
MIRT620875	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT620874	hsa-miR-4287	HITS-CLIP	23824327
MIRT620873	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT620872	hsa-miR-5591-3p	HITS-CLIP	23824327
MIRT620871	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT1083570	hsa-miR-1185	CLIP-seq
MIRT1083571	hsa-miR-122	CLIP-seq
MIRT1083572	hsa-miR-1245	CLIP-seq
MIRT1083573	hsa-miR-128	CLIP-seq
MIRT1083574	hsa-miR-1294	CLIP-seq
MIRT1083575	hsa-miR-129-5p	CLIP-seq
MIRT1083576	hsa-miR-1324	CLIP-seq
MIRT1083577	hsa-miR-155	CLIP-seq
MIRT1083578	hsa-miR-1976	CLIP-seq
MIRT1083579	hsa-miR-31	CLIP-seq
MIRT1083580	hsa-miR-3135b	CLIP-seq
MIRT1083581	hsa-miR-3157-5p	CLIP-seq
MIRT1083582	hsa-miR-3198	CLIP-seq
MIRT1083583	hsa-miR-323-3p	CLIP-seq
MIRT1083584	hsa-miR-330-3p	CLIP-seq
MIRT1083585	hsa-miR-342-3p	CLIP-seq
MIRT1083586	hsa-miR-3605-5p	CLIP-seq
MIRT1083587	hsa-miR-365	CLIP-seq
MIRT1083588	hsa-miR-3652	CLIP-seq
MIRT1083589	hsa-miR-3679-5p	CLIP-seq
MIRT1083590	hsa-miR-3692	CLIP-seq
MIRT1083591	hsa-miR-377	CLIP-seq
MIRT1083592	hsa-miR-3913-3p	CLIP-seq
MIRT1083593	hsa-miR-3922-5p	CLIP-seq
MIRT1083594	hsa-miR-3977	CLIP-seq
MIRT1083595	hsa-miR-4309	CLIP-seq
MIRT1083596	hsa-miR-4316	CLIP-seq
MIRT1083597	hsa-miR-4318	CLIP-seq
MIRT1083598	hsa-miR-432	CLIP-seq
MIRT1083599	hsa-miR-4423-5p	CLIP-seq
MIRT1083600	hsa-miR-4430	CLIP-seq
MIRT1083601	hsa-miR-4437	CLIP-seq
MIRT1083602	hsa-miR-4677-3p	CLIP-seq
MIRT1083603	hsa-miR-4680-5p	CLIP-seq
MIRT1083604	hsa-miR-4691-3p	CLIP-seq
MIRT1083605	hsa-miR-4693-5p	CLIP-seq
MIRT1083606	hsa-miR-4719	CLIP-seq
MIRT1083607	hsa-miR-4722-3p	CLIP-seq
MIRT1083608	hsa-miR-513c	CLIP-seq
MIRT1083609	hsa-miR-514b-5p	CLIP-seq
MIRT1083610	hsa-miR-520a-5p	CLIP-seq
MIRT1083611	hsa-miR-525-5p	CLIP-seq
MIRT1083612	hsa-miR-622	CLIP-seq
MIRT1083613	hsa-miR-892a	CLIP-seq
MIRT1083614	hsa-miR-938	CLIP-seq
MIRT1083615	hsa-miR-1252	CLIP-seq
MIRT1083590	hsa-miR-3692	CLIP-seq
MIRT1083616	hsa-miR-3919	CLIP-seq
MIRT1083617	hsa-miR-4477b	CLIP-seq
MIRT1083618	hsa-miR-4533	CLIP-seq
MIRT1083606	hsa-miR-4719	CLIP-seq
MIRT1083619	hsa-miR-4756-3p	CLIP-seq
MIRT2021058	hsa-miR-103a	CLIP-seq
MIRT2021059	hsa-miR-107	CLIP-seq
MIRT1083573	hsa-miR-128	CLIP-seq
MIRT1083575	hsa-miR-129-5p	CLIP-seq
MIRT1083577	hsa-miR-155	CLIP-seq
MIRT2021060	hsa-miR-15a	CLIP-seq
MIRT2021061	hsa-miR-15b	CLIP-seq
MIRT2021062	hsa-miR-16	CLIP-seq
MIRT2021063	hsa-miR-195	CLIP-seq
MIRT2021064	hsa-miR-3127-3p	CLIP-seq
MIRT1083580	hsa-miR-3135b	CLIP-seq
MIRT2021065	hsa-miR-3143	CLIP-seq
MIRT1083581	hsa-miR-3157-5p	CLIP-seq
MIRT2021066	hsa-miR-3168	CLIP-seq
MIRT2021067	hsa-miR-3173-3p	CLIP-seq
MIRT1083588	hsa-miR-3652	CLIP-seq
MIRT2021068	hsa-miR-3688-3p	CLIP-seq
MIRT2021069	hsa-miR-3689d	CLIP-seq
MIRT1083590	hsa-miR-3692	CLIP-seq
MIRT1083591	hsa-miR-377	CLIP-seq
MIRT2021070	hsa-miR-3928	CLIP-seq
MIRT2021071	hsa-miR-424	CLIP-seq
MIRT2021072	hsa-miR-4303	CLIP-seq
MIRT2021073	hsa-miR-4323	CLIP-seq
MIRT1083599	hsa-miR-4423-5p	CLIP-seq
MIRT1083600	hsa-miR-4430	CLIP-seq
MIRT2021074	hsa-miR-4524	CLIP-seq
MIRT2021075	hsa-miR-4683	CLIP-seq
MIRT2021076	hsa-miR-4699-3p	CLIP-seq
MIRT1083606	hsa-miR-4719	CLIP-seq
MIRT2021077	hsa-miR-4726-3p	CLIP-seq
MIRT2021078	hsa-miR-4753-5p	CLIP-seq
MIRT2021079	hsa-miR-4768-3p	CLIP-seq
MIRT2021080	hsa-miR-497	CLIP-seq
MIRT2021081	hsa-miR-503	CLIP-seq
MIRT2021082	hsa-miR-526b	CLIP-seq
MIRT2021083	hsa-miR-543	CLIP-seq
MIRT2021084	hsa-miR-646	CLIP-seq
MIRT1083571	hsa-miR-122	CLIP-seq
MIRT1083572	hsa-miR-1245	CLIP-seq
MIRT1083573	hsa-miR-128	CLIP-seq
MIRT2252688	hsa-miR-1343	CLIP-seq
MIRT2252689	hsa-miR-135a	CLIP-seq
MIRT2252690	hsa-miR-135b	CLIP-seq
MIRT1083578	hsa-miR-1976	CLIP-seq
MIRT2252691	hsa-miR-2355-5p	CLIP-seq
MIRT2252692	hsa-miR-2467-5p	CLIP-seq
MIRT1083580	hsa-miR-3135b	CLIP-seq
MIRT2252693	hsa-miR-3188	CLIP-seq
MIRT1083582	hsa-miR-3198	CLIP-seq
MIRT2252694	hsa-miR-3199	CLIP-seq
MIRT1083588	hsa-miR-3652	CLIP-seq
MIRT2252695	hsa-miR-3667-3p	CLIP-seq
MIRT2021069	hsa-miR-3689d	CLIP-seq
MIRT2252696	hsa-miR-378g	CLIP-seq
MIRT2252697	hsa-miR-383	CLIP-seq
MIRT1083592	hsa-miR-3913-3p	CLIP-seq
MIRT2252698	hsa-miR-3975	CLIP-seq
MIRT2252699	hsa-miR-4266	CLIP-seq
MIRT2252700	hsa-miR-4277	CLIP-seq
MIRT2252701	hsa-miR-4286	CLIP-seq
MIRT2021072	hsa-miR-4303	CLIP-seq
MIRT1083595	hsa-miR-4309	CLIP-seq
MIRT2252702	hsa-miR-4311	CLIP-seq
MIRT2252703	hsa-miR-4325	CLIP-seq
MIRT2252704	hsa-miR-4326	CLIP-seq
MIRT1083599	hsa-miR-4423-5p	CLIP-seq
MIRT1083600	hsa-miR-4430	CLIP-seq
MIRT2252705	hsa-miR-4434	CLIP-seq
MIRT1083601	hsa-miR-4437	CLIP-seq
MIRT2252706	hsa-miR-4516	CLIP-seq
MIRT2252707	hsa-miR-4674	CLIP-seq
MIRT2252708	hsa-miR-4708-5p	CLIP-seq
MIRT1083607	hsa-miR-4722-3p	CLIP-seq
MIRT2021078	hsa-miR-4753-5p	CLIP-seq
MIRT2252709	hsa-miR-4772-5p	CLIP-seq
MIRT2252710	hsa-miR-4793-5p	CLIP-seq
MIRT2252711	hsa-miR-485-5p	CLIP-seq
MIRT2252712	hsa-miR-501-5p	CLIP-seq
MIRT1083610	hsa-miR-520a-5p	CLIP-seq
MIRT1083611	hsa-miR-525-5p	CLIP-seq
MIRT2252713	hsa-miR-651	CLIP-seq
MIRT2021076	hsa-miR-4699-3p	CLIP-seq
MIRT2555775	hsa-miR-1228	CLIP-seq
MIRT2555776	hsa-miR-1265	CLIP-seq
MIRT2021060	hsa-miR-15a	CLIP-seq
MIRT2021061	hsa-miR-15b	CLIP-seq
MIRT2021062	hsa-miR-16	CLIP-seq
MIRT2021063	hsa-miR-195	CLIP-seq
MIRT2555777	hsa-miR-3074-3p	CLIP-seq
MIRT2555778	hsa-miR-3161	CLIP-seq
MIRT2021067	hsa-miR-3173-3p	CLIP-seq
MIRT2555779	hsa-miR-3177-5p	CLIP-seq
MIRT2555780	hsa-miR-337-3p	CLIP-seq
MIRT2555781	hsa-miR-338-3p	CLIP-seq
MIRT2555782	hsa-miR-340	CLIP-seq
MIRT2555783	hsa-miR-3622a-3p	CLIP-seq
MIRT2555784	hsa-miR-3622a-5p	CLIP-seq
MIRT2555785	hsa-miR-3622b-3p	CLIP-seq
MIRT2021069	hsa-miR-3689d	CLIP-seq
MIRT1083591	hsa-miR-377	CLIP-seq
MIRT2021071	hsa-miR-424	CLIP-seq
MIRT2021072	hsa-miR-4303	CLIP-seq
MIRT2555786	hsa-miR-4423-3p	CLIP-seq
MIRT2021074	hsa-miR-4524	CLIP-seq
MIRT2555787	hsa-miR-4530	CLIP-seq
MIRT2555788	hsa-miR-4643	CLIP-seq
MIRT2555789	hsa-miR-4666-5p	CLIP-seq
MIRT2555790	hsa-miR-4690-3p	CLIP-seq
MIRT2555791	hsa-miR-4691-5p	CLIP-seq
MIRT2555792	hsa-miR-4694-5p	CLIP-seq
MIRT2555793	hsa-miR-4699-5p	CLIP-seq
MIRT2555794	hsa-miR-4711-3p	CLIP-seq
MIRT2555795	hsa-miR-4773	CLIP-seq
MIRT2021080	hsa-miR-497	CLIP-seq
MIRT2021081	hsa-miR-503	CLIP-seq
MIRT2021084	hsa-miR-646	CLIP-seq
MIRT2555796	hsa-miR-648	CLIP-seq
MIRT2555797	hsa-miR-668	CLIP-seq
MIRT2555798	hsa-miR-766	CLIP-seq
MIRT2555775	hsa-miR-1228	CLIP-seq
MIRT2683263	hsa-miR-1305	CLIP-seq
MIRT2683264	hsa-miR-3183	CLIP-seq
MIRT2555780	hsa-miR-337-3p	CLIP-seq
MIRT2555781	hsa-miR-338-3p	CLIP-seq
MIRT2555782	hsa-miR-340	CLIP-seq
MIRT2683265	hsa-miR-346	CLIP-seq
MIRT2555787	hsa-miR-4530	CLIP-seq
MIRT2555790	hsa-miR-4690-3p	CLIP-seq
MIRT2555791	hsa-miR-4691-5p	CLIP-seq
MIRT2555794	hsa-miR-4711-3p	CLIP-seq
MIRT2683266	hsa-miR-4723-3p	CLIP-seq
MIRT2555797	hsa-miR-668	CLIP-seq
MIRT2555798	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22748208
GO:0005737	Component	Cytoplasm	IDA	22748208
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	22748208
GO:0032411	Process	Positive regulation of transporter activity	IBA	21873635
GO:0043687	Process	Post-translational protein modification	TAS
GO:0051260	Process	Protein homooligomerization	IEA
GO:0060081	Process	Membrane hyperpolarization	IBA	21873635
GO:0090461	Process	Glutamate homeostasis	IMP	27742667

Other IDs

• MIM: 611725
• HGNC: 21957
• e!Ensembl: ENSG00000243335

Protein

• UniProt ID: Q96MP8
• Protein name: BTB/POZ domain-containing protein KCTD7
• Protein function: May be involved in the control of excitability of cortical neurons.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02214	BTB_2	53 → 141	BTB/POZ domain	Domain

• Sequence:

  MVVVTGREPDSRRQDGAMSSSDAEDDFLEPATPTATQAGHALPLLPQEFPEVVPLNIGGA
  HFTTRLSTLRCYEDTMLAAMFSGRHYIPTDSEGRYFIDRDGTHFGDVLNFLRSGDLPPRE
  RVRAVYKEAQYYAIGPLLEQLENMQPLKGEKVRQAFLGLMPYYKDHLERIVEIARLRAVQ
  RKARFAKLKVCVFKEEMPITPYECPLLNSLRFERSESDGQLFEHHCEVDVSFGPWEAVAD
  VYDLLHCLVTDLSAQGLTVDHQCIGVCDKHLVNHYYCKRPIYEFKITWW

• Sequence length: 289

Pathways

Reactome:

Neddylation
Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Developmental regression	Developmental regression	rs1224421127
Febrile seizures	Febrile Convulsions	rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304
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
Myoclonic epilepsy	EPILEPSY, PROGRESSIVE MYOCLONIC 3	rs267607103, rs267607104, rs147484110, rs74315442, rs74315443, rs121909346, rs121918622, rs121918623, rs121917954, rs121917955, rs1574272192, rs121918624, rs121918625, rs121918628, rs121918629, rs121918630, rs1574061044, rs121918632, rs397514458, rs397514459, rs386833439, rs386833440, rs386833441, rs796943858, rs386833443, rs398122387, rs121917923, rs121917957, rs121917929, rs121917927, rs121917966, rs121917967, rs121917990, rs121917941, rs121917964, rs121917943, rs121917972, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917974, rs121917945, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917949, rs121917926, rs121917950, rs121917951, rs121917952, rs121917980, rs121917921, rs121917981, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917909, rs121917938, rs121917928, rs121918753, rs121918782, rs121918784, rs121918733, rs121918734, rs121918788, rs121918736, rs121917969, rs121918775, rs121918737, rs121918786, rs121918796, rs121918754, rs121918745, rs121918738, rs121918746, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918797, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918763, rs121918757, rs121918751, rs121918783, rs121918773, rs121918793, rs121918780, rs121918735, rs398123585, rs398123588, rs398123593, rs545986367, rs727504136, rs794726737, rs794726739, rs794726845, rs779614747, rs794726726, rs372098964, rs794726801, rs794726769, rs794726781, rs794726780, rs794726741, rs794726783, rs794726832, rs794726814, rs794726722, rs794726703, rs794726702, rs794726763, rs794726802, rs794726804, rs794726748, rs794726851, rs794726740, rs794726754, rs794726698, rs794726758, rs794726760, rs794726819, rs794726839, rs794726759, rs199727342, rs794726701, rs794726850, rs794726785, rs794726800, rs764037830, rs794726757, rs794726752, rs794726825, rs794726835, rs139300715, rs794726809, rs794726696, rs794726734, rs794726699, rs794726705, rs794726784, rs794726745, rs794726707, rs794726779, rs794726821, rs794726822, rs794726789, rs794726723, rs146878122, rs794726816, rs794726700, rs794726853, rs794726731, rs794726852, rs794726841, rs794726709, rs777939538, rs794726817, rs794726727, rs794726706, rs794726770, rs794726735, rs794726744, rs794726854, rs794726710, rs794726720, rs794726836, rs794726774, rs794726729, rs794726728, rs794726733, rs542420576, rs794726756, rs794726813, rs794726830, rs794726714, rs794726772, rs1696406839, rs794726842, rs794726828, rs794726823, rs794726708, rs794726808, rs794726716, rs121917971, rs794726718, rs794726721, rs794726761, rs794726815, rs794726786, rs794726787, rs794726697, rs794726775, rs794726712, rs794726794, rs794726738, rs794726805, rs767045134, rs794726820, rs794726766, rs794726750, rs794726743, rs794726742, rs794726795, rs794726730, rs794726806, rs794726747, rs794726838, rs794726778, rs794726834, rs794726736, rs794726704, rs794726773, rs794726749, rs794726717, rs794726790, rs794726829, rs794726807, rs794726810, rs121917989, rs794726826, rs794726725, rs794726818, rs794726776, rs794726777, rs794726765, rs794726753, rs794726732, rs794726799, rs794726695, rs794726792, rs794726767, rs794726768, rs794726844, rs794726782, rs794726797, rs794726843, rs794726798, rs794726824, rs794726837, rs794726846, rs794726788, rs794726847, rs794726812, rs794726771, rs794726751, rs773407463, rs794726755, rs794726719, rs794726724, rs794726833, rs794726827, rs1553551314, rs794726840, rs794726849, rs794726764, rs794726803, rs794726831, rs794726711, rs794726793, rs760361423, rs794726796, rs794726762, rs35595680, rs764444350, rs794726848, rs786205214, rs794729200, rs794729207, rs796053029, rs796053014, rs796053010, rs796053004, rs796053001, rs796052973, rs779184118, rs781746113, rs796052961, rs796052957, rs863225037, rs863225036, rs863225035, rs863225034, rs863225033, rs863225032, rs863225030, rs863225038, rs863225031, rs869312670, rs869312684, rs886039430, rs121917959, rs886041980, rs886042528, rs781507889, rs1057517959, rs1057518671, rs1057519533, rs1057519534, rs1057519530, rs1057519531, rs1060502189, rs1064794766, rs748759187, rs368609628, rs1553345874, rs121918795, rs1266877537, rs1553266166, rs1553522321, rs1553543215, rs1553525325, rs1553520530, rs1553544470, rs1553551493, rs1553553462, rs1553560831, rs201966711, rs537026414, rs1559101839, rs1559114303, rs1559149128, rs1553553527, rs1569006250, rs781657502, rs1574370981, rs1366966423, rs1574312497, rs796053036, rs1573949198, rs1573953706, rs1573963975, rs1573973548, rs1573984110, rs1574005699, rs1574007140, rs1574052179, rs1574069132, rs1574166948, rs1574168611, rs1574183148, rs886041292, rs1574208760, rs1574209023, rs1574217232, rs1553545567, rs796053094, rs1574240716, rs1553549471, rs1574264920, rs1574266816, rs1574271602, rs1574271644, rs1574291210, rs1574371141, rs1574371902, rs796052488, rs1581220163, rs1196223064, rs1574182550, rs1573953030, rs1574201555, rs1574281711, rs1696401617, rs1692166604, rs1574006637, rs1689139851, rs1689186812, rs1689309551, rs1689680658, rs1697997770, rs1698732089, rs1698941202, rs1697667767, rs1691073965, rs1698009615	22693283, 22606975, 22748208, 22612257, 2274208, 27742667, 17455289
Neuronal ceroid lipofuscinosis	Neuronal Ceroid-Lipofuscinoses	rs118203975, rs118203976, rs118203977, rs267607235, rs140948465, rs1740291234, rs386833969, rs104894385, rs104894386, rs121908292, rs267606738, rs1555274312, rs119455953, rs119455954, rs119455955, rs56144125, rs119455956, rs28940573, rs119455957, rs119455958, rs104894064, rs28940569, rs104894060, rs137852883, rs1555468634, rs121434286, rs267606737, rs104894483, rs397515352, rs774543080, rs121908080, rs786205067, rs137852695, rs137852696, rs137852697, rs137852698, rs137852699, rs137852700, rs137852701, rs137852702, rs63749877, rs121912789, rs121912790, rs786205105, rs154774634, rs587776892, rs387907246, rs386833624, rs386833626, rs386833625, rs386833627, rs386833628, rs386833629, rs386833630, rs386833632, rs386833633, rs386833634, rs386833635, rs386833636, rs386833637, rs386833638, rs386833641, rs386833642, rs386833643, rs386833644, rs386833645, rs386833646, rs386833647, rs386833648, rs386833649, rs386833650, rs386833651, rs386833652, rs386833653, rs148412181, rs386833654, rs386833655, rs386833656, rs386833657, rs386833658, rs386833659, rs386833660, rs386833661, rs386833663, rs386833664, rs386833665, rs386833666, rs386833667, rs386833668, rs386833669, rs386833671, rs386833694, rs386833695, rs386833696, rs386833697, rs386833698, rs386833699, rs386833700, rs386833701, rs386833702, rs386833703, rs386833704, rs386833705, rs386833706, rs386833707, rs386833708, rs386833709, rs386833710, rs386833712, rs386833713, rs386833714, rs386833715, rs386833717, rs386833720, rs386833721, rs386833722, rs386833724, rs386833725, rs386833726, rs386833728, rs386833729, rs386833730, rs386833731, rs386833732, rs386833735, rs386833736, rs386833737, rs386833739, rs386833740, rs386833741, rs386833742, rs386833743, rs386833744, rs386833963, rs386833964, rs386833965, rs386833966, rs386833967, rs386833970, rs386833971, rs386833972, rs386833973, rs386833974, rs386833975, rs386833978, rs386833979, rs386833980, rs386833981, rs386833982, rs386833983, rs386834123, rs386834124, rs386834125, rs386834126, rs386834128, rs386834130, rs386834132, rs386834133, rs386834135, rs34238807, rs386834138, rs386834139, rs397514731, rs397514732, rs753084727, rs587778809, rs154774640, rs154774639, rs121908197, rs121908198, rs121908199, rs121908200, rs121908201, rs121908203, rs121908202, rs121908195, rs121908204, rs121908205, rs121908209, rs121908207, rs104895127, rs63750411, rs587779397, rs587780315, rs724159970, rs727502800, rs727502801, rs724159971, rs746645358, rs786204553, rs786204753, rs778232650, rs786204644, rs794727955, rs794729218, rs796052925, rs796052923, rs796052927, rs558274487, rs796052752, rs144495588, rs1554901472, rs750428882, rs796053439, rs763162812, rs756564767, rs202189057, rs759080581, rs746085696, rs546989392, rs143781303, rs796052356, rs796052351, rs796052335, rs797045136, rs797045137, rs765097897, rs864309505, rs869025274, rs869312751, rs1085307087, rs878853322, rs878853325, rs878853929, rs878855053, rs878855331, rs553522118, rs748710466, rs886041568, rs886041487, rs886041546, rs1057516575, rs1057516889, rs1057517401, rs1057516447, rs1057517049, rs1057517192, rs1057517368, rs1057517112, rs747204624, rs1057516867, rs1057516582, rs756267448, rs1057516579, rs1057516511, rs1057516264, rs1057516319, rs113019349, rs1057517313, rs1057516945, rs752164603, rs1057516366, rs1057516667, rs1057516814, rs780198002, rs1057517134, rs1057516390, rs764495616, rs750935331, rs1057516677, rs1057516267, rs771788391, rs1057517350, rs1057516335, rs1057517287, rs1057517215, rs1057516343, rs777625354, rs764051026, rs559155109, rs1064796787, rs139842473, rs1064794233, rs181995380, rs1064795153, rs752612332, rs1131691676, rs1131691539, rs1555438255, rs1555058286, rs1555274005, rs1555468632, rs200348035, rs1265044710, rs1439582451, rs751696703, rs761621368, rs143730802, rs1554901580, rs1554902052, rs1553950197, rs200319160, rs143657539, rs1554901523, rs1555274338, rs1555273604, rs1555273881, rs1216139602, rs762226836, rs1553167863, rs1553166135, rs1553166147, rs1553167430, rs1349528345, rs1553166499, rs1553166337, rs1553167415, rs1553167474, rs1553167479, rs1554451504, rs746397087, rs1554449028, rs759830733, rs1554449124, rs554042394, rs1554451484, rs1554448874, rs1554448924, rs1554449047, rs1554449136, rs1554901463, rs1184563885, rs1554902043, rs763961289, rs1407106889, rs1554901576, rs1554901731, rs1424116749, rs1554901784, rs1554902216, rs779615685, rs1554902085, rs764790770, rs1555274343, rs1555274369, rs1555273567, rs1555274365, rs1555273609, rs1555274344, rs1555274373, rs1555274387, rs1451777867, rs762902907, rs756522171, rs1555438212, rs1555438443, rs1555468374, rs1555469452, rs1555467473, rs1418997146, rs1555273882, rs1478660606, rs1555273992, rs1555274014, rs1555274337, rs142456044, rs1555469159, rs758921701, rs1555469089, rs1555469477, rs1554901898, rs1554902217, rs1564855860, rs1564854729, rs1460276679, rs1560776422, rs556661896, rs868732642, rs1564855725, rs1566219136, rs1381427322, rs1557714302, rs1593914689, rs1302326945, rs1570470281, rs1570476221, rs775699005, rs1578912362, rs750162094, rs759664259, rs1589947644, rs1012449574, rs1570467252, rs778875017, rs1578794927, rs1578912759, rs1314967038, rs1465284719, rs1595816465, rs1595816474, rs1596563048, rs1565311875, rs2046113301, rs1578889355, rs776253867, rs1649597261, rs1649901192, rs749315686, rs1801297484, rs764256845, rs1242337070, rs2034349431, rs1380684360, rs1648444864, rs1739594685, rs1736369601, rs1739482158, rs1471253353, rs2046243804, rs1845791308, rs1397197980, rs2046158549	22748208
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
Progressive myoclonic epilepsy	Progressive myoclonic epilepsy type 3	rs267607199, rs104893950, rs137852917, rs137852915, rs137852916, rs104893955, rs727502773, rs121909118, rs147484110, rs74315442, rs387906881, rs387907246, rs727502785, rs387907260, rs387907261, rs387907262, rs387907263, rs796943858, rs545986367, rs727502818, rs200024180, rs200053119, rs797045143, rs863223401, rs797045065, rs141554661, rs886041078, rs886041076, rs886041075, rs781291421, rs750811871, rs746855352, rs1554263320, rs187930476, rs1085307785, rs1554991378, rs1554397774, rs1554397834, rs1568177307, rs1565162623, rs1569006250, rs561672108, rs1590088831, rs1380954046, rs1601855887, rs1590106815, rs747676224, rs1776817138, rs1786631768, rs776869841
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease term	Disease name	Evidence	References	Source
Epilepsy	progressive myoclonus epilepsy			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Ataxia	Associate	25060828
Epilepsies Myoclonic	Associate	25060828
Epilepsy	Associate	25060828
Epilepsy Rolandic	Associate	29789371
Glioblastoma	Associate	31674730
Immunologic Deficiency Syndromes	Associate	30295347
Lysosomal Storage Diseases	Associate	36368077
Movement Disorders	Associate	30295347
Myoclonic Epilepsies Progressive	Associate	30295347
Neurodegenerative Diseases	Associate	30295347
Neuronal Ceroid Lipofuscinoses	Associate	30295347, 32412666, 35921411, 36368077
Polypoidal Choroidal Vasculopathy	Associate	29789371
Seizures	Associate	30295347