MLC1 (modulator of VRAC current 1)

Gene

• Entrez ID: 23209
• Gene name: Modulator of VRAC current 1
• Gene symbol: MLC1
• Synonyms (NCBI Gene): LVM, MLC, VL
• Chromosome: 22
• Chromosome location: 22q13.33
• Summary: The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an aut

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80358241	->G	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs80358242	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs80358243	A>G,T	Likely-pathogenic	Intron variant
rs80358245	G>A	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs121908343	G>A,T	Pathogenic	Intron variant, synonymous variant, non coding transcript variant, missense variant, coding sequence variant
rs121908344	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs121908345	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs184241759	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs200463656	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs267607236	GAGT>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs281875309	G>A	Pathogenic, not-provided	Intron variant, 5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs281875313	G>A,T	Not-provided, likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs281875317	C>G,T	Not-provided, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs755271052	C>G,T	Likely-pathogenic	Splice acceptor variant, intron variant
rs761620701	C>T	Likely-pathogenic	Splice donor variant
rs764669598	G>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs764754702	G>A,C	Likely-pathogenic, likely-benign	Non coding transcript variant, intron variant, synonymous variant, stop gained, coding sequence variant
rs765879182	C>A,T	Likely-pathogenic	Splice donor variant, intron variant
rs769135961	C>T	Likely-pathogenic	Splice donor variant
rs779971307	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs786204747	A>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs794729233	C>-	Pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, frameshift variant, coding sequence variant
rs1057516286	->T	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1057516336	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1057516465	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1057516766	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1057517090	AGCAGGA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057517228	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1057517375	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1114167286	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1183818307	T>C	Pathogenic	Intron variant, splice acceptor variant
rs1555962581	A>G,T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, stop lost, terminator codon variant
rs1555963392	C>T	Likely-pathogenic	Intron variant, splice donor variant
rs1555967227	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555967644	TGAATAACATTTACCACCTATTTCCAGCTCAACAAACATTTGCTGACACCATTCGTGGGAGTGGGGCTGTGGGTGTCAGGCGTCTGCGCGAAGCTCGTGTGAACTCACGTTTATTGCTGATGGGTTCAGGACTAGTTTGCATCCAAACCAAATTAAACACGTAGTGGTCACAGCAAACGTGGAAACAAACAATATCTGAAAGTTGGGAATCTGAAAAACAAGGCAGGAGGGGTTTTCCTTCTTTGAATAATAAAA	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, splice acceptor variant, splice donor variant
rs1555967668	->A	Likely-pathogenic	Intron variant, splice donor variant
rs1555968785	C>-	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1569242061	G>A	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, stop gained
rs1602049346	TGAATAACATTTACCACCTATTTCCAGCTCAACAAACATTTGCTGACACCATTCGTGGGAGTGGGGCTGTGGGTGTCAGGCGTCTGCGCGAAGCTCGTGTGAACTCACGTTTATTGCTGATGGGTTCAGGACTAGTTTGCATCCAAACCAAATTAAACACGTAGTGGTCACAGCAAACGTGGAAACAAACAATATCTGAAAGTTGGGAATCTGAAAAACAAGGCAGGAGGGGTTTTCCTTCTTTGAATAATAAAA	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, splice acceptor variant, splice donor variant
rs1602063709	C>T	Pathogenic	5 prime UTR variant, intron variant, non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017034	hsa-miR-335-5p	Microarray	18185580
MIRT1150585	hsa-miR-1184	CLIP-seq
MIRT1150586	hsa-miR-150	CLIP-seq
MIRT1150587	hsa-miR-3157-3p	CLIP-seq
MIRT1150588	hsa-miR-342-3p	CLIP-seq
MIRT1150589	hsa-miR-3665	CLIP-seq
MIRT1150590	hsa-miR-4290	CLIP-seq
MIRT1150591	hsa-miR-4293	CLIP-seq
MIRT1150592	hsa-miR-4713-5p	CLIP-seq
MIRT1150593	hsa-miR-4736	CLIP-seq
MIRT1150594	hsa-miR-486-3p	CLIP-seq
MIRT1150595	hsa-miR-532-3p	CLIP-seq
MIRT1150596	hsa-miR-661	CLIP-seq
MIRT1150597	hsa-miR-662	CLIP-seq
MIRT1150598	hsa-miR-764	CLIP-seq
MIRT1150599	hsa-miR-874	CLIP-seq
MIRT1150600	hsa-miR-1203	CLIP-seq
MIRT1150601	hsa-miR-1288	CLIP-seq
MIRT1150602	hsa-miR-194	CLIP-seq
MIRT1150603	hsa-miR-22	CLIP-seq
MIRT1150604	hsa-miR-2467-3p	CLIP-seq
MIRT1150605	hsa-miR-2861	CLIP-seq
MIRT1150606	hsa-miR-3131	CLIP-seq
MIRT1150607	hsa-miR-3158-5p	CLIP-seq
MIRT1150608	hsa-miR-3169	CLIP-seq
MIRT1150609	hsa-miR-3657	CLIP-seq
MIRT1150610	hsa-miR-3667-3p	CLIP-seq
MIRT1150611	hsa-miR-3678-3p	CLIP-seq
MIRT1150612	hsa-miR-3973	CLIP-seq
MIRT1150613	hsa-miR-3978	CLIP-seq
MIRT1150614	hsa-miR-4418	CLIP-seq
MIRT1150615	hsa-miR-4512	CLIP-seq
MIRT1150616	hsa-miR-4669	CLIP-seq
MIRT1150617	hsa-miR-509-3-5p	CLIP-seq
MIRT1150618	hsa-miR-509-5p	CLIP-seq
MIRT1150619	hsa-miR-520g	CLIP-seq
MIRT1150620	hsa-miR-520h	CLIP-seq
MIRT1150621	hsa-miR-548a-5p	CLIP-seq
MIRT1150622	hsa-miR-548ab	CLIP-seq
MIRT1150623	hsa-miR-548ak	CLIP-seq
MIRT1150624	hsa-miR-548b-5p	CLIP-seq
MIRT1150625	hsa-miR-548c-5p	CLIP-seq
MIRT1150626	hsa-miR-548d-5p	CLIP-seq
MIRT1150627	hsa-miR-548h	CLIP-seq
MIRT1150628	hsa-miR-548i	CLIP-seq
MIRT1150629	hsa-miR-548j	CLIP-seq
MIRT1150630	hsa-miR-548w	CLIP-seq
MIRT1150631	hsa-miR-548y	CLIP-seq
MIRT1150632	hsa-miR-558	CLIP-seq
MIRT1150633	hsa-miR-559	CLIP-seq
MIRT1150634	hsa-miR-611	CLIP-seq
MIRT1150635	hsa-miR-802	CLIP-seq
MIRT1150636	hsa-miR-892a	CLIP-seq
MIRT1150637	hsa-miR-943	CLIP-seq
MIRT1150638	hsa-miR-944	CLIP-seq
MIRT2042873	hsa-miR-1205	CLIP-seq
MIRT2042874	hsa-miR-1909	CLIP-seq
MIRT2042875	hsa-miR-320a	CLIP-seq
MIRT2042876	hsa-miR-320b	CLIP-seq
MIRT2042877	hsa-miR-320c	CLIP-seq
MIRT2042878	hsa-miR-320d	CLIP-seq
MIRT2042879	hsa-miR-330-3p	CLIP-seq
MIRT2042880	hsa-miR-4270	CLIP-seq
MIRT2042881	hsa-miR-4429	CLIP-seq
MIRT2042882	hsa-miR-4441	CLIP-seq
MIRT2272514	hsa-miR-1208	CLIP-seq
MIRT2272515	hsa-miR-198	CLIP-seq
MIRT2272516	hsa-miR-665	CLIP-seq
MIRT2454163	hsa-miR-3155	CLIP-seq
MIRT2454164	hsa-miR-3155b	CLIP-seq
MIRT2454165	hsa-miR-3184	CLIP-seq
MIRT2454166	hsa-miR-423-5p	CLIP-seq
MIRT2454167	hsa-miR-4779	CLIP-seq
MIRT2454168	hsa-miR-484	CLIP-seq
MIRT2454169	hsa-miR-516b	CLIP-seq
MIRT2454170	hsa-miR-760	CLIP-seq
MIRT2454171	hsa-miR-765	CLIP-seq
MIRT2571428	hsa-miR-1207-3p	CLIP-seq
MIRT2571429	hsa-miR-296-5p	CLIP-seq
MIRT2454163	hsa-miR-3155	CLIP-seq
MIRT2454164	hsa-miR-3155b	CLIP-seq
MIRT2454165	hsa-miR-3184	CLIP-seq
MIRT2454166	hsa-miR-423-5p	CLIP-seq
MIRT2571430	hsa-miR-431	CLIP-seq
MIRT2571431	hsa-miR-4646-5p	CLIP-seq
MIRT2571432	hsa-miR-4711-3p	CLIP-seq
MIRT2571433	hsa-miR-4747-5p	CLIP-seq
MIRT2571434	hsa-miR-4763-5p	CLIP-seq
MIRT2454167	hsa-miR-4779	CLIP-seq
MIRT2454168	hsa-miR-484	CLIP-seq
MIRT2454169	hsa-miR-516b	CLIP-seq
MIRT2571435	hsa-miR-646	CLIP-seq
MIRT2454170	hsa-miR-760	CLIP-seq
MIRT2454171	hsa-miR-765	CLIP-seq
MIRT2571428	hsa-miR-1207-3p	CLIP-seq
MIRT2571430	hsa-miR-431	CLIP-seq
MIRT2571431	hsa-miR-4646-5p	CLIP-seq
MIRT2571432	hsa-miR-4711-3p	CLIP-seq
MIRT2571433	hsa-miR-4747-5p	CLIP-seq
MIRT2571434	hsa-miR-4763-5p	CLIP-seq
MIRT2571435	hsa-miR-646	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17628813, 19931615, 22328087, 32814053
GO:0005737	Component	Cytoplasm	IDA	15892299
GO:0005764	Component	Lysosome	ISS
GO:0005768	Component	Endosome	IDA	18165104
GO:0005769	Component	Early endosome	ISS
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	15367490, 22328087
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	15367490, 15892299, 22328087
GO:0005901	Component	Caveola	ISS
GO:0015031	Process	Protein transport	IEA
GO:0016021	Component	Integral component of membrane	IDA	17628813
GO:0016192	Process	Vesicle-mediated transport	ISS
GO:0016323	Component	Basolateral plasma membrane	IDA	18165104
GO:0030136	Component	Clathrin-coated vesicle	ISS
GO:0031410	Component	Cytoplasmic vesicle	IBA	21873635
GO:0031410	Component	Cytoplasmic vesicle	IDA	15892299, 19931615
GO:0032388	Process	Positive regulation of intracellular transport	IDA	19931615
GO:0042802	Function	Identical protein binding	IPI	15367490
GO:0044877	Function	Protein-containing complex binding	IDA	17628813
GO:0045121	Component	Membrane raft	ISS
GO:0047484	Process	Regulation of response to osmotic stress	IBA	21873635
GO:0047484	Process	Regulation of response to osmotic stress	IMP	22328087
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	19931615, 22328087
GO:0055037	Component	Recycling endosome	ISS
GO:0071397	Process	Cellular response to cholesterol	ISS
GO:0072584	Process	Caveolin-mediated endocytosis	ISS

Other IDs

• MIM: 605908
• HGNC: 17082
• e!Ensembl: ENSG00000100427

Protein

• UniProt ID: Q15049
• Protein name: Membrane protein MLC1 (Megalencephalic leukoencephalopathy with subcortical cysts protein 1)
• Protein function: Transmembrane protein mainly expressed in brain astrocytes that may play a role in transport across the blood-brain and brain-cerebrospinal fluid barriers (PubMed:22328087). Regulates the response of astrocytes to hypo-osmosis by promoting calci
• Tissue specificity: TISSUE SPECIFICITY: Expressed in the brain, with highest levels found in the amygdala, nucleus caudatus, thalamus and hippocampus. {ECO:0000269|PubMed:11326298}.
• Sequence:

  MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGS
  CLLVTSGFSLYLGNVFPAEMDYLRCAAGSCIPSAIVSFTVSRRNANVIPNFQILFVSTFA
  VTTTCLIWFGCKLVLNPSAININFNLILLLLLELLMAATVIIAARSSEEDCKKKKGSMSD
  SANILDEVPFPARVLKSYSVVEVIAGISAVLGGIIALNVDDSVSGPHLSVTFFWILVACF
  PSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPS
  YDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLQGASWDTQNGPQERLAGEVARSPLK
  EFDKEKAWRAVVVQMAQ

• Sequence length: 377

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Adenocarcinoma	Adenoid Cystic Carcinoma	rs121913530, rs886039394, rs121913474	16762588
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Megalencephalic leukoencephalopathy with subcortical cysts	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS, Megalencephalic leukoencephalopathy with subcortical cysts	rs80358245, rs1183818307, rs121908343, rs121908344, rs121908345, rs267607236, rs80358242, rs80358241, rs80358243, rs387907049, rs387907050, rs387907051, rs387907052, rs387907053, rs387907055, rs281875309, rs281875311, rs281875317, rs281875315, rs281875313, rs761620701, rs786204747, rs794729233, rs1114167286, rs1057516465, rs755271052, rs1057517375, rs769135961, rs1057517090, rs1057516336, rs1057516766, rs1057516286, rs1057517228, rs1555963392, rs1555962581, rs1555967668, rs765879182, rs1555968785, rs764754702, rs764669598, rs1555967227, rs1565339091, rs1569242061, rs1602063709, rs1602049346, rs781004589, rs281875316, rs752428321, rs1436214826	11935341, 25497041, 11254442, 22416245, 26349194, 27322623, 22006981, 21145992, 16470554, 18757878, 14572144, 23851226, 22328087, 16652334, 29466841, 21555057, 23793458, 12189496, 12939431, 21160490, 19168821, 27081509, 28588848, 21624973, 25767710, 14615938, 22405205, 15367490
Mental retardation	Mild Mental Retardation	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
Schizophrenia	Schizophrenia, Schizophrenia, Catatonic, Chronic schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	17210142, 12111645, 14755440, 15992519, 14603469
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	29466841

Unknown
Disease term	Disease name	Evidence	References	Source
Major affective disorder	MAJOR AFFECTIVE DISORDER 2		15992519	ClinVar
Megalencephalic Leukoencephalopathy With Subcortical Cysts	megalencephalic leukoencephalopathy with subcortical cysts 1, megalencephalic leukoencephalopathy with subcortical cysts			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
AA amyloidosis	Associate	21315556
Adenocarcinoma	Associate	32509861
Alzheimer Disease	Associate	24439168
Amyloidosis	Associate	12515719, 21315556, 31364359
Arthritis Juvenile	Associate	12562401, 2022732
Arthritis Rheumatoid	Associate	12562401, 8218839
Astrocytoma	Associate	32521795, 36078064
Brain Edema	Associate	36078064
Brain Neoplasms	Associate	37722850
Breast Neoplasms	Associate	11259089, 27773611
Carcinoma Non Small Cell Lung	Associate	23571382
Catatonia	Associate	32620087
Cognition Disorders	Associate	27322623, 34982449
Complement component 5 deficiency	Associate	12649134
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	Associate	19617849
Craniocerebral Trauma	Associate	27322623
Cryoglobulinemia Familial Mixed	Associate	20170491
Cysts	Associate	29908077, 32521795, 35468122, 36078064
Depressive Disorder	Associate	32620087
Developmental Disabilities	Associate	27322623
Disease	Associate	24909383
Epilepsies Myoclonic	Associate	34982449
Epilepsy	Associate	34982449
Fever	Associate	27322623
Fibrocartilaginous embolism	Associate	33415745
Generalized Epilepsy With Febrile Seizures Plus Type 1	Associate	34982449
Glioblastoma	Associate	17628813, 37722850
Glut1 Deficiency Syndrome	Associate	23671580, 34539242
HIV Infections	Associate	22312424
Hypomagnesemia 5 Renal with Ocular Involvement	Stimulate	12515719
Immunoglobulin Light chain Amyloidosis	Associate	32151314
Leukemia Lymphocytic Chronic B Cell	Associate	10477712, 1402653, 17380195, 7681468, 8364211
Leukemia Prolymphocytic T Cell	Associate	8222331
Leukodystrophy Metachromatic	Associate	26033718, 35468122, 36078064
Lupus Erythematosus Systemic	Associate	9764614
Lymphoma B Cell	Associate	11159532
Lymphoma B Cell Marginal Zone	Associate	9129040
Lymphoma Non Hodgkin	Associate	20170491
Megalencephalic leukoencephalopathy with subcortical cysts	Associate	11254442, 17628813, 22382567, 22416245, 26392452, 28840990, 29661901, 29908077, 32521795, 32620087, 35468122
Megalencephaly	Associate	36078064
Melanoma	Associate	8692806
Microcephaly with Mental Retardation and Digital Anomalies	Associate	32209057
Monosomy	Associate	35348598
Motor Disorders	Associate	27322623
Multiple Myeloma	Associate	8978295
Multiple Sclerosis	Associate	29908077
Multiple Sclerosis Chronic Progressive	Associate	29908077
Muscular Diseases	Associate	27453230
Myasthenia Gravis	Associate	28087666
Myocardial Infarction	Associate	30683112
Neoplasms	Associate	11259089, 29886758, 35348598, 8978295
Neurologic Manifestations	Associate	29908077
Neuromyelitis Optica	Associate	25626447
Post Acute COVID 19 Syndrome	Associate	38259488
Prion Diseases	Associate	19617849
Prostatic Neoplasms	Associate	20053773, 29188305
Pulmonary Disease Chronic Obstructive	Associate	9493673
Renal Insufficiency	Associate	31257432
Seizures	Associate	27322623, 35468122
Sjogren's Syndrome	Associate	12106503, 25535746
Squamous Cell Carcinoma of Head and Neck	Associate	29043437
Stomach Neoplasms	Associate	27904131
Telomeric 22q13 Monosomy Syndrome	Associate	30875393
Thrombosis	Associate	8222331
Trisomy 22 mosaicism syndrome	Associate	28840990
Unconsciousness	Associate	27322623
Uniparental Disomy	Associate	28840990
Uveal melanoma	Associate	35348598