MYLK2 (myosin light chain kinase 2)

Gene

• Entrez ID: 85366
• Gene name: Myosin light chain kinase 2
• Gene symbol: MYLK2
• Synonyms (NCBI Gene): KMLC, MLCK, MLCK2, skMLCK
• Chromosome: 20
• Chromosome location: 20q11.21
• Summary: This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41293104	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs117502839	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs121908107	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs121908108	C>A	Likely-benign, pathogenic, benign	Coding sequence variant, missense variant
rs147329431	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs193922712	A>G	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1168743	hsa-miR-122	CLIP-seq
MIRT1168744	hsa-miR-1343	CLIP-seq
MIRT1168745	hsa-miR-151-5p	CLIP-seq
MIRT1168746	hsa-miR-151b	CLIP-seq
MIRT1168747	hsa-miR-183	CLIP-seq
MIRT1168748	hsa-miR-1908	CLIP-seq
MIRT1168749	hsa-miR-1976	CLIP-seq
MIRT1168750	hsa-miR-28-5p	CLIP-seq
MIRT1168751	hsa-miR-2861	CLIP-seq
MIRT1168752	hsa-miR-3139	CLIP-seq
MIRT1168753	hsa-miR-3150a-3p	CLIP-seq
MIRT1168754	hsa-miR-3175	CLIP-seq
MIRT1168755	hsa-miR-3183	CLIP-seq
MIRT1168756	hsa-miR-342-3p	CLIP-seq
MIRT1168757	hsa-miR-361-3p	CLIP-seq
MIRT1168758	hsa-miR-3622b-5p	CLIP-seq
MIRT1168759	hsa-miR-3689d	CLIP-seq
MIRT1168760	hsa-miR-370	CLIP-seq
MIRT1168761	hsa-miR-3909	CLIP-seq
MIRT1168762	hsa-miR-4253	CLIP-seq
MIRT1168763	hsa-miR-4267	CLIP-seq
MIRT1168764	hsa-miR-4279	CLIP-seq
MIRT1168765	hsa-miR-4481	CLIP-seq
MIRT1168766	hsa-miR-4487	CLIP-seq
MIRT1168767	hsa-miR-4667-5p	CLIP-seq
MIRT1168768	hsa-miR-4700-5p	CLIP-seq
MIRT1168769	hsa-miR-4719	CLIP-seq
MIRT1168770	hsa-miR-4723-3p	CLIP-seq
MIRT1168771	hsa-miR-4731-5p	CLIP-seq
MIRT1168772	hsa-miR-4745-5p	CLIP-seq
MIRT1168773	hsa-miR-4802-5p	CLIP-seq
MIRT1168774	hsa-miR-491-5p	CLIP-seq
MIRT1168775	hsa-miR-508-5p	CLIP-seq
MIRT1168776	hsa-miR-628-5p	CLIP-seq
MIRT1168777	hsa-miR-663	CLIP-seq
MIRT1168778	hsa-miR-708	CLIP-seq
MIRT1168779	hsa-miR-766	CLIP-seq
MIRT1168780	hsa-miR-939	CLIP-seq
MIRT2048559	hsa-miR-1207-3p	CLIP-seq
MIRT2048560	hsa-miR-4713-5p	CLIP-seq
MIRT2576301	hsa-miR-1587	CLIP-seq
MIRT2576302	hsa-miR-378g	CLIP-seq
MIRT2576303	hsa-miR-4492	CLIP-seq
MIRT2576304	hsa-miR-4498	CLIP-seq
MIRT2576305	hsa-miR-4650-5p	CLIP-seq
MIRT2576306	hsa-miR-4656	CLIP-seq
MIRT2576307	hsa-miR-4675	CLIP-seq
MIRT2576308	hsa-miR-4733-3p	CLIP-seq
MIRT2576309	hsa-miR-4741	CLIP-seq
MIRT2576310	hsa-miR-661	CLIP-seq
MIRT2576311	hsa-miR-762	CLIP-seq
MIRT2576301	hsa-miR-1587	CLIP-seq
MIRT2576302	hsa-miR-378g	CLIP-seq
MIRT2576303	hsa-miR-4492	CLIP-seq
MIRT2576304	hsa-miR-4498	CLIP-seq
MIRT2576305	hsa-miR-4650-5p	CLIP-seq
MIRT2576306	hsa-miR-4656	CLIP-seq
MIRT2576307	hsa-miR-4675	CLIP-seq
MIRT2576308	hsa-miR-4733-3p	CLIP-seq
MIRT2576309	hsa-miR-4741	CLIP-seq
MIRT2576310	hsa-miR-661	CLIP-seq
MIRT2576311	hsa-miR-762	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004683	Function	Calcium/calmodulin-dependent protein kinase activity	ISS
GO:0004687	Function	Myosin light chain kinase activity	IBA
GO:0004687	Function	Myosin light chain kinase activity	IDA	16448786
GO:0004687	Function	Myosin light chain kinase activity	IEA
GO:0004687	Function	Myosin light chain kinase activity	ISS
GO:0005515	Function	Protein binding	IPI	21556048, 22939624, 28514442, 31391242, 31980649, 32814053, 33961781, 36931259
GO:0005516	Function	Calmodulin binding	IC	16448786
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	ISS
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	21556048
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	21556048
GO:0005737	Component	Cytoplasm	IEA
GO:0006941	Process	Striated muscle contraction	IBA
GO:0006941	Process	Striated muscle contraction	IDA	16448786
GO:0007165	Process	Signal transduction	IBA
GO:0007274	Process	Neuromuscular synaptic transmission	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	21556048
GO:0014816	Process	Skeletal muscle satellite cell differentiation	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018107	Process	Peptidyl-threonine phosphorylation	IDA	21556048
GO:0030017	Component	Sarcomere	IC	16448786
GO:0032027	Function	Myosin light chain binding	IBA
GO:0032971	Process	Regulation of muscle filament sliding	IDA	16448786
GO:0035914	Process	Skeletal muscle cell differentiation	IDA	21556048
GO:0045202	Component	Synapse	IEA
GO:0046777	Process	Protein autophosphorylation	IDA	21556048
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IBA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IMP	16448786
GO:0060048	Process	Cardiac muscle contraction	IC	16448786

Other IDs

• MIM: 606566
• HGNC: 16243
• e!Ensembl: ENSG00000101306

Protein

• UniProt ID: Q9H1R3
• Protein name: Myosin light chain kinase 2, skeletal/cardiac muscle (MLCK2) (EC 2.7.11.18)
• Protein function: Implicated in the level of global muscle contraction and cardiac function. Phosphorylates a specific serine in the N-terminus of a myosin light chain.
• PDB: 2LV6, 3KF9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	285 → 540	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Heart and skeletal muscles. Increased expression in the apical tissue compared to the interventricular septal tissue.
• Sequence:

  MATENGAVELGIQNPSTDKAPKGPTGERPLAAGKDPGPPDPKKAPDPPTLKKDAKAPASE
  KGDGTLAQPSTSSQGPKGEGDRGGGPAEGSAGPPAALPQQTATPETSVKKPKAEQGASGS
  QDPGKPRVGKKAAEGQAAARRGSPAFLHSPSCPAIISSSEKLLAKKPPSEASELTFEGVP
  MTHSPTDPRPAKAEEGKNILAESQKEVGEKTPGQAGQAKMQGDTSRGIEFQAVPSEKSEV
  GQALCLTAREEDCFQILDDCPPPPAPFPHRMVELRTGNVSSEFSMNSKEALGGGKFGAVC
  TCMEKATGLKLAAKVIKKQTPKDKEMVLLEIEVMNQLNHRNLIQLYAAIETPHEIVLFME
  YIEGGELFERIVDEDYHLTEVDTMVFVRQICDGILFMHKMRVLHLDLKPENILCVNTTGH
  LVKIIDFGLARRYNPNEKLKVNFGTPEFLSPEVVNYDQISDKTDMWSMGVITYMLLSGLS
  PFLGDDDTETLNNVLSGNWYFDEETFEAVSDEAKDFVSNLIVKDQRARMNAAQCLAHPWL
  NNLAEKAKRCNRRLKSQILLKKYLMKRRWKKNFIAVSAANRFKKISSSGALMALGV

• Sequence length: 596

Pathways

KEGG:

Calcium signaling pathway
cGMP-PKG signaling pathway
Vascular smooth muscle contraction
Apelin signaling pathway
Focal adhesion
Platelet activation
Regulation of actin cytoskeleton
Oxytocin signaling pathway
Gastric acid secretion

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cardiomyopathy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs200155693, rs145656924, rs147099889, rs111888319, rs727503306, rs140233643, rs202084078, rs375144075, rs113936360, rs76603530, rs41293104, rs121908108, rs76530988, rs6060980, rs34396614, rs193922712, rs41293106, rs374233822, rs397517471, rs28763880, rs17340492, rs372190501, rs138130914, rs115398036, rs117502839, rs3746597, rs144621796, rs368444888, rs751084569, rs374353729, rs1269686595, rs748134754, rs768092962, rs188352991, rs759608229, rs1568631895, rs56385445, rs1600414450, rs1452504056, rs747657397	RCV001799087 RCV001170852 RCV001170854 RCV001171023 RCV000770581 RCV001170851 RCV000770573 RCV001170855 RCV001170856 RCV000770582 RCV000770576 RCV001170850 RCV000030328 RCV000030330 RCV000030331 RCV000030332 RCV000030333 RCV001798895 RCV004017332 RCV001170849 RCV001170853 RCV001171025 RCV000770567 RCV000770569 RCV000852948 RCV000770574 RCV000770575 RCV000770580 RCV000769535 RCV000770568 RCV000770570 RCV000770571 RCV000770572 RCV000770577 RCV000770578 RCV000770579 RCV001798982 RCV001798979 RCV001170847 RCV001171024
Cardiomyopathy, hypertrophic, midventricular, digenic	Conflicting classifications of pathogenicity; Benign; Likely benign	rs121908107, rs121908108	RCV000004465 RCV000004466
Dilated cardiomyopathy 1KK	Uncertain significance	rs767211264	RCV004789220
Fabry disease	Likely benign	rs587782968	RCV000143931
Gastric cancer	Uncertain significance	rs1279963761	RCV005909124
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs41293104, rs766199082, rs190077645, rs7269370, rs1490196764, rs138130914, rs115398036, rs775059729, rs753089175	RCV000852538 RCV000768521 RCV000401888 RCV000306510 RCV000497308 RCV001293152 RCV004764899 RCV000852540 RCV004764958
Hypertrophic cardiomyopathy 1	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs2062247649, rs750419427, rs2062319347, rs779321042, rs769968444, rs2062252352, rs749224761, rs144359857, rs192056427, rs763316056, rs2123130394, rs150004017, rs773417120, rs768001289, rs2123128189, rs763149471, rs780842075, rs772804572, rs202047576, rs141524173, rs771352528, rs886056578, rs370053164, rs990954469, rs930435016, rs2123125859, rs1266323436, rs149280577, rs200710399, rs2123130573, rs200155693, rs751829959, rs1389317242, rs371130292, rs369435472, rs575681305, rs1261064039, rs201144061, rs764494869, rs775405264, rs367859025, rs1405172030, rs35574032, rs1390693355, rs896469988, rs201107614, rs2123127709, rs1026490690, rs759608229, rs367707824, rs1222457605, rs775335331, rs752288788, rs914355976, rs1370884458, rs112657833, rs974471969, rs973371846, rs1240723658, rs367922073, rs771059154, rs778578033, rs768716432, rs781613441, rs2123126349, rs2123125941, rs2123140854, rs773045483, rs189282373, rs587781091, rs2123139554, rs2123140758, rs2062319327, rs2123127754, rs1251172824, rs760629458, rs2123127764, rs2123134566, rs371900250, rs1600414546, rs2123126489, rs1442623234, rs1342901282, rs781322060, rs1405030492, rs2062252502, rs2123130570, rs373406874, rs150342605, rs146485342, rs753309061, rs2123128080, rs193922713, rs780660993, rs757802556, rs560186994, rs767402714, rs2123126696, rs747697105, rs370429139, rs765150509, rs765889473, rs2062304481, rs745498112, rs756032622, rs1331155233, rs2123139600, rs762322372, rs6060980, rs1429941974, rs754876521, rs1223978472, rs2123131710, rs2123130655, rs2062241495, rs2123141528, rs727504624, rs892663559, rs2123141194, rs2062241484, rs2062253179, rs199854237, rs761603914, rs772259200, rs769913699, rs867518927, rs587782968, rs2062308168, rs1489644054, rs755594011, rs2123125914, rs759832182, rs750724227, rs727504681, rs560951755, rs145656924, rs727504591, rs531015124, rs142620954, rs147099889, rs727503305, rs111888319, rs727503306, rs551492045, rs727503303, rs727503304, rs140233643, rs202084078, rs140695242, rs727504437, rs727505336, rs375144075, rs113936360, rs76603530, rs762972654, rs2062280955, rs746360476, rs1307094136, rs765387768, rs774669925, rs1407512079, rs1285227408, rs1042706370, rs1249774186, rs564539888, rs756882768, rs1457156628, rs2515456876, rs551868924, rs769061608, rs377328892, rs2515460451, rs764248903, rs776019860, rs565588866, rs776904119, rs2515460419, rs756949426, rs2515451638, rs764441706, rs977115591, rs786205283, rs768640764, rs747109352, rs199791180, rs41293104, rs139331477, rs750838459, rs2123125141, rs1328631034, rs1251847749, rs763678910, rs746480315, rs138517155, rs371836552, rs121908107, rs121908108, rs752618730, rs1310164094, rs777578125, rs1335931963, rs751494087, rs774383057, rs751317546, rs34396614, rs1568627884, rs201134349, rs750548324, rs779637525, rs765059037, rs748888630, rs1329667381, rs1014407969, rs2515452458, rs2062252983, rs2515451578, rs934365518, rs774881101, rs2062252912, rs2515452215, rs1600407058, rs1267386817, rs1241162046, rs1428034327, rs1262954625, rs780313264, rs781492844, rs775285427, rs549697670, rs760391320, rs370435116, rs369886665, rs1286300289, rs2515452501, rs2515451136, rs150285652, rs2515461145, rs2515452386, rs752617053, rs756013032, rs754853086, rs876657524, rs754860438, rs989421183, rs878855173, rs878855174, rs764465707, rs2035654766, rs1229893335, rs1031638117, rs1014399187, rs761288375, rs2062262635, rs549728739, rs761732061, rs759607876, rs2515456855, rs2062244940, rs752716920, rs774113479, rs2515450290, rs1383312784, rs779291493, rs2515460071, rs2515451065, rs2515461016, rs2515456840, rs2515454248, rs756380111, rs1955023201, rs2515454311, rs6060968, rs2062307658, rs191338438, rs1197816369, rs2515461502, rs2515460441, rs748682977, rs1455902610, rs1295031304, rs2515451467, rs2062244368, rs768745988, rs947189841, rs2515457220, rs1450943906, rs2515454129, rs370838605, rs759181721, rs757983286, rs1471938352, rs2515452350, rs554990560, rs940139089, rs2515460388, rs2515451027, rs2062262745, rs372981969, rs769568693, rs1230814435, rs886056576, rs141415487, rs200963586, rs777799897, rs745574239, rs138459623, rs373252847, rs766074380, rs145772898, rs146497334, rs751701199, rs374538348, rs1060500984, rs761688232, rs1060500985, rs772716379, rs1085307713, rs141105787, rs201168172, rs76530988, rs55807353, rs193922712, rs41293106, rs1555789900, rs1555789906, rs371807668, rs200204126, rs144129296, rs776210812, rs374233822, rs368839195, rs770625966, rs758879929, rs373880854, rs146745888, rs770363702, rs375290219, rs574644297, rs147329431, rs200234935, rs1555790622, rs776262276, rs201983158, rs774114072, rs28763880, rs17340492, rs6089088, rs397517472, rs369603764, rs372190501, rs138130914, rs115398036, rs397517474, rs117502839, rs3746597, rs6058469, rs144621796, rs868117451, rs1568626448, rs1278523169, rs376297935, rs1568634635, rs368444888, rs1288571285, rs374353729, rs768092962, rs188352991, rs1228303561, rs1316397890, rs1183127391, rs772745416, rs56385445, rs1600407268, rs767211264, rs762726572, rs768264478, rs1279963761, rs759960723, rs749619576, rs1600414450, rs373609417, rs755753841, rs775059729, rs751038976, rs374323310, rs1037625331, rs777459815, rs1297500199, rs772534999, rs1600406921, rs1010376413, rs772321212, rs1600410950, rs746102821, rs772970924, rs770237487, rs372639122, rs2062304072, rs183224373, rs2062307963, rs540151040, rs1240286486, rs774851606, rs747657397, rs2062304337, rs2062241270, rs567882762, rs757350083, rs753089175, rs1402022243, rs770590365, rs2062307970, rs2062247669, rs755363421, rs2062280681, rs1174826293, rs767857271	RCV001315812 RCV001324931 RCV001324173 RCV001343614 RCV001337479 RCV001343232 RCV001339755 RCV001337640 RCV001371814 RCV001366664 RCV001366272 RCV001372863 RCV001373711 RCV001397502 RCV001403170 RCV001408524 RCV001404528 RCV001401827 RCV001405446 RCV001442549 RCV001447364 RCV001432688 RCV001429541 RCV001432747 RCV001432182 RCV001424724 RCV001467553 RCV001455682 RCV001455000 RCV001451078 RCV001462629 RCV001465687 RCV001472289 RCV001503180 RCV001479626 RCV001480437 RCV001504986 RCV001487452 RCV001487488 RCV001498755 RCV002032520 RCV002570689 RCV002072099 RCV002032620 RCV001779334 RCV001868682 RCV001779348 RCV001930196 RCV001944901 RCV002035876 RCV002004326 RCV001866275 RCV002034147 RCV001923341 RCV001957302 RCV001959277 RCV001948958 RCV002032182 RCV002000665 RCV002015141 RCV001970144 RCV001987671 RCV002008400 RCV001992541 RCV001927155 RCV001916685 RCV001916836 RCV002023697 RCV002020004 RCV001951789 RCV002027409 RCV002055693 RCV001467499 RCV002002324 RCV001891417 RCV001928794 RCV001934339 RCV001864570 RCV001899615 RCV001947620 RCV002036438 RCV001949449 RCV002026428 RCV002019808 RCV001939158 RCV001889768 RCV001903540 RCV001967577 RCV002026841 RCV001951697 RCV002020995 RCV002041261 RCV001940021 RCV002145288 RCV002146979 RCV002170816 RCV002213548 RCV002088330 RCV002128069 RCV002124060 RCV002164901 RCV002092960 RCV002200382 RCV002133770 RCV002093094 RCV002126901 RCV002219099 RCV002101252 RCV002158644 RCV002106843 RCV002114367 RCV002109544 RCV002195718 RCV002210066 RCV002110410 RCV002160906 RCV002218927 RCV002116051 RCV002133332 RCV002128518 RCV002082395 RCV002193578 RCV002185218 RCV002169330 RCV002154759 RCV002126981 RCV002117401 RCV002117052 RCV002131292 RCV002090212 RCV002206243 RCV002193921 RCV002055859 RCV002109655 RCV002189294 RCV002177609 RCV002219934 RCV002139523 RCV002175432 RCV005089757 RCV001465303 RCV000473488 RCV001850133 RCV001294380 RCV000227597 RCV000862153 RCV001403755 RCV000461474 RCV001432325 RCV003764915 RCV005089736 RCV002514914 RCV001245064 RCV001038869 RCV000457229 RCV000650233 RCV000457587 RCV001521370 RCV000461652 RCV000477587 RCV002297853 RCV002297996 RCV005096124 RCV005096285 RCV003099592 RCV003523128 RCV003096639 RCV005096661 RCV003635989 RCV005097275 RCV003774360 RCV003096981 RCV005097719 RCV003094891 RCV003523134 RCV005097644 RCV005097571 RCV002470617 RCV003072152 RCV003070140 RCV003085414 RCV003092213 RCV003069225 RCV003084007 RCV003093373 RCV003079684 RCV003078448 RCV003097443 RCV002492721 RCV000806309 RCV001444325 RCV003635904 RCV000543290 RCV000822680 RCV003080596 RCV002588762 RCV002632627 RCV002606257 RCV002611970 RCV002628801 RCV002634256 RCV002654814 RCV000539484 RCV000467194 RCV002640395 RCV002629403 RCV002638089 RCV003110917 RCV003105563 RCV002589335 RCV002598478 RCV002630190 RCV002592947 RCV000467946 RCV000695126 RCV000459516 RCV000469638 RCV002670875 RCV002696309 RCV002716071 RCV002721068 RCV002672254 RCV002750117 RCV002761293 RCV002756982 RCV002832766 RCV002806726 RCV002816299 RCV002824747 RCV002862170 RCV002861549 RCV002858483 RCV002881105 RCV002907819 RCV002899976 RCV002895070 RCV002937063 RCV002937609 RCV002932646 RCV002949309 RCV003007690 RCV000201511 RCV003011552 RCV003031945 RCV003042874 RCV003029850 RCV003039393 RCV003057511 RCV002515547 RCV005099844 RCV002054951 RCV003522950 RCV003120275 RCV003779504 RCV000232628 RCV000230232 RCV001495210 RCV003636005 RCV003636006 RCV005102685 RCV003523166 RCV003448837 RCV003523334 RCV003524909 RCV003524951 RCV003522598 RCV003525109 RCV003525235 RCV003523408 RCV003523378 RCV003523462 RCV003524415 RCV003524427 RCV003524660 RCV003523747 RCV003524390 RCV003524502 RCV003524766 RCV003524839 RCV003522629 RCV003522666 RCV003522804 RCV003524793 RCV003522723 RCV003636204 RCV003636150 RCV003636295 RCV003636371 RCV003636352 RCV003636276 RCV003636971 RCV003637004 RCV003637018 RCV003637120 RCV003637186 RCV003637293 RCV003637250 RCV003637867 RCV003638029 RCV003637884 RCV003638074 RCV003635427 RCV003636691 RCV003636688 RCV003637440 RCV003637548 RCV003636880 RCV003637422 RCV003828466 RCV003850882 RCV003868961 RCV003870494 RCV003879023 RCV003879514 RCV005104686 RCV005100638 RCV005059478 RCV001298570 RCV003827078 RCV001409869 RCV002064990 RCV003635915 RCV001489599 RCV001419213 RCV002062314 RCV000463181 RCV000475270 RCV000472668 RCV000475384 RCV000471417 RCV000465056 RCV000475478 RCV000474150 RCV000465390 RCV000461928 RCV000804868 RCV002526014 RCV000529977 RCV001857947 RCV002054511 RCV000471480 RCV002054512 RCV000205159 RCV001305490 RCV000230295 RCV000616563 RCV000554227 RCV000532530 RCV000547930 RCV000541498 RCV000526748 RCV000542281 RCV000556193 RCV002529594 RCV002529476 RCV001498015 RCV003522999 RCV002066684 RCV003523001 RCV002063917 RCV003522998 RCV001212786 RCV000611512 RCV000650228 RCV000650231 RCV000650230 RCV000650232 RCV000650229 RCV000468992 RCV000226105 RCV000206425 RCV000466741 RCV001089240 RCV001418099 RCV001081175 RCV000229635 RCV002513558 RCV001085211 RCV000463067 RCV001517149 RCV001087036 RCV001257227 RCV000687193 RCV001257226 RCV000698083 RCV000691166 RCV000703784 RCV000694072 RCV001451045 RCV001855989 RCV001478549 RCV001483415 RCV001300152 RCV000794592 RCV000806417 RCV000791556 RCV000805596 RCV000807699 RCV000816384 RCV000814147 RCV000818471 RCV000806359 RCV000810807 RCV000802387 RCV000792863 RCV002068614 RCV005092497 RCV003106083 RCV001220649 RCV001078817 RCV001489216 RCV000917377 RCV001431883 RCV001483417 RCV001462704 RCV000943198 RCV001411392 RCV001503295 RCV001363416 RCV001000717 RCV001063123 RCV001071562 RCV001068788 RCV001036837 RCV001035718 RCV001045077 RCV001055021 RCV001063984 RCV001051350 RCV001043263 RCV001052515 RCV001060806 RCV002559638 RCV001196271 RCV001225098 RCV001213548 RCV001207919 RCV001209855 RCV001227106 RCV001229604 RCV001225738 RCV001237340 RCV001226089 RCV001225781 RCV001304497 RCV001305328 RCV001297822 RCV001303526
Left ventricular noncompaction cardiomyopathy	Conflicting classifications of pathogenicity	rs56385445	RCV000853131
Long QT syndrome	Conflicting classifications of pathogenicity	rs117502839	RCV000852948
MYLK2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs768001289, rs200155693, rs751829959, rs147099889, rs727504437, rs76603530, rs41293104, rs121908108, rs1031638117, rs940139089, rs764465707, rs1401073137, rs772716379, rs34396614, rs144129296, rs1555789909, rs369603764, rs117502839, rs3746597, rs759960723, rs774851606, rs747657397	RCV003920883 RCV003930968 RCV003956041 RCV003895041 RCV003945219 RCV003917512 RCV003907544 RCV004745145 RCV003399582 RCV003893356 RCV003896818 RCV003927133 RCV004745391 RCV003964820 RCV003962574 RCV003945556 RCV003904950 RCV003904951 RCV004745175 RCV003413629 RCV004746226 RCV003945898
Nonpapillary renal cell carcinoma	Likely benign	rs774383057	RCV005899923
Primary familial hypertrophic cardiomyopathy	Uncertain significance	rs752617053	RCV000208377
See cases	Uncertain significance	rs768640764, rs772716379	RCV004584362 RCV002252131
Sudden unexplained death	Uncertain significance	rs761688232	RCV000999615
Ventricular tachycardia	Conflicting classifications of pathogenicity; Uncertain significance	rs117502839, rs755753841	RCV000852948 RCV000852539

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	34700051
Carcinoma Hepatocellular	Associate	37309005
Cardiomyopathies	Associate	33455984
Cardiomyopathy Dilated	Associate	33455984
COVID 19	Associate	37309005
Histidinemia	Associate	36876056
Inflammation	Associate	32986378
Nasopharyngeal Carcinoma	Associate	32986378
Nasopharyngitis	Associate	32986378
Pancreatic Neoplasms	Stimulate	20587030