| Hypertrophic Cardiomyopathy |
C0007194 |
ACADL
|
|
|
ACADVL
|
|
|
ACTA1
|
16945537, 15520409, 23650303, 21570694 |
|
ACTC1
|
22563033, 19799913, 21839045, 24309898, 21622575, 18506004, 16611632, 10966831, 24736382, 16675844, 16267253, 30681346, 17611253, 10330430, 23604709, 25239116, 27532257, 22643837 |
|
ACTN2
|
20022194 |
|
ADAR
|
|
|
SLC25A4
|
27532257, 27604308 |
|
ATP5F1E
|
|
|
ATP6V1A
|
|
|
BCS1L
|
|
|
BRCA1
|
|
|
BRAF
|
16439621, 16474404 |
|
BRCA2
|
|
|
CACNA1C
|
26253506 |
|
CACNB2
|
|
|
CASQ2
|
|
|
CASR
|
|
|
CAV1
|
|
|
COX6B1
|
|
|
COX7B
|
|
|
COX8A
|
|
|
COX10
|
|
|
COX15
|
|
|
CPT1A
|
|
|
CRYAB
|
|
|
DLD
|
|
|
SARDH
|
|
|
DSG2
|
|
|
DSP
|
|
|
ECHS1
|
|
|
ELN
|
|
|
EMD
|
|
|
ERCC4
|
|
|
FANCA
|
|
|
FANCC
|
|
|
FANCD2
|
|
|
FANCE
|
|
|
FAH
|
|
|
FANCB
|
|
|
FANCF
|
|
|
FANCG
|
|
|
FASN
|
26670611 |
|
FHL1
|
|
|
FOS
|
|
|
FXN
|
|
|
GAA
|
26160551, 11328962 |
|
GATA4
|
|
|
GLA
|
17555407, 29018006, 20821055, 23568732, 11914245, 23109060, 19621417, 27532257, 27931613, 22437327, 28430823, 27595546, 7911050, 8395937, 7504405, 21972175, 10666480, 21598360, 28082092, 20031620, 11828341, 15702404, 19823873, 28377241, 27554049, 7575533 |
|
GLB1
|
|
|
GTF2I
|
|
|
HSD17B10
|
|
|
HADHA
|
|
|
HADH
|
|
|
HCCS
|
|
|
HLA-B
|
|
|
HRAS
|
16372351, 19206176, 16170316, 16329078, 16443854, 16969868, 17054105, 18039947, 16881968 |
|
HSPB1
|
9527842 |
|
HSPD1
|
9527842 |
|
IDH2
|
27469509 |
|
IL12B
|
|
|
INS
|
8660453 |
|
KCNJ8
|
|
|
KCNQ1
|
24183960 |
|
KRAS
|
|
|
LAMP2
|
18555174, 16217705, 20445193, 19318653, 21896538, 19373884, 15673802, 22695892 |
|
LIMK1
|
|
|
LMNA
|
|
|
MC2R
|
|
|
MIPEP
|
|
|
ATP6
|
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
ND1
|
|
|
ND2
|
|
|
ND3
|
|
|
ND4
|
|
|
ND5
|
|
|
ND6
|
|
|
TRNE
|
|
|
TRNF
|
|
|
TRNH
|
|
|
TRNK
|
|
|
TRNL1
|
|
|
TRNN
|
|
|
TRNQ
|
|
|
TRNS1
|
|
|
TRNS2
|
|
|
TRNV
|
|
|
TRNW
|
|
|
MYBPC3
|
28615295, 21165360, 9048664, 25443708, 20159828, 25566086, 18957093, 28193612, 20173211, 25637381, 27994558, 9241277, 18403758, 23690394, 25524337, 11835941, 9218526, 20019025, 18467358, 25583989, 14613868, 18258667, 20031602, 27532257, 20505798, 24793961, 12818575, 27737317, 24093860, 23549607, 23074333, 9562578, 11499718, 27834932, 27831900, 16061003, 23054336, 22455086, 23527136, 24510615, 25525159, 22907696, 10736283, 25351510, 18273486, 23140321, 21959974, 9503187, 7493025, 17081393, 22765922, 20474083, 24113344, 10424815, 30165862, 19590044, 25281569, 18409188, 19150014, 20128375, 20433692, 12788380, 21835320, 22112859, 28024942, 25849606, 16679492, 18809796, 12707239, 12202917, 2943217, 20864638, 21239446, 21425739, 11847170, 22574137, 27108529, 21750094, 27600940, 22076249, 12110947, 25335496, 11499719, 23674513, 28790153, 28797094, 23283745, 21415409, 21088121, 27096365, 23534983, 23299917, 21915287, 17908752, 15114369, 25031304, 14563344, 23816408, 25132132, 21817903, 28971120, 21551322, 22122802, 21835286, 29121657, 16181148, 27483260, 19151713, 20800588, 18374358, 16566405, 27885498, 16335287, 24704860, 10610770, 26914223, 15519027, 19808356, 18533079, 28356264, 19659763, 7493026, 21896538, 28771489, 23782526, 12386147, 28679633, 20031618, 11815426, 20414521, 28241245, 20359594, 17394878, 20624503, 15563892, 19574547, 29255176, 23980194, 21310275, 19273718, 20542340, 25086479, 20215591, 12787675, 22563033, 20738943, 24810389, 12601548, 25228707, 24111713, 26383716, 24602869, 20439259, 12951062, 23508784, 24865491, 22178992, 26090888, 12974739, 22857948, 9541104, 19858127, 20201939, 28658286, 16858239, 16715312, 20031619, 18803133, 22589294, 20378854, 15671604, 28420666, 22115648, 9631872, 19356534, 28538763, 15769446, 12628722, 23233322, 18761664, 21302287, 16199542, 21488307, 22267749, 25611685, 9541100, 23396983, 26671970, 23861362, 25078086, 25740977, 26688216, 24033266, 17937428, 18713777 |
|
MYC
|
22000973 |
|
MYH6
|
24309898, 10388558, 29741611, 11815426, 27483260, 15998695, 6234108 |
|
MYH7
|
27841901, 23396983, 22213221, 15563892, 25524337, 12473556, 23197398, 10065021, 9826622, 20031618, 17125710, 17438619, 16352453, 23580644, 23290139, 20428263, 8788376, 18953637, 28246639, 8533830, 18020371, 8614836, 9062359, 15556047, 20075948, 24268868, 22260945, 11113006, 27247418, 16630450, 16630449, 25714468, 21483645, 20800588, 25351510, 25031304, 12707239, 16267253, 9140824, 21216834, 21511876, 21750094, 9001794, 23140321, 17118657, 12974739, 18409188, 23283745, 10882745, 23798412, 21674835, 20975235, 10086390, 19134269, 11186938, 28606303, 24093860, 19843903, 22112859, 27532257, 24704860, 21839045, 18761664, 7731997, 7796500, 12951062, 24793961, 19150014, 16858239, 16715312, 25078086, 19880069, 10862102, 16199542, 10957787, 29686627, 22429680, 2062450, 29741611, 12566107, 23349452, 12820698, 9829907, 18383048, 29255176, 10764406, 25935763, 11227787, 18403758, 15858117, 18411228, 1552912, 8655135, 20309391, 24928957, 17599605, 25086479, 26573135, 29907873, 25342278, 20350521, 25214167, 16335287, 21395566, 25228707, 23816408, 19336582, 15856146, 18029407, 22464770, 23711808, 16650083, 21642240, 9874056, 21185001, 17097032, 10725281, 1944483, 17383184, 27161364, 23549607, 27483260, 28005231, 20394946, 16504640, 7883988, 8514894, 8483915, 24664454, 27788187, 20641121, 10567705, 12081993, 7874131, 21310275, 28498465, 23074333, 19645038, 10024460, 28202948, 27387980, 28449774, 12084606, 2144212, 19651039, 23674513, 24510615, 10328076, 21817903, 24865491, 23751935, 9822100, 15008060, 10750581, 17180650, 18258667, 7848441, 23782526, 1430197, 11968089, 24888384, 7789380, 17495353, 21425739, 20738943, 24111713, 17987111, 26914223, 17351073, 15358028, 25937619, 23233322, 15483641, 24621997, 20359594, 20376763, 1634614, 18533079, 20733148, 20819418, 11433818, 15550524, 14520662, 15699387, 21769673, 20594303, 21799269, 22958901, 29029073, 9154300, 11861413, 17612745, 11498078, 19808356, 26743238, 20215591, 20378854, 8281650, 29121657, 21835320, 25209314, 20646679, 23408646, 12953063, 27082122, 18506004, 19666645, 11904418, 20624503, 21239446, 8254035, 12975413, 15322983, 16938236, 20038417, 28296734, 11424919, 15000344, 12975303, 8435239, 24298987, 28790153, 17703256, 29497013, 18076673, 25574480, 23785128, 27600940, 30275503, 25611685, 16918501, 22765922, 23271734, 27688314, 8335820, 19586842, 24344137, 10521296, 29300372, 9140839, 21551322, 23690394, 8250038, 21252143, 11133230, 7581410, 11196015, 26187847, 1975517, 25637381, 9544842, 20865685, 22857948, 25189259, 19149795, 7662452, 10662815, 11377367, 23299917, 21896538, 25892673, 12818575, 15519027, 15528230, 17336526, 23197161, 25132132, 21302287, 9172070, 24829265, 1638703, 8282798, 8268932, 9058851, 15001446, 12881443, 29101517, 22735528 |
|
MYL2
|
12818575, 11102452, 9527842, 16751284, 9724616, 14594949, 23727233, 16076902, 12668451, 26914223, 9535554, 20855589, 10948063, 12404107, 18533079, 8673105, 27532257, 21835320, 18929571, 17606808, 21723297, 21896538, 26497160, 25611685, 23343568, 26187847 |
|
MYL3
|
19035361, 20031618, 25086479, 27483260, 21262909, 25342278, 22131351, 25611685, 11174330, 8417110, 12707239, 26443374, 27532257, 16267253, 18409188, 16675844, 25910212, 18403758, 21239446, 28658286, 23426552, 21823217, 26779504, 12021217, 9927691, 23283745, 8673105 |
|
MYL4
|
9527842 |
|
NAGA
|
|
|
NDUFA1
|
|
|
NDUFA2
|
|
|
NDUFA4
|
|
|
NDUFA6
|
|
|
NDUFA9
|
|
|
NDUFA10
|
|
|
NDUFB3
|
|
|
NDUFB8
|
|
|
NDUFB9
|
|
|
NDUFB10
|
|
|
NDUFS1
|
9527842 |
|
NDUFS2
|
|
|
NDUFS3
|
|
|
NDUFV1
|
|
|
NDUFS4
|
|
|
NDUFS6
|
|
|
NDUFS8
|
|
|
NDUFV2
|
|
|
NF1
|
|
|
NME1
|
9527842 |
|
NRAS
|
|
|
OPA1
|
|
|
PDHA1
|
|
|
SLC25A3
|
|
|
PLN
|
23861362, 21167350, 21332051, 12639993, 17655857, 16235537 |
|
PMM2
|
|
|
POMC
|
2831920, 8381257, 2853496, 8928979, 2536513 |
|
PPARG
|
|
|
PPP1CB
|
|
|
MAP2K1
|
|
|
MAP2K2
|
|
|
PTPN11
|
21910245, 23317994, 24767283, 24775816, 18849586, 12058348, 15712196, 14961557, 25544017, 27238887, 28681392, 21365175, 22555271, 19825837, 25884655, 24935154, 24037001, 16358218, 26337637, 16638574, 17935252, 24451042, 18372317, 25917897, 20535210, 20493809, 22585553, 22681964, 15520399, 27484170, 15121796, 16377799, 20883402, 20308328, 23457302, 19133693, 23813970, 22411627, 22190897 |
|
RAD51
|
|
|
RAD51C
|
|
|
RAF1
|
17603482, 17603483 |
|
RFC2
|
|
|
RGS3
|
23255317 |
|
RIT1
|
|
|
RYR2
|
26573135, 9607712 |
|
SCO1
|
|
|
SDHA
|
|
|
SDHB
|
|
|
SDHD
|
|
|
SLC9A1
|
19111554 |
|
SLC22A5
|
|
|
SOS1
|
|
|
STAR
|
|
|
SURF1
|
|
|
WWTR1
|
|
|
TBCA
|
9527842 |
|
MLX
|
|
|
TGFB1
|
|
|
KLF10
|
16888812, 28082330, 8532536, 26252173, 22234868, 20201061 |
|
TMPO
|
|
|
TNNC2
|
|
|
TNNC1
|
28473771, 26976709, 20566645, 21262074, 20925115, 26341255, 24260207, 16302972, 22489623, 23425245, 18572189, 27604170, 11385718, 20459070, 21056975, 26304555, 26779504, 22815480, 19439414, 28533433 |
|
TNNI3
|
16335287, 20800588, 12860912, 12746413, 21511876, 21533915, 19449150, 16199542, 22301726, 20641121, 16531415, 20161772, 25940119, 18548271, 19651143, 22876777, 19035361, 19289050, 27600940, 25524337, 16274223, 15698845, 16288990, 24510615, 15070570, 17932326, 11853553, 17027633, 23906401, 27532257, 16950368, 22675533, 18801787, 12044157, 21896538, 22429680, 27557662, 23540544, 25611685, 11815426, 12242271, 22086914, 15961398, 18403758, 23967088, 17463320, 20569525, 16020591, 20624503, 21310275, 26914223, 18409188, 19645627, 3144325, 9241277, 15607392, 16352453, 11801593, 15992656, 20617149, 23270746, 18430738, 18408133, 20031618, 11055985, 19715700, 15718266, 12531876, 15867176, 21239446, 18269819, 11724573, 17599605, 26169204, 24113344, 11735257, 10731705, 21799269, 12707239, 28790153, 10806205, 14575308 |
|
TNNT2
|
22334656, 16115294, 17932326, 10449439, 15923195, 11606294, 19880069, 19150014, 24367593, 18533079, 18029407, 16538283, 18506004, 27721798, 22675533, 17612745, 12860912, 27532257, 11158969, 14654368, 10529204, 26914223, 12707239, 8205619, 24691700, 15623536, 14722098, 15769782, 12746413, 20439259, 11060294, 19253838, 12084606, 14636924, 23494605, 10521296, 10731693, 20624503, 28973951, 19087273, 23539503, 18651846, 23396983, 15563892, 28073646, 10525521, 23074333, 18809796, 14640471, 18258667, 19996403, 22321274, 11968089, 23283745, 19914256, 7898523, 20414521, 22857948, 12473556, 23233322, 9201030, 28420666, 9637714, 21245263, 16326803, 10085122, 8951566, 15568820, 22579624, 19487599, 11684629, 11346248, 11113119, 26507537, 12923187, 17456375, 25524337, 11560853, 12186860, 20031602, 28735292, 10330428, 10405326, 8958207, 10617660, 15631686, 21185001, 11034944, 18403758, 9060892, 1934353 |
|
TP53
|
22000973 |
|
TPI1
|
|
|
TPM1
|
27057166, 20031602, 8774330, 21642532, 21376702, 11045979, 24510615, 12473556, 25524337, 22789852, 21320446, 16504640, 15249230, 25548289, 26960954, 7729014, 27532257, 12651045, 9060904, 9822100, 21551322, 8205619, 11136687, 8523464, 9440709, 12423715, 22794249, 25241052, 15059934, 11603924, 28615295, 25611685, 23508784, 21295541, 22462493, 10400910, 16365313, 22155441, 16014439, 12860912, 8327508, 18409188, 14734051, 22187526, 21310275 |
|
TTN
|
17261657, 27625337, 15582318, 8631348, 10462489, 21297871, 19608031, 19679835, 25613900 |
|
TTPA
|
|
|
VCL
|
27503891, 17097056, 16949038 |
|
CLIP2
|
|
|
XRCC2
|
|
|
SHOC2
|
|
|
TCAP
|
9350988, 16352453, 12507422, 15582318 |
|
MYOM1
|
21256114, 21069531 |
|
BAZ1B
|
|
|
AIP
|
|
|
BAG3
|
|
|
GTF2IRD1
|
|
|
SCO2
|
14970747, 11027508 |
|
ABCC9
|
|
|
MAD2L2
|
|
|
RNASEH2A
|
|
|
AGPAT2
|
|
|
TXNRD2
|
|
|
LIAS
|
|
|
RASSF1
|
19652091 |
|
MRPL3
|
|
|
TREX1
|
|
|
FASTKD2
|
|
|
PMPCA
|
|
|
SYNE2
|
|
|
VPS13A
|
|
|
SYNE1
|
|
|
MLYCD
|
|
|
HEY2
|
20001863 |
|
NNT
|
|
|
MTO1
|
|
|
NDUFAF3
|
|
|
SAMHD1
|
|
|
BSCL2
|
|
|
TBL2
|
|
|
ANKRD1
|
23572067, 25613900, 19608031 |
|
COQ2
|
|
|
PDLIM3
|
20801532, 9334352 |
|
ACAD9
|
|
|
NDUFAF4
|
|
|
UBE2T
|
|
|
NDUFA13
|
|
|
NDUFAF1
|
|
|
TACO1
|
|
|
TIMMDC1
|
|
|
PRKAG2
|
16716659, 11112354, 7657794, 14519435, 27532257, 11827995, 16339829, 14722619, 11371514, 23778007, 15611370, 17711718, 26729852, 15877279, 11407343, 19808419, 19787389, 17597581, 23741347, 28009297, 23829931, 16487706, 25092788, 12782567, 20005292, 16836667, 25611685, 17483151, 15673802, 18403758, 20600102, 20031621 |
|
LIPT1
|
|
|
SUFU
|
|
|
MYOZ2
|
22987565, 18591919, 11114196, 17347475 |
|
NDUFB11
|
|
|
TMEM70
|
|
|
FANCL
|
|
|
RFWD3
|
|
|
ATAD3A
|
27640307 |
|
FANCI
|
|
|
SLC30A10
|
|
|
FOXRED1
|
|
|
AGK
|
|
|
TMEM126B
|
|
|
NDUFA12
|
|
|
ALG1
|
|
|
MRAP
|
|
|
MRPS22
|
|
|
AARS2
|
|
|
ALPK3
|
11418590, 27106955, 21441111, 26846950 |
|
FANCM
|
|
|
MYL7
|
9527842 |
|
ELAC2
|
|
|
MRPS14
|
|
|
IFIH1
|
|
|
MRPL44
|
|
|
VPS33A
|
|
|
FTO
|
|
|
NDUFAF5
|
|
|
GNPTAB
|
|
|
TMEM43
|
|
|
RNASEH2B
|
|
|
PALB2
|
|
|
FHOD3
|
31742804, 23255317 |
|
NUBPL
|
|
|
SLC19A3
|
|
|
SLC2A10
|
|
|
GPR101
|
|
|
BRIP1
|
|
|
OBSCN
|
16205939, 11448995, 26573135, 17716621 |
|
KAT8
|
27768893 |
|
RNASEH2C
|
|
|
COA8
|
|
|
SLX4
|
|
|
MYPN
|
22286171, 11309420 |
|
TRIM63
|
11679633, 15601779, 22821932, 25801283 |
|
COX14
|
|
|
MYLK2
|
11029314, 21696541, 11733062, 18202317, 18474588, 10655107, 28082330 |
|
ATPAF2
|
|
|
NDUFAF2
|
|
|
COG7
|
|
|
COX20
|
|
|
MTFMT
|
|
|
CALR3
|
17655857 |
|
NDUFA11
|
|
|
NDUFAF6
|
|
|
TAPT1
|
|
|
NEK8
|
|
|
CAVIN1
|
|
|
NDUFS7
|
|
|
CEP85L
|
17655857, 21167350, 21332051, 23861362, 16235537, 12639993 |
|
COA6
|
|
|
BOLA3
|
|
|
COA5
|
|
|
SDHAF1
|
|
|
PET100
|
|
|
RPL36A-HNRNPH2
|
21598360, 7911050, 17555407, 27532257, 22437327, 19823873, 21972175, 10666480, 8395937, 11914245, 20031620, 23568732, 28377241, 19621417, 7504405, 29018006, 27931613, 15702404, 27595546, 11828341, 28082092, 7575533, 28430823, 27554049, 20821055, 23109060 |
| Familial Hypertrophic Cardiomyopathy Type 4 |
C1861862 |
BRAF
|
|
|
MYBPC3
|
18957093, 18533079, 15519027, 14563344, 22115648, 20173211, 24033266, 9562578, 11499719, 9631872, 11815426, 24464755, 20505798, 18374358, 22907696, 20359594, 27532257, 21839045, 21302287, 17908752, 27483260, 21835320, 15249187, 16335287, 25210889, 15358028, 26358504, 12117842, 12974739, 25637381, 23054336, 20433692, 20530761, 12707239, 20378854, 20031618, 7493025, 26090888, 12818575, 20738943, 23283745, 24093860, 16831826, 21511876, 25971843, 15769446, 25031304, 10424815, 28265379, 19273718, 25740977, 18929575, 25335496, 19808356, 18403758, 12628722, 9541115, 15563892, 16566405, 20186049, 9048664, 12881443, 23396983, 18409188, 17560888, 19356534, 16004897, 8655135, 20045868, 10610770, 12951062, 22057632, 22267749, 19574547, 25856671, 21239446, 25611685, 18337725, 2073894, 22765922, 9541104, 23980194, 7744002, 20474083, 24793961, 14613868, 19858127, 21185001, 19150014, 20624503, 25741868, 25342278, 18414213, 27650965, 11230104, 11499718, 16199542, 12379228, 15114369, 12601548, 15856146, 9440712, 30681346, 24510615, 20031602, 16858239, 7493026, 23711808, 11909824, 20159828, 25524337, 23782526, 23861362, 23840593, 23299917 |
|
NCF1
|
|
| Hypertrophic obstructive cardiomyopathy |
C4551472 |
FASN
|
26670611 |
|
GAA
|
11328962 |
|
HSPB1
|
9527842 |
|
HSPD1
|
9527842 |
|
IDH2
|
27469509 |
|
INS
|
8660453 |
|
MYBPC3
|
22076249, 23816408, 27994558, 25566086 |
|
MYC
|
22000973 |
|
MYH6
|
15998695, 29741611 |
|
MYH7
|
29686627, 29741611 |
|
MYL2
|
9527842 |
|
MYL4
|
9527842 |
|
NDUFS1
|
9527842 |
|
NME1
|
9527842 |
|
POMC
|
8928979, 2831920, 2536513, 2853496, 8381257 |
|
RAF1
|
17603483, 17603482 |
|
SLC9A1
|
19111554 |
|
TBCA
|
9527842 |
|
TNNT2
|
19087273 |
|
TP53
|
22000973 |
|
SCO2
|
14970747, 11027508 |
|
RASSF1
|
19652091 |
|
HEY2
|
20001863 |
|
MYL7
|
9527842 |
|
KAT8
|
27768893 |
| Hypertrophic cardiomyopathy without obstruction |
C0340425 |
PTPN11
|
11704759, 16166557, 17641779, 12634870, 11992261, 17020470, 15834506 |
| NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy |
155 |
FLNC
|
|
|
LDB3
|
|
|
ACTN2
|
|
|
NEBL
|
|
|
ACTC1
|
|
|
MYH7
|
|
|
TNNI3
|
|
|
CAV3
|
|
|
TCAP
|
|
|
TPM1
|
|
|
TNNT2
|
|
|
TTN
|
|
|
CSRP3
|
|
|
MYL2
|
|
|
MYH6
|
|
|
PRKAG2
|
|
|
MYL3
|
|
|
MYLK2
|
|
|
FHL1
|
|
|
TNNC1
|
|
|
VCL
|
|
|
PLN
|
|
|
NEXN
|
|
|
MYOZ2
|
|
|
JPH2
|
|
|
CALR3
|
|
|
MYPN
|
|
|
MYBPC3
|
|
| Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency |
352563 |
MRPL44
|
|
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22 |
C3714998 |
MYPN
|
|
