Hypercholesterolemia

Disease Term Disease ID Gene Symbol References
Hypercholesterolemia C0020443 ABCA1 22022523
JAG1
ALB
APOA1
APOA2
APOB 1600334, 23433573, 25414277
APOC3
APOE 21043830, 11397713, 22228805, 22022523
CAV1
CAV3
SCARB1
CES1 12773168
CETP
COL3A1 21852083
CTF1 21803294
CYP7A1 8245718
CYP27A1
EDN1 15486036
EPHX2
FLII
GHR
GPD1
HMGCR 8593127
ICAM1 14602771
LCAT
LDLR 20530721, 25414277, 22884763, 23433573, 26875785, 18450471
LEP 25086370
LIPA
LIPC
LMNA
LPA 12697372
LPL 21852083
LRP6
MEF2A
MTTP
MYLK 21052790
OCRL
PHKA2
PHKG2
PON1 16229851
PYGL
SELE 14602771
TTPA
VCAM1 14602771
NR4A3 16005304
DGAT1
SLC7A7
DYRK1B
SLC25A13
DEAF1
RAI1
PPP1R17
SETX
IQSEC2
PIK3R5
COG4
LDLRAP1 12417523
STAP1 25170087
NOX1 20832062
ANGPTL3
SAR1B
APTX
TDP1
NUP107
ABCG5
ABCG8 25414277
LMF1
CCDC115
TMEM199
PCSK9 12730697, 23433573
RSPO1
GPIHBP1
NCF1 14871415
MIR6886
Hypercholesterolemia, Familial C0020445 ABCA1 16030523
APOA2 12522687
APOA4 16030523
APOB 23433573, 26036859, 25414277, 17160438, 23375686, 11115503, 10952765, 2563166, 24987033, 11494965, 11781700, 27783906, 22353362, 9603795
APOC3 16030523
APOE 16030523
CACNA1A 22968135
CETP 16030523
FARSA 22968135
HMGCR 12477733
ICAM3 22968135
LDLR 10441197, 8882879, 9452095, 2799589, 19361455, 11381031, 21310417, 7649546, 17964958, 16627557, 25545329, 9664576, 20045108, 23680767, 9212177, 16343504, 2569482, 16465405, 18243212, 24373485, 17694954, 27919364, 16542394, 19487412, 19007590, 28028493, 9544850, 18325082, 21925660, 9259195, 21990180, 3924410, 16389549, 11600564, 19073363, 3495735, 19208450, 12485531, 24956927, 15890894, 11668627, 9974426, 10924730, 24163242, 18929537, 15200491, 7635461, 22353362, 11737238, 25647241, 20236128, 11139254, 7903864, 18700895, 20452591, 1301956, 10790219, 11754108, 9763532, 8828982, 8093663, 1959928, 22160468, 22129472, 15823276, 8098448, 25911074, 21925044, 18847225, 1493640, 18096825, 9452078, 9852677, 8831933, 23669246, 25487149, 22425645, 15256764, 10882754, 12436241, 23064986, 4750422, 15576851, 20809525, 7581403, 28932795, 9484998, 2760205, 10926901, 10532689, 8829662, 17347910, 23375686, 9237502, 8740918, 9016531, 22528129, 9676383, 23158915, 8478013, 16205024, 19837725, 9261272, 12227864, 21382890, 15701167, 10657581, 12205127, 1310940, 18206115, 8697568, 3025214, 28379029, 15015036, 9767373, 2565980, 9733232, 20828696, 8168830, 21722902, 15823280, 1301940, 7718019, 15241806, 22311046, 12553167, 25437892, 19446849, 10206683, 26036859, 10634824, 16250003, 24420163, 25624525, 23130880, 18263977, 3955657, 10090473, 9430375, 21145767, 11506462, 14624402, 7789953, 17406740, 8535447, 17196209, 18648394, 21511053, 11313767, 17539906, 15359125, 9727746, 7545204, 9409298, 10735632, 3430554, 7894220, 11196104, 11013454, 7649549, 12673584, 9452094, 11005141, 29233637, 11641914, 20703241, 25936317, 8292093, 15556094, 7548065, 8740919, 9180246, 2901412, 26077743, 17087781, 9039985, 8645375, 10782930, 12009418, 9026534, 2318961, 22883975, 11317361, 15556092, 7979249, 21418584, 9660059, 19026292, 12477733, 9222758, 28104544, 1884514, 19843101, 14974088, 14749324, 25412742, 14209286, 10090484, 1867200, 22095935, 17142622, 7586640, 10447263, 7947594, 10978268, 12417285, 18677035, 15823288, 25154303, 1319734, 27784735, 2726768, 11194025, 12406975, 11040093, 21642693, 9544745, 15100232, 25463123, 16806138, 27824480, 25637381, 10422803, 15199436, 11933210, 2088165, 11462246, 25014035, 9412789, 9654205, 23535506, 26927322, 10208479, 9767370, 2698793, 8872473, 12052488, 10200052, 1714262, 17335829, 28502510, 9157944, 15556093, 9090532, 22544571, 30586733, 10407508, 22390909, 12837857, 9500809, 10422802, 12522687, 9889019, 24450200, 8664907, 7573037, 10066037, 22859806, 26020417, 8678915, 28159968, 29213121, 25234566, 25962062, 18339137, 8005585, 15477777, 11031227, 11257256, 11851376, 26510755, 12414836, 26802169, 27294413, 28126585, 27680772, 25043216, 19371225, 11810272, 25682026, 11857755, 16286607, 10660340, 9147888, 15885240, 7718023, 14570618, 19319977, 17673191, 8828981, 9409302, 8141835, 10422804, 1057090, 16314194, 9698020, 17426749, 23430853, 23340035, 23815734, 21865347, 26081744, 18239150, 10980548, 20145306, 18400033, 8599353, 29576406, 9538514, 17765246, 17445538, 9225977, 8314561, 26632531, 11916007, 15523646, 7489239, 20018285, 11295843, 27816806, 21457052, 17094996, 19118540, 9678702, 24014831, 28235710, 19013141, 2600087, 1352322, 26343872, 14993243, 14508510, 7616128, 9143924, 11373616, 21376320, 10208490, 27206935, 11298688, 8784348, 15497035, 24627126, 18279815, 9237510, 1453433, 27783906, 11668640, 18718593, 8850176, 10089940, 22509010, 7603991, 9544746, 21157333, 27578104, 11317362, 16159606, 25461735, 26723464, 9195230, 22698793, 10487495, 8645371, 26361156, 27765764, 26892515, 23833242, 20506408, 8956037, 19318025, 25378237, 22881376, 9684750, 8347689, 20538126, 20736250, 8096412, 20663204, 7583548, 7718024, 9254862, 7866407, 16211558, 20019594, 24075752, 20144596, 12124988, 11310584, 14512370, 26238499, 19411563, 7773731, 21276076, 8792825, 8103503, 12113284, 26342331, 10559517, 24722143, 11194027, 1734722, 19717150, 8004803, 11484166, 10704205, 3343347, 8462973, 9104431, 10611908, 25846081, 11472756, 1677927, 23021490, 26046366, 17935672, 24918045, 26433113, 19467224, 18757057, 7709162, 23369702, 8568489, 27831900, 25921077, 30293936, 27578127, 1634609, 10570905, 11642133, 23433573, 19538517, 28458923, 15864114, 10668928, 21475731, 8225312, 7557960, 2029498, 10952765, 16092059, 22417841, 7635482, 21872251, 20217239, 23155708, 25936346, 25414277, 7833932, 9712531, 31689621, 11435110, 12730724, 22294733, 10611909, 3263645, 10807540, 28391882, 1446662, 21955034, 25807990, 19797716
LIPC 16030523
LPL 16030523
PDE4A 22968135
PON1 16238680, 16030523
PON2 16030523
PRKCSH 22968135
SREBF2 11950857
TYK2 22968135
CARM1 22968135
CDC37 22968135
KANK2 22968135
LDLRAP1 12417523
STAP1 26036859
ZNF562 22968135
ZNF823 22968135
ZNF317 22968135
ABCG5 27604308
ABCG8 27604308
ZNF561 22968135
RAVER1 22968135
ZNF563 22968135
ZNF846 22968135
PCSK9 27998977, 26374825, 23433573, 22683120, 24115837, 26036859
ZNF561-AS1 22968135
C3P1 22968135
MIR6886 7616128, 22390909, 21475731, 10090473, 10735632, 25154303, 15241806, 8872473, 11668640, 19411563, 21382890, 12436241, 11857755, 26036859, 15199436, 9254862, 19318025
Familial hypercholesterolemia - homozygous C0342881 APOB 24234650, 17964958, 11494965, 8371062, 9191540, 11137107, 8318993, 25461735, 11238294, 22353362, 2563166, 10529757, 24784157, 10208479, 8723684, 22408029, 1793440, 18096825, 11833852, 23054246, 22294733, 26036859, 11115503, 8831935, 24507774, 9702952, 9339363, 17539906, 7627691, 23130880, 20145306, 9104431, 21657943, 10735632, 11781700, 22244043, 20538126, 21376320, 23064986, 18028451, 1977310, 22698793, 17765246, 23375686, 24987033, 1360085, 9654205, 22883975, 21310417, 17142622, 18700895, 8254047, 20809525, 1466657, 10388479, 20236128
LDLR 20145306, 7649549, 8882879, 11462246, 22353362, 16159606, 27247956, 27765764, 23375686, 21376320, 19446849, 22883975, 25647241, 24627126, 7903864, 28965616, 17087781, 15199436, 9026534, 27784735, 11810272, 8093663, 10090473, 27824480, 15241806, 10208479, 10532689, 4061492, 11754108, 12124988, 19026292, 2569482, 22095935, 17196209, 19319977, 11668627, 20506408, 1830890, 25461735, 21418584, 21925044, 11317362, 10882754, 28349240, 25487149, 21642693, 21935675, 26036859, 8098448, 9654205, 3025214, 10978268, 1352322, 25463123, 11040093, 9763532, 26892515, 24281370, 3202825, 27816806, 24014831, 18503695, 21310417, 10735632, 20538126, 19843101, 8399083, 2318961, 10422804, 22698793, 21475731, 1301956, 20828696, 15200491, 12436241, 25637381, 27680772, 21531209, 8054972, 8645371, 18263977, 10657581, 16389549, 15359125, 16250003, 25412742, 28145427, 9678702, 15556094, 23064986, 20809525, 21865347, 11317361, 23680767, 16183066, 11851376, 28391882, 21990180, 22390909, 11933210, 22294733, 7616128, 23510778, 7489239, 16205024, 23669246, 11857755, 19148831, 19411563, 26020417, 21145767, 18096825, 10704205, 25525159, 15100232, 24507775, 25378237, 1301940, 28169869, 19007590, 2352257, 28964736, 9452095, 25962062, 9727746, 10441197, 9767373, 25545329, 12406975, 20663204, 28028493, 20236128, 9664576, 19318025, 11668640, 28235710, 7635461, 27542166, 28126585, 11196104, 2726768, 11139254, 23155708, 19361455, 28104544, 24956927, 7718019, 7573037, 28379029, 11052664, 9974426, 17347910, 12730724, 1464748, 26927322, 21382890, 10422803, 9712531, 9272705, 28008010, 14974088, 17142622, 9259195, 28502510, 2760205, 10090484, 17539906, 2920733, 16542394, 17765246, 25921077, 19538517, 8096412, 10559517, 18718593, 29233637, 17094996, 15528480, 7749829, 15523646, 2088165, 19208450
LDLRAP1 11326085
ABCG5 20172523
ABCG8 20172523
PCSK9 24859021, 26374825, 25962062, 21146822, 20006333, 17316651
MIR6886 10441197, 22390909, 10090473, 19208450, 10735632, 25525159, 7616128, 19411563, 25637381, 24627126, 26036859, 11668640
Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B C3888316 APOB 3477815, 15135245, 8134359, 22408029, 7627691, 9486979, 9603795, 2563166, 24234650, 24498611
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE C1863512 LDLRAP1 12788851, 21872251, 12464675, 11326085, 12417523, 15485476, 29245109, 27247956, 22157599, 12016260
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 C1863551 PCSK9 25014035, 28777095, 27206942, 18631360, 16183066, 23433573, 23680767, 26374825, 20006333, 12730697, 22683120, 19081568, 27896130, 16909389, 24607922, 23375686, 18799458, 17765244, 18266662, 27280970, 24808179
NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia 406 STAP1
APOB
APOE
LDLR
PCSK9
LIPA
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency C4751204, 209902 CYP7A1 12093894, 27604308