Hypercholesterolemia

Disease Term Disease ID Gene Symbol Classification References Source
Familial hypercholesterolemia - homozygous C0342881 APOB Causal Pathogenic evidence from ClinVar 1360085, 1466657, 1793440, 1977310, 2563166, 7627691, 8254047, 8318993, 8371062, 8723684, 8831935, 9104431, 9191540, 9339363, 9654205, 9702952, 10208479, 10388479, 10529757, 10735632, 11115503, 11137107, 11238294, 11494965, 11781700, 11833852, 17142622, 17539906, 17765246, 17964958, 18028451, 18096825, 18700895, 20145306, 20236128, 20538126, 20809525, 21310417, 21376320, 21657943, 22244043, 22294733, 22353362, 22408029, 22698793, 22883975, 23054246, 23064986, 23130880, 23375686, 24234650, 24507774, 24784157, 24987033, 25461735, 26036859 ClinVar
LDLR Causal Pathogenic evidence from ClinVar 1301940, 1301956, 1352322, 1464748, 1830890, 2088165, 2318961, 2352257, 2569482, 2726768, 2760205, 2920733, 3025214, 3202825, 4061492, 7489239, 7573037, 7616128, 7635461, 7649549, 7718019, 7749829, 7903864, 8054972, 8093663, 8096412, 8098448, 8399083, 8645371, 8882879, 9026534, 9259195, 9272705, 9452095, 9654205, 9664576, 9678702, 9712531, 9727746, 9763532, 9767373, 9974426, 10090473, 10090484, 10208479, 10422803, 10422804, 10441197, 10532689, 10559517, 10657581, 10704205, 10735632, 10882754, 10978268, 11040093, 11052664, 11139254, 11196104, 11317361, 11317362, 11462246, 11668627, 11668640, 11754108, 11810272, 11851376, 11857755, 11933210, 12124988, 12406975, 12436241, 12730724, 14974088, 15100232, 15199436, 15200491, 15241806, 15359125, 15523646, 15528480, 15556094, 16159606, 16183066, 16205024, 16250003, 16389549, 16542394, 17087781, 17094996, 17142622, 17196209, 17347910, 17539906, 17765246, 18096825, 18263977, 18503695, 18718593, 19007590, 19026292, 19148831, 19208450, 19318025, 19319977, 19361455, 194115 ClinVar
LDLRAP1 Causal Pathogenic evidence from ClinVar 11326085 ClinVar
PCSK9 Causal Pathogenic evidence from ClinVar 17316651, 20006333, 21146822, 24859021, 25962062, 26374825 ClinVar
ABCG5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20172523 -
ABCG8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20172523 -
Hypercholesterolemia C0020443 APOB Causal Pathogenic evidence from ClinVar 1600334, 23433573, 25414277 ClinVar
LDLR Causal Pathogenic evidence from ClinVar 18450471, 20530721, 22884763, 23433573, 25414277, 26875785 ClinVar
LDLRAP1 Causal Pathogenic evidence from ClinVar 12417523 ClinVar
PCSK9 Causal Pathogenic evidence from ClinVar 12730697, 23433573 ClinVar
STAP1 Causal Pathogenic evidence from ClinVar 25170087 ClinVar
ABCA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22022523 -
ABCG5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABCG8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25414277 -
ALB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ANGPTL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
APOA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
APOA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
APOC3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
APOE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11397713, 21043830, 22022523, 22228805 -
APTX Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CAV1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CAV3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CCDC115 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CES1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12773168 -
CETP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hypercholesterolemia, Familial C0020445 APOB Causal Pathogenic evidence from ClinVar 2563166, 9603795, 10952765, 11115503, 11494965, 11781700, 17160438, 22353362, 23375686, 23433573, 24987033, 25414277, 26036859, 27783906 ClinVar
LDLR Causal Pathogenic evidence from ClinVar 1057090, 1301940, 1301956, 1310940, 1319734, 1352322, 1446662, 1453433, 1493640, 1634609, 1677927, 1714262, 1734722, 1867200, 1884514, 1959928, 2029498, 2088165, 2318961, 2565980, 2569482, 2600087, 2698793, 2726768, 2760205, 2799589, 2901412, 3025214, 3263645, 3343347, 3430554, 3495735, 3924410, 3955657, 4750422, 7489239, 7545204, 7548065, 7557960, 7573037, 7581403, 7583548, 7586640, 7603991, 7616128, 7635461, 7635482, 7649546, 7649549, 7709162, 7718019, 7718023, 7718024, 7773731, 7789953, 7833932, 7866407, 7894220, 7903864, 7947594, 7979249, 8004803, 8005585, 8093663, 8096412, 8098448, 8103503, 8141835, 8168830, 8225312, 8292093, 8314561, 8347689, 8462973, 8478013, 8535447, 8568489, 8599353, 8645371, 8645375, 8664907, 8678915, 8697568, 8740918, 8740919, 8784348, 8792825, 8828981, 8828982, 8829662, 8831933, 8850176, 8872473, 8882879, 8956037, 9016531, 9026534, 9039985, 9090532, 9104431, 9143924, 9147888, 9157944, 9180246, 9195230, 9212177, 9222758, 9225977, 9237502, 9237510, 9254862, 9259195, 9261272, 9409298 ClinVar
LDLRAP1 Causal Pathogenic evidence from ClinVar 12417523 ClinVar
PCSK9 Causal Pathogenic evidence from ClinVar 22683120, 23433573, 24115837, 26036859, 26374825, 27998977 ClinVar
STAP1 Causal Pathogenic evidence from ClinVar 26036859 ClinVar
ABCA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16030523 -
ABCG5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27604308 -
ABCG8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27604308 -
APOA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12522687 -
APOA4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16030523 -
APOC3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16030523 -
APOE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16030523 -
C3P1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22968135 -
CACNA1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22968135 -
CARM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22968135 -
CDC37 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22968135 -
Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B C3888316 APOB Causal Pathogenic evidence from ClinVar 2563166, 3477815, 7627691, 8134359, 9486979, 9603795, 15135245, 22408029, 24234650, 24498611 ClinVar
NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia 406 APOB Causal Pathogenic evidence from ClinVar - ClinVar
LDLR Causal Pathogenic evidence from ClinVar - ClinVar
PCSK9 Causal Pathogenic evidence from ClinVar - ClinVar
STAP1 Causal Pathogenic evidence from ClinVar - ClinVar
APOE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE C1863512 LDLRAP1 Causal Pathogenic evidence from ClinVar 11326085, 12016260, 12417523, 12464675, 12788851, 15485476, 21872251, 22157599, 27247956, 29245109 ClinVar
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 C1863551 PCSK9 Causal Pathogenic evidence from ClinVar 12730697, 16183066, 16909389, 17765244, 18266662, 18631360, 18799458, 19081568, 20006333, 22683120, 23375686, 23433573, 23680767, 24607922, 24808179, 25014035, 26374825, 27206942, 27280970, 27896130, 28777095 ClinVar