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	hypercholesterolemia, familial

Disease ID	1042
Disease	hypercholesterolemia, familial
Definition	Hypercholesterolemia that is caused by mutation in the LOW DENSITY LIPOPROTEIN RECEPTOR gene. This receptor defect prevents LDL binding to the cell membrane and uptake of cholesterol which normally suppresses further cholesterol synthesis.
Synonym	density lipoproteinemia, hyper-low density lipoproteinemias, hyper-low essential familial hypercholesterolaemia essential familial hypercholesterolemia essential hypercholesterolemia essential hypercholesterolemias familial hyperbetalipoproteinaemia familial hyperbetalipoproteinaemia (disorder) familial hyperbetalipoproteinemia familial hypercholesteremia familial hypercholesterolaemia familial hypercholesterolemia familial hypercholesterolemia (disorder) familial hypercholesterolemias familial hypercholesterolemic xanthomatoses familial hypercholesterolemic xanthomatosis familial hyperlipoproteinemia type ii hyper beta lipoproteinemia hyper low density lipoproteinemia hyper-beta-lipoproteinemia hyper-beta-lipoproteinemias hyper-low density lipoproteinemia hyper-low density lipoproteinemias hyper-low-density-lipoproteinemia hyper-low-density-lipoproteinemias hyperbetalipoproteinaemia hyperbetalipoproteinemia hyperbetalipoproteinemia (disorder) hyperbetalipoproteinemias hypercholesterolemia, essential hypercholesterolemia, essential familial hypercholesterolemias, essential hypercholesterolemias, familial hypercholesterolemic xanthomatoses, familial hypercholesterolemic xanthomatosis, familial hyperlipidemia type ii hyperlipoproteinemia type 02 hyperlipoproteinemia type 2 hyperlipoproteinemia type 2s hyperlipoproteinemia type ii hyperlipoproteinemia type ii [disease/finding] hyperlipoproteinemia type iis hyperlipoproteinemia, type ii hyperlipoproteinemias, type ii ldl - low density lipoprotein receptor disorder ldl receptor disorder lipoproteinemia, hyper-low density lipoproteinemias, hyper-low density low density lipoprotein catabolic defect type 2, hyperlipoproteinemia type ii hyperlipidemia type ii hyperlipoproteinemia type ii hyperlipoproteinemias xanthomatoses, familial hypercholesterolemic xanthomatosis, familial hypercholesterolemic
OMIM	OMIM:143890
DOID	DOID:13810
UMLS	C0745103
MeSH	D006938
SNOMED-CT	SNOMEDCT_US_2016_09_01:398036000;SNOMEDCT_US_2016_09_01:190773008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:32) C0007222 \| cardiovascular disease \| 7 C0042373 \| vascular disease \| 7 C0010068 \| coronary artery disease \| 5 C0004153 \| atherosclerosis \| 5 C0027051 \| myocardial infarction \| 2 C0027051 \| myocardial infarct \| 2 C0007222 \| cardiovascular diseases \| 2 C1704436 \| peripheral arterial disease \| 2 C0852949 \| arterial disease \| 2 C0010054 \| coronary atherosclerosis \| 2 C0003507 \| aortic stenosis \| 2 C0011847 \| diabetes \| 2 C0042373 \| vascular diseases \| 2 C0010068 \| coronary disease \| 1 C0010068 \| coronary heart disease \| 1 C0018799 \| heart disease \| 1 C0162871 \| abdominal aortic aneurysm \| 1 C0026848 \| myopathy \| 1 C0011860 \| type 2 diabetes \| 1 C0043325 \| xanthomatosis \| 1 C0003864 \| arthritis \| 1 C0003507 \| valvular aortic stenosis \| 1 C0027051 \| heart attack \| 1 C0007282 \| carotid stenosis \| 1 C0020443 \| elevated cholesterol \| 1 C1704436 \| peripheral arterial diseases \| 1 C0003486 \| aortic aneurysm \| 1 C0003873 \| rheumatoid arthritis \| 1 C0006142 \| breast cancer \| 1 C0155626 \| acute myocardial infarction \| 1 C0026265 \| mitral valve disease \| 1 C0003972 \| atherosclerotic cardiovascular disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:16) 338 \| APOB \| CLINVAR;CTD_human 5444 \| PON1 \| CTD_human 255738 \| PCSK9 \| CLINVAR 348 \| APOE \| CTD_human 19 \| ABCA1 \| CTD_human 3990 \| LIPC \| CTD_human 2053 \| EPHX2 \| CLINVAR 336 \| APOA2 \| CLINVAR;CTD_human 3949 \| LDLR \| CLINVAR;CTD_human 2690 \| GHR \| CLINVAR 4023 \| LPL \| CTD_human 5445 \| PON2 \| CTD_human 1071 \| CETP \| CTD_human 26228 \| STAP1 \| CLINVAR 345 \| APOC3 \| CTD_human 337 \| APOA4 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:14) 19 \| ABCA1 \| CIPHER;CTD_human 3949 \| LDLR \| CIPHER;CTD_human 4846 \| NOS3 \| CIPHER 338 \| APOB \| CIPHER;CTD_human 1071 \| CETP \| CIPHER;CTD_human 4023 \| LPL \| CIPHER;CTD_human 255738 \| PCSK9 \| CIPHER 3990 \| LIPC \| CTD_human 5444 \| PON1 \| CTD_human 5445 \| PON2 \| CTD_human 348 \| APOE \| CTD_human 336 \| APOA2 \| CTD_human 337 \| APOA4 \| CTD_human 345 \| APOC3 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:31) 19 \| ABCA1 \| 1.937 \| DISEASES 20 \| ABCA2 \| 2 \| DISEASES 27329 \| ANGPTL3 \| 2.434 \| DISEASES 337 \| APOA4 \| 1.027 \| DISEASES 55911 \| APOBR \| 2.744 \| DISEASES 344 \| APOC2 \| 1.08 \| DISEASES 9557 \| CHD1L \| 1.363 \| DISEASES 22796 \| COG2 \| 5.246 \| DISEASES 1506 \| CTRL \| 1.633 \| DISEASES 8029 \| CUBN \| 1.122 \| DISEASES 83658 \| DYNLRB1 \| 1.743 \| DISEASES 338328 \| GPIHBP1 \| 1.91 \| DISEASES 3638 \| INSIG1 \| 1.39 \| DISEASES 3699 \| ITIH3 \| 2.194 \| DISEASES 3949 \| LDLR \| 6.187 \| DISEASES 26119 \| LDLRAP1 \| 4.36 \| DISEASES 3980 \| LIG3 \| 2.324 \| DISEASES 8825 \| LIN7A \| 2.03 \| DISEASES 3988 \| LIPA \| 1.101 \| DISEASES 4018 \| LPA \| 3.343 \| DISEASES 9404 \| LPXN \| 1.768 \| DISEASES 4043 \| LRPAP1 \| 1.296 \| DISEASES 100861550 \| PDX1-AS1 \| 2.385 \| DISEASES 347148 \| QRFP \| 2.428 \| DISEASES 51128 \| SAR1B \| 1.983 \| DISEASES 6337 \| SCNN1A \| 1.735 \| DISEASES 6721 \| SREBF2 \| 1.742 \| DISEASES 51337 \| THEM6 \| 1.744 \| DISEASES 8764 \| TNFRSF14 \| 1.154 \| DISEASES 7436 \| VLDLR \| 2.56 \| DISEASES 23038 \| WDTC1 \| 1.379 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1042
Disease	hypercholesterolemia, familial
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:7) HP:0002155 \| Increased triglycerides HP:0003141 \| Hyperbetalipoproteinemia HP:0000951 \| dermatopathy HP:0002635 \| Atheromatosis HP:0003124 \| Elevated serum cholesterol HP:0001114 \| Fatty deposits on eyelids HP:0001084 \| Corneal annulus
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:24) HP:0001677 \| Coronary artery disease \| 6 HP:0002621 \| Atherosclerosis \| 6 HP:0001114 \| Fatty deposits on eyelids \| 4 HP:0010874 \| Tendon xanthomatosis \| 4 HP:0001658 \| Myocardial infarction \| 3 HP:0004950 \| Peripheral artery disease \| 2 HP:0001650 \| Valvular aortic stenosis \| 2 HP:0001297 \| Cerebral vascular events \| 2 HP:0004929 \| Coronary artherosclerosis \| 2 HP:0000991 \| Xanthomata \| 1 HP:0100546 \| Narrowing of carotid artery \| 1 HP:0000855 \| Insulin resistance \| 1 HP:0003077 \| Hyperlipidemia \| 1 HP:0005181 \| Premature coronary artery disease \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0001695 \| Cardiac arrest \| 1 HP:0004953 \| Abdominal aortic aneurysm \| 1 HP:0003198 \| Myopathic changes \| 1 HP:0001369 \| Arthritis \| 1 HP:0001031 \| Subcutaneous lipoma \| 1 HP:0004942 \| Aortic aneurysm \| 1 HP:0001370 \| Rheumatoid arthritis \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0001647 \| Bicuspid aortic valve \| 1

Disease ID	1042
Disease	hypercholesterolemia, familial
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:16) C0007222 \| cardiovascular disease \| 7 C0042373 \| vascular disease \| 7 C0302314 \| xanthomas \| 5 C0004153 \| atherosclerosis \| 5 C0010068 \| coronary artery disease \| 5 C0302314 \| xanthoma \| 4 C0242339 \| dyslipidemia \| 2 C0577631 \| carotid atherosclerosis \| 2 C0221253 \| tendinous xanthoma \| 2 C0010054 \| coronary atherosclerosis \| 2 C0018799 \| heart disease \| 1 C0010068 \| coronary heart disease \| 1 C0221253 \| tendon xanthoma \| 1 C0009814 \| stenosis \| 1 C0240344 \| migratory polyarthritis \| 1 C0003507 \| valvular aortic stenosis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:105)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1061170	19098018	3075	CFH	umls:C0020445	BeFree	Complement factor H Y402H decreases cardiovascular disease risk in patients with familial hypercholesterolaemia.	0.005005506	2009	CFH	1	196690107	C	T
rs112029328	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11102787	G	A,C,T
rs11591147	19797716	1917	EEF1A2	umls:C0020445	BeFree	We measured plasma PCSK9 concentrations in healthy men with a PCSK9 (proprotein convertase subtilisin/kexin type 9) loss-of-function variant (p.R46L), in statin-treated patients with a clinical diagnosis of familial hypercholesterolemia (FH) and carrying a PCSK9 gain-of-function mutation (p.D374Y), and in statin-treated patients with FH due to different genetic causes.	0.012757768	2009	PCSK9	1	55039974	G	T
rs11591147	19917273	255738	PCSK9	umls:C0020445	BeFree	Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes.	0.162633694	2010	PCSK9	1	55039974	G	T
rs11591147	19797716	255738	PCSK9	umls:C0020445	BeFree	Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9.	0.162633694	2009	PCSK9	1	55039974	G	T
rs11591147	25278291	255738	PCSK9	umls:C0020445	BeFree	PCSK9 R46L, lower LDL, and cardiovascular disease risk in familial hypercholesterolemia: a cross-sectional cohort study.	0.162633694	2015	PCSK9	1	55039974	G	T
rs11591147	19917273	3949	LDLR	umls:C0020445	BeFree	1130 unrelated subjects with molecularly defined FH were screened for mutation R46L in the PCSK9 gene and cell culture experiments were performed to study the effect of high concentrations of low density lipoprotein (LDL) on the binding of PCSK9 to the LDL receptor (LDLR).	0.462660056	2010	PCSK9	1	55039974	G	T
rs11591147	17550346	255738	PCSK9	umls:C0020445	BeFree	In the present study, we have determined the relative frequency of the R46L, I474V and E670G variants in the PCSK9 (protein convertase subtilisin/kexin type 9) gene and its association with plasma lipid levels and CHD (coronary heart disease) in healthy U.K. men and patients with clinically defined definite FH (familial hypercholesterolaemia).	0.162633694	2007	PCSK9	1	55039974	G	T
rs121908024	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11100252	C	T
rs121908025	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11102732	T	G
rs121908026	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11105436	C	T
rs121908027	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11105558	GGT	-
rs121908028	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11105587	C	G,T
rs121908029	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11105588	G	A,C,T
rs121908030	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11107484	G	A
rs121908031	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11120425	C	A
rs121908031	21920719	3949	LDLR	umls:C0020445	BeFree	A similar effect was detected in familial hypercholesterolaemia (FH) patients with the p.C681X mutation of LDL-receptor (LDLR).	0.462660056	2012	LDLR	19	11120425	C	A
rs121908032	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11129562	G	A
rs121908033	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11105429	G	A
rs121908034	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11105470	C	G,T
rs121908035	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11105599	C	A
rs121908036	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR;MIR6886	19	11113388	G	C
rs121908037	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11129654	G	A
rs121908038	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR;MIR6886	19	11113293	T	A
rs121908039	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11105457	G	A
rs121908040	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11106652	G	T
rs121908041	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11100292	G	C
rs121908042	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11105232	G	A,C
rs121908043	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR;MIR6886	19	11113307	C	A,T
rs121908044	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11105527	C	T
rs12713559	NA	338	APOB	umls:C0020445	CLINVAR	NA	0.325067179	NA	APOB	2	21006196	G	A
rs137852912	16224054	3949	LDLR	umls:C0020445	BeFree	Analysis of long-term (30 years) clinical history and response to treatment of 13 patients with the D374Y mutation of PCSK9 (PCSK9 patients) from 4 unrelated white British families compared with 36 white British patients with heterozygous familial hypercholesterolemia attributable to 3 specific mutations in the low-density lipoprotein (LDL) receptor gene (LDLR) known to cause severe phenotype.	0.462660056	2005	PCSK9	1	55057454	G	A,T
rs137852912	16224054	255738	PCSK9	umls:C0020445	BeFree	Analysis of long-term (30 years) clinical history and response to treatment of 13 patients with the D374Y mutation of PCSK9 (PCSK9 patients) from 4 unrelated white British families compared with 36 white British patients with heterozygous familial hypercholesterolemia attributable to 3 specific mutations in the low-density lipoprotein (LDL) receptor gene (LDLR) known to cause severe phenotype.	0.162633694	2005	PCSK9	1	55057454	G	A,T
rs137852912	19797716	255738	PCSK9	umls:C0020445	BeFree	Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9.	0.162633694	2009	PCSK9	1	55057454	G	A,T
rs137852912	19797716	1917	EEF1A2	umls:C0020445	BeFree	We measured plasma PCSK9 concentrations in healthy men with a PCSK9 (proprotein convertase subtilisin/kexin type 9) loss-of-function variant (p.R46L), in statin-treated patients with a clinical diagnosis of familial hypercholesterolemia (FH) and carrying a PCSK9 gain-of-function mutation (p.D374Y), and in statin-treated patients with FH due to different genetic causes.	0.012757768	2009	PCSK9	1	55057454	G	A,T
rs137853963	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11123264	G	A
rs137929307	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11116928	G	A
rs137943601	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR;MIR6886	19	11113313	G	A
rs138315511	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR;MIR6886	19	11111538	A	C,T
rs139043155	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11106668	T	A
rs139617694	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR;MIR6886	19	11113534	G	A
rs139624145	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR;MIR6886	19	11113620	G	A
rs145787161	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11120523	G	A
rs150673992	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11106627	C	T
rs1799883	15135251	3949	LDLR	umls:C0020445	BeFree	We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and -250G/A), FABP-2 (A54T), LPL (D9N, N291S, S447X) and ABCA1 (R219K) polymorphisms in 221 unrelated FH index cases and 349 FH relatives with defined LDL-R gene mutations.	0.462660056	2004	FABP2	4	119320747	T	G,C,A
rs1799883	15135251	19	ABCA1	umls:C0020445	BeFree	We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and -250G/A), FABP-2 (A54T), LPL (D9N, N291S, S447X) and ABCA1 (R219K) polymorphisms in 221 unrelated FH index cases and 349 FH relatives with defined LDL-R gene mutations.	0.123724241	2004	FABP2	4	119320747	T	G,C,A
rs1799883	15135251	2169	FABP2	umls:C0020445	BeFree	We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and -250G/A), FABP-2 (A54T), LPL (D9N, N291S, S447X) and ABCA1 (R219K) polymorphisms in 221 unrelated FH index cases and 349 FH relatives with defined LDL-R gene mutations.	0.000271442	2004	FABP2	4	119320747	T	G,C,A
rs1799983	12113283	4846	NOS3	umls:C0020445	BeFree	A method to detect the G894T polymorphism of the NOS3 gene. Clinical validation in familial hypercholesterolemia.	0.000271442	2002	NOS3	7	150999023	T	G
rs1801275	25110223	3566	IL4R	umls:C0020445	BeFree	rs1801275 Interleukin-4 receptor alpha polymorphism in familial hypercholesterolemia.	0.000271442	2014	IL4R	16	27363079	A	G
rs193922566	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11110766	G	A
rs193922567	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR;MIR6886	19	11113451	T	A
rs193922568	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR;MIR6886	19	11113557	G	A,T
rs193922569	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11120224	C	T
rs193922570	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11120495	G	C,T
rs193922571	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11105268	G	A
rs200238879	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11105602	T	C
rs2230806	15135251	2169	FABP2	umls:C0020445	BeFree	We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and -250G/A), FABP-2 (A54T), LPL (D9N, N291S, S447X) and ABCA1 (R219K) polymorphisms in 221 unrelated FH index cases and 349 FH relatives with defined LDL-R gene mutations.	0.000271442	2004	ABCA1	9	104858586	C	T
rs2230806	15135251	3949	LDLR	umls:C0020445	BeFree	We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and -250G/A), FABP-2 (A54T), LPL (D9N, N291S, S447X) and ABCA1 (R219K) polymorphisms in 221 unrelated FH index cases and 349 FH relatives with defined LDL-R gene mutations.	0.462660056	2004	ABCA1	9	104858586	C	T
rs2230806	15135251	19	ABCA1	umls:C0020445	BeFree	We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and -250G/A), FABP-2 (A54T), LPL (D9N, N291S, S447X) and ABCA1 (R219K) polymorphisms in 221 unrelated FH index cases and 349 FH relatives with defined LDL-R gene mutations.	0.123724241	2004	ABCA1	9	104858586	C	T
rs267607213	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11100286	G	A
rs28941776	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11116153	G	A
rs28942078	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR;MIR6886	19	11113376	G	A
rs28942079	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR;MIR6886	19	11113382	G	A,C
rs28942080	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR;MIR6886	19	11113743	G	A,C
rs28942081	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11116144	G	A
rs28942082	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11116201	G	T
rs28942083	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11120382	G	A
rs28942084	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11120436	C	T
rs28942085	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11129606	A	G
rs368657165	7981713	3949	LDLR	umls:C0020445	BeFree	Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia.	0.462660056	1994	LDLR	19	11107436	G	A
rs386599232	17550346	255738	PCSK9	umls:C0020445	BeFree	In the present study, we have determined the relative frequency of the R46L, I474V and E670G variants in the PCSK9 (protein convertase subtilisin/kexin type 9) gene and its association with plasma lipid levels and CHD (coronary heart disease) in healthy U.K. men and patients with clinically defined definite FH (familial hypercholesterolaemia).	0.162633694	2007	NA	NA	NA	NA	NA
rs387906301	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11100292	GCGATG	-
rs387906302	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11129573	-	AGAA
rs387906303	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11105576	G	A
rs387906304	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11107499	CCCATCA	-
rs387906305	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11105586	AC	-
rs387906306	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11105587	-	TGCAAGGACAAATCTGAC
rs387906307	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11089411	T	-
rs4986790	14764071	7099	TLR4	umls:C0020445	BeFree	Toll-like receptor-4 Asp299Gly polymorphism does not influence progression of atherosclerosis in patients with familial hypercholesterolaemia.	0.000271442	2004	TLR4	9	117713024	A	G
rs505151	17550346	255738	PCSK9	umls:C0020445	BeFree	In the present study, we have determined the relative frequency of the R46L, I474V and E670G variants in the PCSK9 (protein convertase subtilisin/kexin type 9) gene and its association with plasma lipid levels and CHD (coronary heart disease) in healthy U.K. men and patients with clinically defined definite FH (familial hypercholesterolaemia).	0.162633694	2007	PCSK9	1	55063514	G	A
rs562556	17550346	255738	PCSK9	umls:C0020445	BeFree	In the present study, we have determined the relative frequency of the R46L, I474V and E670G variants in the PCSK9 (protein convertase subtilisin/kexin type 9) gene and its association with plasma lipid levels and CHD (coronary heart disease) in healthy U.K. men and patients with clinically defined definite FH (familial hypercholesterolaemia).	0.162633694	2007	PCSK9	1	55058564	G	A
rs5742904	24234650	255738	PCSK9	umls:C0020445	BeFree	Although FH is usually caused by mutations in LDLR, mutations in APOB and PCSK9 also cause FH but only a few mutations have been reported, APOB p.R3527Q being the most common.	0.162633694	2014	APOB	2	21006288	C	T
rs5742904	22859806	338	APOB	umls:C0020445	BeFree	Sixteen patients (40%) were found to have mutations in their LDLR gene, whereas two other patients (5%) were identified as heterozygous for the APOB variant commonly associated with FH (c.10580G>A; p.R3527Q).	0.325067179	2012	APOB	2	21006288	C	T
rs5742904	NA	338	APOB	umls:C0020445	CLINVAR	NA	0.325067179	NA	APOB	2	21006288	C	T
rs5742904	21310417	338	APOB	umls:C0020445	BeFree	The FH chip contains the APOB mutation p.Arg3527Gln, all 89 LDLR point mutations and small DNA rearrangements detected in Czech FH patients, and 78 mutations frequent in other European and Asian FH populations.	0.325067179	2011	APOB	2	21006288	C	T
rs5742904	22859806	3949	LDLR	umls:C0020445	BeFree	Sixteen patients (40%) were found to have mutations in their LDLR gene, whereas two other patients (5%) were identified as heterozygous for the APOB variant commonly associated with FH (c.10580G>A; p.R3527Q).	0.462660056	2012	APOB	2	21006288	C	T
rs587776886	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11120608	C	G
rs6180	NA	2690	GHR	umls:C0020445	CLINVAR	NA	0.120271442	NA	GHR	5	42719137	A	C
rs662	15642273	5444	PON1	umls:C0020445	BeFree	In 187 patients with familial hypercholesterolemia, we studied the seven most common single nucleotide polymorphisms (SNPs) in both the coding and promoter sequences of PON1 (L55M, Q192R, T-107C, C-126G, G-162A, G-824A, and C-907G) in terms of PON1 activity and intima media thickness (IMT) of the carotid arterial wall, a validated surrogate marker for CVD.	0.124624443	2005	PON1	7	95308134	T	C
rs662	16926679	5445	PON2	umls:C0020445	BeFree	We have studied the contribution of PON-1 and PON-2 single nucleotide polymorphisms (SNP; L55M, Q192R and T-107C, S311C) to the intima-media thickness of the common carotid artery in a population of children with classic familial hypercholesterolaemia.	0.123181358	2006	PON1	7	95308134	T	C
rs705380	15642273	5444	PON1	umls:C0020445	BeFree	In 187 patients with familial hypercholesterolemia, we studied the seven most common single nucleotide polymorphisms (SNPs) in both the coding and promoter sequences of PON1 (L55M, Q192R, T-107C, C-126G, G-162A, G-824A, and C-907G) in terms of PON1 activity and intima media thickness (IMT) of the carotid arterial wall, a validated surrogate marker for CVD.	0.124624443	2005	PON1	7	95324601	G	C
rs705381	15642273	5444	PON1	umls:C0020445	BeFree	In 187 patients with familial hypercholesterolemia, we studied the seven most common single nucleotide polymorphisms (SNPs) in both the coding and promoter sequences of PON1 (L55M, Q192R, T-107C, C-126G, G-162A, G-824A, and C-907G) in terms of PON1 activity and intima media thickness (IMT) of the carotid arterial wall, a validated surrogate marker for CVD.	0.124624443	2005	PON1	7	95324637	T	C
rs730880130	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR;MIR6886	19	11113644	T	C
rs730880131	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR;MIR6886	19	11111640	G	T
rs749220643	NA	3949	LDLR	umls:C0020445	CLINVAR	NA	0.462660056	NA	LDLR	19	11106681	G	A
rs7493	16776623	5445	PON2	umls:C0020445	BeFree	We investigated paraoxonase 2 (PON 2) Ser311Cys, lipoprotein lipase (LPL) Asn291Ser, plasminogen activator inhibitor-1 (PAI-1) T11053G, beta-fibrinogen (FGB) -455 G>A and nitric oxide synthase gene (NOS) -922 A>G polymorphisms in 84 patients with FH.	0.123181358	2006	PON2	7	95405463	G	C
rs7493	16776623	4023	LPL	umls:C0020445	BeFree	We investigated paraoxonase 2 (PON 2) Ser311Cys, lipoprotein lipase (LPL) Asn291Ser, plasminogen activator inhibitor-1 (PAI-1) T11053G, beta-fibrinogen (FGB) -455 G>A and nitric oxide synthase gene (NOS) -922 A>G polymorphisms in 84 patients with FH.	0.127448483	2006	PON2	7	95405463	G	C
rs7493	16776623	5054	SERPINE1	umls:C0020445	BeFree	We investigated paraoxonase 2 (PON 2) Ser311Cys, lipoprotein lipase (LPL) Asn291Ser, plasminogen activator inhibitor-1 (PAI-1) T11053G, beta-fibrinogen (FGB) -455 G>A and nitric oxide synthase gene (NOS) -922 A>G polymorphisms in 84 patients with FH.	0.001085767	2006	PON2	7	95405463	G	C
rs7493	16926679	5445	PON2	umls:C0020445	BeFree	We have studied the contribution of PON-1 and PON-2 single nucleotide polymorphisms (SNP; L55M, Q192R and T-107C, S311C) to the intima-media thickness of the common carotid artery in a population of children with classic familial hypercholesterolaemia.	0.123181358	2006	PON2	7	95405463	G	C
rs751141	NA	2053	EPHX2	umls:C0020445	CLINVAR	NA	0.12	NA	EPHX2	8	27516348	G	A
rs793888521	NA	255738	PCSK9	umls:C0020445	CLINVAR	NA	0.162633694	NA	PCSK9	1	55052364	G	A
rs793888522	NA	26228	STAP1	umls:C0020445	CLINVAR	NA	0.12	NA	STAP1	4	67571102	A	G
rs854560	16926679	5445	PON2	umls:C0020445	BeFree	We have studied the contribution of PON-1 and PON-2 single nucleotide polymorphisms (SNP; L55M, Q192R and T-107C, S311C) to the intima-media thickness of the common carotid artery in a population of children with classic familial hypercholesterolaemia.	0.123181358	2006	PON1	7	95316772	A	C,G,N,T
rs854560	15642273	5444	PON1	umls:C0020445	BeFree	In 187 patients with familial hypercholesterolemia, we studied the seven most common single nucleotide polymorphisms (SNPs) in both the coding and promoter sequences of PON1 (L55M, Q192R, T-107C, C-126G, G-162A, G-824A, and C-907G) in terms of PON1 activity and intima media thickness (IMT) of the carotid arterial wall, a validated surrogate marker for CVD.	0.124624443	2005	PON1	7	95316772	A	C,G,N,T
rs9370867	25171759	29116	MYLIP	umls:C0020445	BeFree	The MYLIP p.N342S polymorphism is associated with response to lipid-lowering therapy in Brazilian patients with familial hypercholesterolemia.	0.000271442	2015	MYLIP	6	16145094	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000951	Abnormality of the skin	MP:0013620	increased internal diameter of femur	increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur

Mapped by homologous gene(Total Items:6)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0003141	Hyperbetalipoproteinemia	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot
HP:0001084	Corneal arcus	MP:0011108	embryonic lethality during organogenesis, incomplete penetrance	the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)
HP:0001114	Xanthelasma	MP:0011231	abnormal vitamin E level	any anomaly in the concentration of vitamin E, tocopherol, including a series of eight structurally similar compounds; alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant
HP:0003124	Hypercholesterolemia	MP:0014169	decreased brown adipose tissue mass	decreased physical bulk or volume of brown adipose tissue
HP:0002155	Hypertriglyceridemia	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0000951	Abnormality of the skin	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals

Disease ID	1042
Disease	hypercholesterolemia, familial
Case	(Waiting for update.)