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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:familial hypercholesterolemia
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Accession:DOID:13810 term browser browse the term
Definition:A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. (DO)
Synonyms:exact_synonym: FH;   FHC;   FHCL1;   Fredrickson type IIa hyperlipoproteinemia;   Fredrickson type IIa lipidaemia;   HYPERCHOLESTEROLEMIA, FAMILIAL, 1;   HYPERCHOLESTEROLEMIC XANTHOMATOSES, FAMILIAL;   HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL;   familial hyperbetalipoproteinaemia;   familial hypercholesteremia;   familial hypercholesterolemias;   hyperbetalipoproteinemia;   type II hyperlipidemia
 narrow_synonym: LDL RECEPTOR DISORDER
 primary_id: OMIM:143890
 alt_id: OMIA:000499
 xref: GARD:10416;   ICD10CM:E78.01;   NCI:C34704;   OMIM:PS143890;   ORDO:406
For additional species annotation, visit the Alliance of Genome Resources.



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familial hypercholesterolemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar PMID:19743957 PMID:20800056 PMID:24497850 PMID:25215231 PMID:25741868 More... NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155
JBrowse link
G APOA2 apolipoprotein A2 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar
OMIM
PMID:12522687 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,292...161,223,631
JBrowse link
G APOB apolipoprotein B IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Familial hypercholesterolemias
DNA:deletion:promoter, exon:
ClinVar
RGD
PMID:221546 PMID:1360085 PMID:1424233 PMID:1454832 PMID:1466657 More... RGD:11527221 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G APOB3'MAR APOB 3' scaffold/matrix attachment region IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar PMID:19602640 PMID:22923420 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:21,000,401...21,001,841 JBrowse link
G APOE apolipoprotein E ISO RGD PMID:29166645 RGD:150520219 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G C19orf38 chromosome 19 open reading frame 38 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,836,685...10,869,790
Ensembl chr19:10,836,575...10,869,790
JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,871,553...10,923,075
Ensembl chr19:10,871,553...10,923,075
JBrowse link
G DNM2 dynamin 2 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488
JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:14756670 PMID:17094996 PMID:19538517 PMID:20045108 PMID:22698793 More... NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524
JBrowse link
G EPHX2 epoxide hydrolase 2 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 1 OMIM
ClinVar
PMID:10862610 PMID:12522687 PMID:14673705 PMID:14732757 PMID:15845398 More... NCBI chr 8:27,491,143...27,545,564
Ensembl chr 8:27,490,781...27,545,564
JBrowse link
G GHR growth hormone receptor IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
OMIM
ClinVar
PMID:7565946 PMID:8504296 PMID:12910492 PMID:17462934 PMID:25741868 More... NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
JBrowse link
G GK glycerol kinase ISO RGD PMID:10642898 RGD:13702898 NCBI chr  X:30,653,423...30,731,462
Ensembl chr  X:30,653,359...30,731,462
JBrowse link
G LDLR low density lipoprotein receptor IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL
ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar
OMIM
PMID:200368 PMID:1057090 PMID:1073562 PMID:1139254 PMID:1301940 More... NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,462...11,133,820
JBrowse link
G LDLR-AS1 LDLR antisense RNA 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar PMID:1301956 PMID:1319734 PMID:1348044 PMID:1727071 PMID:2318961 More... NCBI chr19:11,089,068...11,089,659 JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar PMID:4351242 PMID:11326085 PMID:12016260 PMID:12464675 PMID:12788851 More... NCBI chr 1:25,543,606...25,590,400
Ensembl chr 1:25,543,606...25,568,886
JBrowse link
G LOC106560211 APOB 5' regulatory region IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar PMID:22095935 PMID:24033266 PMID:24498611 PMID:24503134 PMID:25741868 More... NCBI chr 2:21,041,088...21,049,341 JBrowse link
G MIR199A1 microRNA 199a-1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,817,426...10,817,496
Ensembl chr19:10,817,426...10,817,496
JBrowse link
G MIR6886 microRNA 6886 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar PMID:1301956 PMID:2777800 PMID:7616128 PMID:8872473 PMID:9254862 More... NCBI chr19:11,113,474...11,113,534
Ensembl chr19:11,113,474...11,113,534
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar PMID:10357843 PMID:10764678 PMID:11668641 PMID:11941481 PMID:12175777 More... NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,447...55,064,852
JBrowse link
G PON2 paraoxonase 2 IAGP DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329
JBrowse link
G PPP1R17 protein phosphatase 1 regulatory subunit 17 IAGP OMIM NCBI chr 7:31,687,215...31,708,455
Ensembl chr 7:31,687,215...31,708,455
JBrowse link
G SERPINE1 serpin family E member 1 IEP protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:1998642 PMID:25741868 PMID:28492532 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
JBrowse link
G STAP1 signal transducing adaptor family member 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:26036859 NCBI chr 4:67,558,727...67,607,337
Ensembl chr 4:67,558,727...67,607,337
JBrowse link
G TIMM29 translocase of inner mitochondrial membrane 29 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,928,811...10,930,254
Ensembl chr19:10,928,811...10,933,535
JBrowse link
G TMED1 transmembrane p24 trafficking protein 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,832,067...10,836,212
Ensembl chr19:10,832,067...10,836,318
JBrowse link
G YIPF2 Yip1 domain family member 2 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,922,193...10,928,639
Ensembl chr19:10,922,185...10,928,681
JBrowse link
autosomal recessive hypercholesterolemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AUNIP aurora kinase A and ninein interacting protein IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,831,906...25,859,457
Ensembl chr 1:25,831,913...25,859,458
JBrowse link
G CATSPER4 cation channel sperm associated 4 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,190,602...26,202,964
Ensembl chr 1:26,190,561...26,202,968
JBrowse link
G CD52 CD52 molecule IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,317,958...26,320,523
Ensembl chr 1:26,317,958...26,320,523
JBrowse link
G CEP85 centrosomal protein 85 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,234,200...26,278,808
Ensembl chr 1:26,234,200...26,278,808
JBrowse link
G CNKSR1 connector enhancer of kinase suppressor of Ras 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,177,491...26,189,884
Ensembl chr 1:26,177,484...26,189,884
JBrowse link
G CRYBG2 crystallin beta-gamma domain containing 2 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,321,865...26,354,130
Ensembl chr 1:26,321,698...26,360,080
JBrowse link
G DHDDS dehydrodolichyl diphosphate synthase subunit IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306
JBrowse link
G EXTL1 exostosin like glycosyltransferase 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,021,775...26,036,464
Ensembl chr 1:26,019,884...26,036,464
JBrowse link
G FAM110D family with sequence similarity 110 member D IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,159,079...26,163,962
Ensembl chr 1:26,159,079...26,163,962
JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 IAGP ClinVar Annotator: match by term: Hypercholesterolemia, autosomal recessive
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar Annotator: match by term: Familial hypercholesterolemia 4
ClinVar
OMIM
PMID:4351242 PMID:7628519 PMID:9536098 PMID:11326085 PMID:11897284 More... NCBI chr 1:25,543,606...25,590,400
Ensembl chr 1:25,543,606...25,568,886
JBrowse link
G LIN28A lin-28 homolog A IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,410,817...26,429,728
Ensembl chr 1:26,410,817...26,429,728
JBrowse link
G MAN1C1 mannosidase alpha class 1C member 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,616,791...25,784,450
Ensembl chr 1:25,616,791...25,786,206
JBrowse link
G MTFR1L mitochondrial fission regulator 1 like IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,819,954...25,832,938
Ensembl chr 1:25,818,640...25,832,942
JBrowse link
G PAFAH2 platelet activating factor acetylhydrolase 2 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,959,767...25,998,063
Ensembl chr 1:25,959,767...25,998,117
JBrowse link
G PAQR7 progestin and adipoQ receptor family member 7 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,861,484...25,875,708
Ensembl chr 1:25,861,484...25,875,708
JBrowse link
G PDIK1L PDLIM1 interacting kinase 1 like IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,111,162...26,125,555
Ensembl chr 1:26,111,165...26,125,555
JBrowse link
G SELENON selenoprotein N IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
JBrowse link
G SH3BGRL3 SH3 domain binding glutamate rich protein like 3 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,280,086...26,281,522
Ensembl chr 1:26,280,086...26,281,522
JBrowse link
G SLC30A2 solute carrier family 30 member 2 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,037,252...26,046,118
Ensembl chr 1:26,037,252...26,046,118
JBrowse link
G STMN1 stathmin 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,884,179...25,906,880
Ensembl chr 1:25,884,181...25,906,991
JBrowse link
G TRIM63 tripartite motif containing 63 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,051,301...26,067,630
Ensembl chr 1:26,051,301...26,068,436
JBrowse link
G UBXN11 UBX domain protein 11 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,282,282...26,318,355
Ensembl chr 1:26,281,328...26,318,363
JBrowse link
G ZNF593 zinc finger protein 593 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,169,908...26,170,873
Ensembl chr 1:26,169,908...26,170,873
JBrowse link
G ZNF683 zinc finger protein 683 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,361,634...26,374,518
Ensembl chr 1:26,361,634...26,374,522
JBrowse link
Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B IAGP ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:1360085 PMID:1466657 PMID:1493642 PMID:1600334 PMID:1793440 More... NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
Hypercholesterolemia, Autosomal Dominant, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B IAGP ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:25741868 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G BSND barttin CLCNK type accessory subunit beta IAGP ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:28492532 NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 IAGP ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3
ClinVar Annotator: match by term: Familial hypercholesterolemia 3
ClinVar
OMIM
PMID:9536098 PMID:10357843 PMID:10764678 PMID:11668641 PMID:11941481 More... NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,447...55,064,852
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22115
    Nutritional and Metabolic Diseases 7407
      disease of metabolism 7407
        lipid metabolism disorder 1155
          familial hyperlipidemia 269
            Hypercholesterolemia 138
              familial hypercholesterolemia 51
                Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B 1
                Hypercholesterolemia, Autosomal Dominant, 3 3
                autosomal recessive hypercholesterolemia 24
Path 2
Term Annotations click to browse term
  disease 22115
    Developmental Disease 16640
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 14376
        genetic disease 13728
          inherited metabolic disorder 4956
            lipid metabolism disorder 1155
              Dyslipidemias 299
                familial hyperlipidemia 269
                  Hyperlipoproteinemias 76
                    Hyperlipoproteinemia Type II 63
                      familial hypercholesterolemia 51
                        Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B 1
                        Hypercholesterolemia, Autosomal Dominant, 3 3
                        autosomal recessive hypercholesterolemia 24
paths to the root