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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking APOB and Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with APOB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B  (DOID:9000699)
  • 0 papers in RGD have been used to annotate APOB
  • Curation Notes: ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE | ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B
  • Original References(s): PMID:10208479 PMID:10388479 PMID:10529757 PMID:10735632 PMID:10952765 PMID:11031227 PMID:11115503 PMID:11137107 PMID:11238294 PMID:11494965 PMID:11781700 PMID:11810272 PMID:11833852 PMID:12124991 PMID:12872264 PMID:1360085 PMID:1431583 PMID:14508510 PMID:1466657 PMID:14732481 PMID:1493642 PMID:15135245 PMID:15308601 PMID:15514099 PMID:15797858 PMID:15805152 PMID:1600334 PMID:16250003 PMID:17046772 PMID:17087781 PMID:17142622 PMID:17160438 PMID:174884 PMID:17539906 PMID:17570373 PMID:17588943 PMID:17595251 PMID:1770316 PMID:17765246 PMID:1793440 PMID:17964958 PMID:17968143 PMID:18022922 PMID:18028451 PMID:18096825 PMID:18160469 PMID:18222178 PMID:18279815 PMID:18325181 PMID:18355452 PMID:18492086 PMID:18700895 PMID:18710658 PMID:19602640 PMID:1977310 PMID:20032471 PMID:20145306 PMID:20167924 PMID:20236128 PMID:20506408 PMID:20538126 PMID:20592474 PMID:20657596 PMID:20736250 PMID:20809525 PMID:20828696 PMID:20981092 PMID:21033204 PMID:21059979 PMID:21303902 PMID:21310417 PMID:21376320 PMID:21382890 PMID:21408211 PMID:21513517 PMID:21520333 PMID:21657943 PMID:21722902 PMID:21862702 PMID:21868016 PMID:21919778 PMID:22095935 PMID:22244043 PMID:22256951 PMID:22294733 PMID:22353362 PMID:22408029 PMID:22534770 PMID:22698793 PMID:2280177 PMID:22863191 PMID:22883975 PMID:22923420 PMID:23054246 PMID:23064986 PMID:23130880 PMID:23375686 PMID:23593297 PMID:23680767 PMID:23685560 PMID:2375782 PMID:23775634 PMID:23833242 PMID:23936638 PMID:24033266 PMID:24106285 PMID:24234650 PMID:24404629 PMID:24498611 PMID:24503134 PMID:24507774 PMID:24507775 PMID:24607922 PMID:24627126 PMID:24784157 PMID:24956927 PMID:24987033 PMID:25430706 PMID:25461735 PMID:2563166 PMID:25647241 PMID:25712136 PMID:25741868 PMID:25741869 PMID:26020417 PMID:26036859 PMID:26064709 PMID:26332594 PMID:26415676 PMID:26467025 PMID:26516186 PMID:26546829 PMID:26612772 PMID:26636822 PMID:26643808 PMID:26666465 PMID:26688439 PMID:26690388 PMID:26802169 PMID:26892515 PMID:27153395 PMID:27206935 PMID:27206948 PMID:27365461 PMID:27497240 PMID:27516387 PMID:27578127 PMID:27654142 PMID:27765764 PMID:27783906 PMID:27784735 PMID:27824480 PMID:27831900 PMID:27872105 PMID:27884173 PMID:27919364 PMID:27932355 PMID:28008009 PMID:28104544 PMID:28405938 PMID:28428224 PMID:28431867 PMID:28475941 PMID:28492532 PMID:28733173 PMID:28895539 PMID:28953935 PMID:28958330 PMID:28965616 PMID:29036232 PMID:29083407 PMID:29192238 PMID:29233637 PMID:29261184 PMID:29284604 PMID:29290422 PMID:29353225 PMID:29386597 PMID:29459468 PMID:29540175 PMID:29555771 PMID:29572815 PMID:29598884 PMID:29870584 PMID:30030251 PMID:30056620 PMID:30076208 PMID:30122538 PMID:30206226 PMID:30217213 PMID:30270084 PMID:30270359 PMID:30291343 PMID:30333156 PMID:30337457 PMID:30348779 PMID:30420299 PMID:30526649 PMID:30586733 PMID:30592178 PMID:30681615 PMID:30694319 PMID:30710474 PMID:30782561 PMID:30842500 PMID:30971288 PMID:31028937 PMID:31106297 PMID:31135820 PMID:31150472 PMID:31153816 PMID:31345425 PMID:31371270 PMID:31447099 PMID:31570899 PMID:31589614 PMID:31624253 PMID:31893465 PMID:31980526 PMID:32009526 PMID:32044282 PMID:32101375 PMID:32115487 PMID:32355288 PMID:32591292 PMID:32625235 PMID:32702746 PMID:32706999 PMID:32719484 PMID:32770674 PMID:33006316 PMID:33020668 PMID:33059327 PMID:33111339 PMID:33207932 PMID:33269076 PMID:33303402 PMID:33418990 PMID:33454241 PMID:33489595 PMID:33508743 PMID:33740630 PMID:33875564 PMID:33890362 PMID:34037665 PMID:34297352 PMID:34426522 PMID:34428338 PMID:34445196 PMID:34456049 PMID:34573395 PMID:34650182 PMID:3477815 PMID:34875256 PMID:35047021 PMID:35052492 PMID:35276540 PMID:35300601 PMID:35339733 PMID:35741760 PMID:35761384 PMID:35910211 PMID:35913489 PMID:35979295 PMID:36071769 PMID:36105085 PMID:36190978 PMID:36196022 PMID:36413997 PMID:36474027 PMID:36499307 PMID:36555767 PMID:36648309 PMID:36752612 PMID:36973604 PMID:37108800 PMID:37593691 PMID:37675602 PMID:3771801 PMID:37937776 PMID:7627691 PMID:7670940 PMID:7882518 PMID:7883971 PMID:8141833 PMID:8254047 PMID:8318509


    • An association has been curated linking APOB and Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with APOB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B  (DOID:9000699)
  • 0 papers in RGD have been used to annotate APOB
  • Curation Notes: ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE | ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B
  • Original References(s): PMID:8318993 PMID:8371062 PMID:8478017 PMID:8723684 PMID:8831935 PMID:8889592 PMID:8931699 PMID:8960785 PMID:9081691 PMID:9104431 PMID:9105560 PMID:9191540 PMID:9254062 PMID:9259199 PMID:9339363 PMID:9486979 PMID:9490296 PMID:9568749 PMID:9603795 PMID:9654205 PMID:9702952 PMID:9925662


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