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GENE - TERM ANNOTATION REPORT

RGD ID: 1320564
Species: Homo sapiens
RGD Object: Gene
Symbol: CRB1
Name: crumbs cell polarity complex component 1
Acc ID: DOID:0111541
Term: pigmented paravenous chorioretinal atrophy
Definition: An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15623792 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/3778279 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CRB1 IAGP 8552694RGDDNA:missense mutation:cds:p.V162M (human) 
CRB1 IAGP 7240710OMIM  
CRB1 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
CRB1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:28492532
CRB1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:25741868 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:25741868 PMID:27113771 PMID:27208204 PMID:28492532 PMID:28559085 PMID:30576320
CRB1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:25741868
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:15459956 PMID:25741868 PMID:26914788 PMID:27096895 PMID:28492532 PMID:29391521
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:15459956 PMID:16123401 PMID:18055816 PMID:25741868 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:17576681 PMID:28492532 PMID:9536098
CRB1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophy 
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:19339744 PMID:25741868 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:21602930 PMID:25741868 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:25741868 PMID:28492532 PMID:32037395 PMID:36909829
CRB1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:10508521 PMID:22065545 PMID:23379534 PMID:25412400 PMID:25741868 PMID:26957898 PMID:28041643 PMID:28492532 PMID:29391521
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:21602930 PMID:24715753 PMID:25356976 PMID:25377065 PMID:25741868 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:17576681 PMID:20683928 PMID:24512366 PMID:25741868 PMID:28492532 PMID:9536098
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:15459956 PMID:20956273 PMID:22065545 PMID:25741868 PMID:26312378 PMID:28492532 PMID:28819299 PMID:31736247
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:15024725 PMID:23379534 PMID:24715753 PMID:25741868 PMID:28492532 PMID:29068479
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:20591486 PMID:22164218 PMID:25741868 PMID:28492532 PMID:30718709
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:25741868 PMID:28041643 PMID:28492532 PMID:32581362
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:15024725 PMID:20591486 PMID:20956273 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28559085
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:10508521 PMID:21602930 PMID:22065545 PMID:23379534 PMID:24938718 PMID:25356976 PMID:25412400 PMID:25741868 PMID:26957898 PMID:28041643 PMID:28492532 PMID:29391521
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:10508521 PMID:18055816 PMID:19401883 PMID:20956273 PMID:23379534 PMID:24512366 PMID:25741868 PMID:27113771 PMID:27353947 PMID:28005958 PMID:28492532 PMID:28714225 PMID:28819299 PMID:32865313
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:10508521 PMID:22065545 PMID:23379534 PMID:25323024 PMID:25412400 PMID:25741868 PMID:26957898 PMID:28041643 PMID:28492532 PMID:29391521 PMID:31456290 PMID:31896775 PMID:33342761 PMID:33546218
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:22219627 PMID:28492532 PMID:28559085
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:25097241 PMID:25741868 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:25741868 PMID:28492532 PMID:31630094 PMID:33342761
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:25741868 PMID:28492532 PMID:36909829
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:10508521 PMID:16199547 PMID:22065545 PMID:23379534 PMID:25412400 PMID:25741868 PMID:26957898 PMID:28041643 PMID:28492532 PMID:29391521
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:16936081 PMID:20079931 PMID:25741868 PMID:28492532 PMID:35119454
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:15024725 PMID:25741868 PMID:26667666 PMID:28492532 PMID:31725702 PMID:33576794
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:23591405 PMID:25741868 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:17964524 PMID:25741868 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:23379534 PMID:25741868 PMID:28492532 PMID:28559085
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:24512366 PMID:25741868 PMID:28492532 PMID:33576794 PMID:34758253 PMID:36099972 PMID:36460718
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:24535598 PMID:24811962 PMID:25741868 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:23449718 PMID:25356976 PMID:25741868 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:20956273 PMID:22065545 PMID:25741868
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:10508521 PMID:22065545 PMID:23379534 PMID:23591405 PMID:25412400 PMID:25741868 PMID:26957898 PMID:28041643 PMID:28492532 PMID:29391521
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:10508521 PMID:16199547 PMID:22065545 PMID:23379534 PMID:25412400 PMID:25741868 PMID:26957898 PMID:28041643 PMID:28492532 PMID:29391521 PMID:30902645
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:10508521 PMID:21484995 PMID:22065545 PMID:23379534 PMID:25412400 PMID:25741868 PMID:26957898 PMID:28041643 PMID:28492532 PMID:29391521
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:21757580 PMID:23105016 PMID:24715753 PMID:25741868 PMID:28492532 PMID:29200130 PMID:34906470
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:25741868 PMID:28492532 PMID:28559085 PMID:28819299 PMID:28912962 PMID:33576794
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:12700176 PMID:25741868 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:10508521 PMID:22065545 PMID:23362850 PMID:23379534 PMID:25412400 PMID:25741868 PMID:26957898 PMID:28041643 PMID:28492532 PMID:29391521
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:25741868 PMID:28492532 PMID:30029497 PMID:33090715
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:23661368 PMID:24535598 PMID:25377065 PMID:25741868 PMID:27806333 PMID:28492532 PMID:29641573 PMID:30029497 PMID:33342761
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:11389483 PMID:25741868 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:20956273 PMID:23379534 PMID:24811962 PMID:25741868 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:25741868 PMID:28492532 PMID:32531858
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:25474345 PMID:25741868 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:25741868 PMID:28492532 PMID:34884448
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:10508521 PMID:1427914 PMID:24265693 PMID:25741868 PMID:27157150 PMID:27380427 PMID:28492532 PMID:30543658
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 PMID:25741868 PMID:26047050 PMID:28129017 PMID:28341475 PMID:28492532 PMID:29391521 PMID:30718709 PMID:33546218 PMID:34906470
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:10508521 PMID:15024725 PMID:20956273 PMID:22968130 PMID:23105016 PMID:23449718 PMID:24715753 PMID:25741868 PMID:28492532 PMID:30718709 PMID:34906470
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:11389483 PMID:25741868
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:10508521 PMID:11389483 PMID:20956273 PMID:22065545 PMID:23379534 PMID:24265693 PMID:25412400 PMID:25741868 PMID:26957898 PMID:28041643 PMID:28492532 PMID:29391521 PMID:30718709
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:14971589 PMID:15623792 PMID:17964524 PMID:22065545 PMID:24033266 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:15024725 PMID:16543197 PMID:17724218 PMID:17964524 PMID:19140180 PMID:22065545 PMID:23449718 PMID:25133751 PMID:25741868 PMID:26147992 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:10508521 PMID:11231775 PMID:18055816 PMID:19401883 PMID:20301475 PMID:20956273 PMID:23379534 PMID:24512366 PMID:25741868 PMID:27113771 PMID:28041643 PMID:28492532 PMID:30718709 PMID:36909829
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:11231775 PMID:23449718 PMID:25356976 PMID:25741868 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:11231775 PMID:21757580 PMID:23847139 PMID:25741868 PMID:28492532 PMID:35318874
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:12843338 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:12843338 PMID:25741868 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:12843338 PMID:15459956 PMID:25741868 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:10508521 PMID:15024725 PMID:20683928 PMID:20956273 PMID:22065545 PMID:23379534 PMID:25412400 PMID:25741868 PMID:26957898 PMID:28041643 PMID:28492532 PMID:29391521 PMID:34906470
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:12843338 PMID:23379534 PMID:25741868 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:15024725 PMID:20956273 PMID:25741868 PMID:28492532 PMID:28819299 PMID:34884448
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:10508521 PMID:11231775 PMID:22065545 PMID:23379534 PMID:25412400 PMID:25741868 PMID:26957898 PMID:28041643 PMID:28492532 PMID:28800606 PMID:29178642 PMID:29391521 PMID:30718709 PMID:34906470
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:11231775 PMID:12843338 PMID:15459956 PMID:16272259 PMID:18055816 PMID:20079931 PMID:25741868 PMID:28492532 PMID:30718709
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:15459956 PMID:17724218 PMID:21602930 PMID:25741868 PMID:28492532
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:10508521 PMID:18682808 PMID:22065545 PMID:23379534 PMID:23462753 PMID:25412400 PMID:25741868 PMID:26957898 PMID:28041643 PMID:28492532 PMID:28512305 PMID:29391521
CRB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophyPMID:10508521 PMID:1389483 PMID:23379534 PMID:23592920 PMID:24512366 PMID:25741868 PMID:28341475 PMID:28492532 PMID:28819299
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