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GENE - TERM ANNOTATION REPORT
4 Annotations Found.
An association has been curated linking
Crb1
and
pigmented paravenous chorioretinal atrophy
in Rattus norvegicus.
The association was
inferred from sequence orthology
(ISO)
The annotation was made from
McKay GJ, etal., Invest Ophthalmol Vis Sci. 2005 Jan;46(1):322-8.
The annotation has been inferred from sequence orthology with
CRB1 (Homo sapiens)
[(IAGP) inferred by association of genotype and phenotype]
3
additional annotations were made from
McKay GJ, etal., Invest Ophthalmol Vis Sci. 2005 Jan;46(1):322-8.
1
RGD objects have been annotated to
pigmented paravenous chorioretinal atrophy
(DOID:0111541)
18
papers in RGD have been used to annotate
Crb1
Curation Notes: DNA:missense mutation:cds:p.V162M (human)
An association has been curated linking
Crb1
and
pigmented paravenous chorioretinal atrophy
in Rattus norvegicus.
The association was
inferred from sequence orthology
(ISO)
The annotation was made from
OMIM Disease Annotation Pipeline
The annotation has been inferred from sequence orthology with
CRB1 (Homo sapiens)
[(IAGP) inferred by association of genotype and phenotype]
1
RGD objects have been annotated to
pigmented paravenous chorioretinal atrophy
(DOID:0111541)
18
papers in RGD have been used to annotate
Crb1
An association has been curated linking
Crb1
and
pigmented paravenous chorioretinal atrophy
in Rattus norvegicus.
The association was
inferred from sequence orthology
(ISO)
The annotation was made from
RGD automated import pipeline for CTD gene-to-disease annotations
The annotation has been inferred from sequence orthology with
CRB1 (Homo sapiens)
[(EXP) inferred from experiment]
1
RGD objects have been annotated to
pigmented paravenous chorioretinal atrophy
(DOID:0111541)
18
papers in RGD have been used to annotate
Crb1
Curation Notes: CTD Direct Evidence: marker/mechanism
An association has been curated linking
Crb1
and
pigmented paravenous chorioretinal atrophy
in Rattus norvegicus.
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
CRB1 (Homo sapiens)
[(IAGP) inferred by association of genotype and phenotype]
1
RGD objects have been annotated to
pigmented paravenous chorioretinal atrophy
(DOID:0111541)
18
papers in RGD have been used to annotate
Crb1
Curation Notes: ClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophy
Original References(s):
PMID:10508521
PMID:11231775
PMID:11389483
PMID:12700176
PMID:12843338
PMID:1389483
PMID:1427914
PMID:14971589
PMID:15024725
PMID:15459956
PMID:15623792
PMID:16123401
PMID:16199547
PMID:16272259
PMID:16543197
PMID:16936081
PMID:17576681
PMID:17724218
PMID:17964524
PMID:18055816
PMID:18682808
PMID:19140180
PMID:19339744
PMID:19401883
PMID:20079931
PMID:20301475
PMID:20591486
PMID:20683928
PMID:20956273
PMID:21484995
PMID:21602930
PMID:21757580
PMID:22065545
PMID:22164218
PMID:22219627
PMID:22968130
PMID:23105016
PMID:23362850
PMID:23379534
PMID:23449718
PMID:23462753
PMID:23591405
PMID:23592920
PMID:23661368
PMID:23847139
PMID:24033266
PMID:24265693
PMID:24512366
PMID:24535598
PMID:24715753
PMID:24811962
PMID:24938718
PMID:25097241
PMID:25133751
PMID:25323024
PMID:25356976
PMID:25377065
PMID:25412400
PMID:25474345
PMID:25741868
PMID:25741915
PMID:25741916
PMID:26047050
PMID:26147992
PMID:26312378
PMID:26667666
PMID:26914788
PMID:26957898
PMID:27096895
PMID:27113771
PMID:27157150
PMID:27208204
PMID:27353947
PMID:27380427
PMID:27806333
PMID:28005958
PMID:28041643
PMID:28129017
PMID:28341475
PMID:28492532
PMID:28512305
PMID:28559085
PMID:28714225
PMID:28800606
PMID:28819299
PMID:28912962
PMID:29068479
PMID:29178642
PMID:29200130
PMID:29391521
PMID:29641573
PMID:30029497
PMID:30543658
PMID:30576320
PMID:30718709
PMID:30902645
PMID:31456290
PMID:31630094
PMID:31725702
PMID:31736247
PMID:31896775
PMID:32037395
PMID:32531858
PMID:32581362
PMID:32865313
PMID:33090715
PMID:33342761
PMID:33546218
PMID:33576794
PMID:34758253
PMID:34884448
PMID:34906470
PMID:35119454
PMID:35318874
PMID:36099972
PMID:36460718
PMID:36909829
PMID:9536098
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