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GENE - TERM ANNOTATION REPORT
1 Annotations Found.
An association has been curated linking
Col6a2
and
Bethlem myopathy
in Chinchilla lanigera.
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
COL6A2 (Homo sapiens)
[(IAGP) inferred by association of genotype and phenotype]
58
RGD objects have been annotated to
Bethlem myopathy
(DOID:0050663)
2
papers in RGD have been used to annotate
Col6a2
Curation Notes: ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures
Original References(s):
PMID:12840783
PMID:15689448
PMID:16130093
PMID:16199547
PMID:16935502
PMID:17576681
PMID:17886299
PMID:18160674
PMID:18366090
PMID:18378883
PMID:18414213
PMID:18825676
PMID:18852439
PMID:19309692
PMID:19344236
PMID:19564581
PMID:19884007
PMID:19949035
PMID:20301676
PMID:20576434
PMID:20729548
PMID:20976770
PMID:20981092
PMID:21280092
PMID:22992134
PMID:23040494
PMID:23757202
PMID:24033266
PMID:24038877
PMID:24314752
PMID:24801232
PMID:25533456
PMID:25535305
PMID:25635128
PMID:25741868
PMID:26467025
PMID:26752647
PMID:27159402
PMID:27447704
PMID:27456059
PMID:27782108
PMID:27854218
PMID:28492532
PMID:28660205
PMID:29172004
PMID:29406609
PMID:29419890
PMID:30467950
PMID:30564623
PMID:31066050
PMID:31069529
PMID:31127727
PMID:32528171
PMID:34167565
PMID:4793163
PMID:7695699
PMID:8218237
PMID:9536098
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