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GENE - TERM ANNOTATION REPORT
1 Annotations Found.
An association has been curated linking
Ncaph2
and
mitochondrial complex IV deficiency nuclear type 2
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
NCAPH2 (Homo sapiens)
[(IAGP) inferred by association of genotype and phenotype]
6
RGD objects have been annotated to
mitochondrial complex IV deficiency nuclear type 2
(DOID:0080357)
1
papers in RGD have been used to annotate
Ncaph2
Curation Notes: ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
Original References(s):
PMID:10545952
PMID:10749987
PMID:11673586
PMID:12020273
PMID:14970747
PMID:14994243
PMID:15210538
PMID:16326995
PMID:16765077
PMID:18804471
PMID:18924171
PMID:19353847
PMID:19879173
PMID:20159436
PMID:20445193
PMID:23345593
PMID:23407777
PMID:23643385
PMID:23719228
PMID:25058219
PMID:25097374
PMID:25741868
PMID:25959673
PMID:27290639
PMID:28429146
PMID:28492532
PMID:28518168
PMID:28798025
PMID:29193756
PMID:29351582
PMID:30340907
PMID:30593977
PMID:31589614
PMID:31623504
PMID:31967322
PMID:32461654
PMID:32600061
PMID:32668698
PMID:33098801
PMID:33171185
PMID:34362006
PMID:34426522
PMID:34691145
PMID:34732400
PMID:34746378
PMID:35083221
PMID:35094435
PMID:36678915
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