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GENE - TERM ANNOTATION REPORT
2 Annotations Found.
An association has been curated linking
Scn8a
and
developmental and epileptic encephalopathy 13
in Ictidomys tridecemlineatus.
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
SCN8A (Homo sapiens)
[(IAGP) inferred by association of genotype and phenotype]
5
RGD objects have been annotated to
developmental and epileptic encephalopathy 13
(DOID:0080445)
0
papers in RGD have been used to annotate
Scn8a
An association has been curated linking
Scn8a
and
developmental and epileptic encephalopathy 13
in Ictidomys tridecemlineatus.
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
SCN8A (Homo sapiens)
[(IAGP) inferred by association of genotype and phenotype]
5
RGD objects have been annotated to
developmental and epileptic encephalopathy 13
(DOID:0080445)
0
papers in RGD have been used to annotate
Scn8a
Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13
Original References(s):
PMID:12374766
PMID:15525788
PMID:15800189
PMID:17576681
PMID:17881658
PMID:18414213
PMID:19465131
PMID:20869590
PMID:22365152
PMID:23020937
PMID:23708187
PMID:23934111
PMID:24194747
PMID:24352161
PMID:24874546
PMID:24888894
PMID:25046240
PMID:25227913
PMID:25239001
PMID:25326635
PMID:25326637
PMID:25533962
PMID:25568300
PMID:25666757
PMID:25725044
PMID:25741868
PMID:25785782
PMID:25799905
PMID:25818041
PMID:25849321
PMID:25914188
PMID:25951352
PMID:26029160
PMID:26220391
PMID:26235738
PMID:26235739
PMID:26252990
PMID:26297079
PMID:26467025
PMID:26647175
PMID:26677014
PMID:26680202
PMID:26900580
PMID:26993267
PMID:27165006
PMID:27210545
PMID:27375106
PMID:27779742
PMID:27864847
PMID:27875746
PMID:28135719
PMID:28387369
PMID:28492532
PMID:28676574
PMID:28708303
PMID:28735751
PMID:28923014
PMID:28973083
PMID:29100083
PMID:29186148
PMID:29263050
PMID:29432985
PMID:29588952
PMID:29655203
PMID:29720203
PMID:30078772
PMID:30171078
PMID:30185235
PMID:30615093
PMID:31026061
PMID:31680123
PMID:31780880
PMID:31904124
PMID:32581362
PMID:32845893
PMID:32901917
PMID:32916281
PMID:33201365
PMID:35599849
PMID:35701389
PMID:9536098
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