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GENE - TERM ANNOTATION REPORT
17 Annotations Found.
An association has been curated linking
DNM1L
and
encephalopathy due to defective mitochondrial and peroxisomal fission 1
in Homo sapiens.
The association was
inferred by association of genotype and phenotype
(IAGP)
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 by association of genotype and phenotype with
RGD:11531293 (Homo sapiens)
4
RGD objects have been annotated to
encephalopathy due to defective mitochondrial and peroxisomal fission 1
(DOID:0070347)
15
papers in RGD have been used to annotate
DNM1L
Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Original References(s):
PMID:25741868
PMID:26992161
PMID:28492532
PMID:30801875
PMID:31475481
An association has been curated linking
DNM1L
and
encephalopathy due to defective mitochondrial and peroxisomal fission 1
in Homo sapiens.
The association was
inferred by association of genotype and phenotype
(IAGP)
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 by association of genotype and phenotype with
RGD:11531398 (Homo sapiens)
4
RGD objects have been annotated to
encephalopathy due to defective mitochondrial and peroxisomal fission 1
(DOID:0070347)
15
papers in RGD have been used to annotate
DNM1L
Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Original References(s):
PMID:25741868
PMID:26825290
PMID:27328748
PMID:28492532
An association has been curated linking
DNM1L
and
encephalopathy due to defective mitochondrial and peroxisomal fission 1
in Homo sapiens.
The association was
inferred by association of genotype and phenotype
(IAGP)
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 by association of genotype and phenotype with
RGD:11531432 (Homo sapiens)
4
RGD objects have been annotated to
encephalopathy due to defective mitochondrial and peroxisomal fission 1
(DOID:0070347)
15
papers in RGD have been used to annotate
DNM1L
Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Original References(s):
PMID:26825290
An association has been curated linking
DNM1L
and
encephalopathy due to defective mitochondrial and peroxisomal fission 1
in Homo sapiens.
The association was
inferred by association of genotype and phenotype
(IAGP)
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 by association of genotype and phenotype with
RGD:8596997 (Homo sapiens)
4
RGD objects have been annotated to
encephalopathy due to defective mitochondrial and peroxisomal fission 1
(DOID:0070347)
15
papers in RGD have been used to annotate
DNM1L
Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Original References(s):
PMID:17460227
PMID:20696759
An association has been curated linking
DNM1L
and
encephalopathy due to defective mitochondrial and peroxisomal fission 1
in Homo sapiens.
The association was
inferred by association of genotype and phenotype
(IAGP)
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 by association of genotype and phenotype with
RGD:11522964 (Homo sapiens)
4
RGD objects have been annotated to
encephalopathy due to defective mitochondrial and peroxisomal fission 1
(DOID:0070347)
15
papers in RGD have been used to annotate
DNM1L
Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Original References(s):
PMID:17460227
An association has been curated linking
DNM1L
and
encephalopathy due to defective mitochondrial and peroxisomal fission 1
in Homo sapiens.
The association was
inferred by association of genotype and phenotype
(IAGP)
The annotation was made from
OMIM Disease Annotation Pipeline
4
RGD objects have been annotated to
encephalopathy due to defective mitochondrial and peroxisomal fission 1
(DOID:0070347)
15
papers in RGD have been used to annotate
DNM1L
An association has been curated linking
DNM1L
and
encephalopathy due to defective mitochondrial and peroxisomal fission 1
in Homo sapiens.
The association was
inferred by association of genotype and phenotype
(IAGP)
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 by association of genotype and phenotype with
RGD:11531395 (Homo sapiens)
4
RGD objects have been annotated to
encephalopathy due to defective mitochondrial and peroxisomal fission 1
(DOID:0070347)
15
papers in RGD have been used to annotate
DNM1L
Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Original References(s):
PMID:25326635
PMID:25741868
PMID:26931468
An association has been curated linking
DNM1L
and
encephalopathy due to defective mitochondrial and peroxisomal fission 1
in Homo sapiens.
The association was
inferred by association of genotype and phenotype
(IAGP)
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 by association of genotype and phenotype with
RGD:11531388 (Homo sapiens)
4
RGD objects have been annotated to
encephalopathy due to defective mitochondrial and peroxisomal fission 1
(DOID:0070347)
15
papers in RGD have been used to annotate
DNM1L
Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Original References(s):
PMID:18414213
PMID:20696759
PMID:26604000
An association has been curated linking
DNM1L
and
encephalopathy due to defective mitochondrial and peroxisomal fission 1
in Homo sapiens.
The association was
inferred by association of genotype and phenotype
(IAGP)
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 by association of genotype and phenotype with
RGD:40886713 (Homo sapiens)
4
RGD objects have been annotated to
encephalopathy due to defective mitochondrial and peroxisomal fission 1
(DOID:0070347)
15
papers in RGD have been used to annotate
DNM1L
Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Original References(s):
PMID:20696759
PMID:26931468
PMID:31587467
An association has been curated linking
DNM1L
and
encephalopathy due to defective mitochondrial and peroxisomal fission 1
in Homo sapiens.
The association was
inferred from experiment
(EXP)
The annotation was made from
RGD automated import pipeline for CTD gene-to-disease annotations
4
RGD objects have been annotated to
encephalopathy due to defective mitochondrial and peroxisomal fission 1
(DOID:0070347)
15
papers in RGD have been used to annotate
DNM1L
Curation Notes: CTD Direct Evidence: marker/mechanism
An association has been curated linking
DNM1L
and
encephalopathy due to defective mitochondrial and peroxisomal fission 1
in Homo sapiens.
The association was
inferred by association of genotype and phenotype
(IAGP)
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 by association of genotype and phenotype with
RGD:11531430 (Homo sapiens)
4
RGD objects have been annotated to
encephalopathy due to defective mitochondrial and peroxisomal fission 1
(DOID:0070347)
15
papers in RGD have been used to annotate
DNM1L
Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Original References(s):
PMID:27328748
PMID:28492532
An association has been curated linking
DNM1L
and
encephalopathy due to defective mitochondrial and peroxisomal fission 1
in Homo sapiens.
The association was
inferred by association of genotype and phenotype
(IAGP)
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 by association of genotype and phenotype with
RGD:10409143|RGD:21072367 (Homo sapiens)
&
RGD:10409143|RGD:21072367 (Homo sapiens)
4
RGD objects have been annotated to
encephalopathy due to defective mitochondrial and peroxisomal fission 1
(DOID:0070347)
15
papers in RGD have been used to annotate
DNM1L
Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Original References(s):
PMID:28492532
An association has been curated linking
DNM1L
and
encephalopathy due to defective mitochondrial and peroxisomal fission 1
in Homo sapiens.
The association was
inferred by association of genotype and phenotype
(IAGP)
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 by association of genotype and phenotype with
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
&
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
&
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
&
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
&
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
&
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
&
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
&
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
&
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
&
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
&
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
&
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
&
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
&
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
&
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
&
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
&
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
&
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
&
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
&
RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:329848842|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066 (Homo sapiens)
4
RGD objects have been annotated to
encephalopathy due to defective mitochondrial and peroxisomal fission 1
(DOID:0070347)
15
papers in RGD have been used to annotate
DNM1L
Curation Notes: ClinVar Annotator: match by term: DNM1L-related disorders | ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Original References(s):
PMID:25741868
An association has been curated linking
DNM1L
and
encephalopathy due to defective mitochondrial and peroxisomal fission 1
in Homo sapiens.
The association was
inferred by association of genotype and phenotype
(IAGP)
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 by association of genotype and phenotype with
RGD:10411409 (Homo sapiens)
4
RGD objects have been annotated to
encephalopathy due to defective mitochondrial and peroxisomal fission 1
(DOID:0070347)
15
papers in RGD have been used to annotate
DNM1L
Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Original References(s):
PMID:20696759
PMID:25741868
PMID:26604000
PMID:27145208
PMID:28492532
An association has been curated linking
DNM1L
and
encephalopathy due to defective mitochondrial and peroxisomal fission 1
in Homo sapiens.
The association was
inferred by association of genotype and phenotype
(IAGP)
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 by association of genotype and phenotype with
RGD:14393104 (Homo sapiens)
4
RGD objects have been annotated to
encephalopathy due to defective mitochondrial and peroxisomal fission 1
(DOID:0070347)
15
papers in RGD have been used to annotate
DNM1L
Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Original References(s):
PMID:25741868
PMID:28492532
PMID:30850373
PMID:33644862
An association has been curated linking
DNM1L
and
encephalopathy due to defective mitochondrial and peroxisomal fission 1
in Homo sapiens.
The association was
inferred by association of genotype and phenotype
(IAGP)
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 by association of genotype and phenotype with
RGD:12741650|RGD:155794734|RGD:21072357|RGD:21072359|RGD:21072364|RGD:401860216 (Homo sapiens)
&
RGD:12741650|RGD:155794734|RGD:21072357|RGD:21072359|RGD:21072364|RGD:401860216 (Homo sapiens)
&
RGD:12741650|RGD:155794734|RGD:21072357|RGD:21072359|RGD:21072364|RGD:401860216 (Homo sapiens)
&
RGD:12741650|RGD:155794734|RGD:21072357|RGD:21072359|RGD:21072364|RGD:401860216 (Homo sapiens)
&
RGD:12741650|RGD:155794734|RGD:21072357|RGD:21072359|RGD:21072364|RGD:401860216 (Homo sapiens)
&
RGD:12741650|RGD:155794734|RGD:21072357|RGD:21072359|RGD:21072364|RGD:401860216 (Homo sapiens)
4
RGD objects have been annotated to
encephalopathy due to defective mitochondrial and peroxisomal fission 1
(DOID:0070347)
15
papers in RGD have been used to annotate
DNM1L
Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
An association has been curated linking
DNM1L
and
encephalopathy due to defective mitochondrial and peroxisomal fission 1
in Homo sapiens.
The association was
inferred by association of genotype and phenotype
(IAGP)
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 by association of genotype and phenotype with
RGD:11546460|RGD:11548985|RGD:11549760|RGD:243063860 (Homo sapiens)
&
RGD:11546460|RGD:11548985|RGD:11549760|RGD:243063860 (Homo sapiens)
&
RGD:11546460|RGD:11548985|RGD:11549760|RGD:243063860 (Homo sapiens)
&
RGD:11546460|RGD:11548985|RGD:11549760|RGD:243063860 (Homo sapiens)
4
RGD objects have been annotated to
encephalopathy due to defective mitochondrial and peroxisomal fission 1
(DOID:0070347)
15
papers in RGD have been used to annotate
DNM1L
Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Original References(s):
PMID:25741868
PMID:28492532
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