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GENE - TERM ANNOTATION REPORT

RGD ID: 1348575
Species: Homo sapiens
RGD Object: Gene
Symbol: POMT1
Name: protein O-mannosyltransferase 1
Acc ID: DOID:0050588
Term: muscular dystrophy-dystroglycanopathy type B1
Definition: A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase. (DO)
Definition Source(s): https://www.omim.org/entry/613155 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
POMT1 IAGP 7240710OMIM  
POMT1 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1PMID:24033266 PMID:25741868 PMID:28492532
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:25741868 PMID:28492532
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1PMID:25741868
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1PMID:25741868
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1PMID:25741868
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1PMID:25741868
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1PMID:25741868
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:25741868 PMID:26467025 PMID:28492532 PMID:34930662
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1PMID:25741868
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:23894383 PMID:25741868 PMID:33200426 PMID:34015165
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1PMID:25741868
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED 
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:25741868 PMID:26467025 PMID:28492532
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATEDPMID:17878207
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:12369018 PMID:15637732 PMID:16199547 PMID:16575835 PMID:17559086 PMID:22323514 PMID:25741868 PMID:28492532 PMID:31311558
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1PMID:25741868
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:25741868 PMID:28492532
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:25741868
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1PMID:12369018 PMID:15637732 PMID:16575835 PMID:25741868 PMID:28492532
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:12369018 PMID:15637732 PMID:16575835 PMID:25741868 PMID:28492532 PMID:28815891 PMID:31680349
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:12369018 PMID:15637732 PMID:16199547 PMID:16575835 PMID:16717220 PMID:22323514 PMID:25741868 PMID:28492532
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:12369018 PMID:16575835 PMID:17559086 PMID:18640039 PMID:18752264 PMID:19299310 PMID:22323514 PMID:23757202 PMID:24304607 PMID:24491487 PMID:25741868 PMID:28492532 PMID:31311558 PMID:32860008
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:11320179 PMID:12369018 PMID:15637732 PMID:16575835 PMID:25741868 PMID:28492532 PMID:31311558
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:16575835 PMID:28492532
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:14678799 PMID:15792865 PMID:17878207 PMID:25741868 PMID:28097321 PMID:28492532 PMID:30426380 PMID:31311558
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:11053679 PMID:16575835 PMID:16717220 PMID:19299310 PMID:25741868 PMID:28492532
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:11053679 PMID:12369018 PMID:15637732 PMID:16575835 PMID:16717220 PMID:28492532 PMID:31311558
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:16575835 PMID:16717220 PMID:18513969 PMID:26245304 PMID:28492532
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:16717220 PMID:17869517 PMID:17878207 PMID:18513969 PMID:20816175 PMID:22549409 PMID:24491487 PMID:25741868 PMID:26467025 PMID:28492532
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1PMID:25741868 PMID:28492532
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:12369018 PMID:15637732 PMID:16575835 PMID:25741868 PMID:28116189 PMID:28492532 PMID:31311558
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:25741868 PMID:27159402 PMID:27193224 PMID:28492532 PMID:29101272
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1PMID:24033266 PMID:25741868 PMID:28492532
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:24033266 PMID:25741868 PMID:26467025
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1PMID:12369018 PMID:15637732 PMID:16575835 PMID:22323514 PMID:25741868 PMID:27066551 PMID:28492532 PMID:35606784
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATEDPMID:15637732 PMID:18647264 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1PMID:24033266 PMID:25741868 PMID:28492532
POMT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1PMID:24033266 PMID:25741868 PMID:28492532
POMT1 ISSPomt1 (Mus musculus)13592920MouseDOOMIM:613155 
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