RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: autosomal dominant limb-girdle muscular dystrophy type 2
Accession: DOID:0110304
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Definition: An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. (DO)
Synonyms: exact_synonym: LGMD1F; autosomal dominant limb-girdle muscular dystrophy type 1F; muscular dystrophy limb-girdle type 1F
primary_id: MESH:C564242
alt_id: MIM:608423 ; RDO:0013268
xref: ORDO:55595
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Atp6v1f
ATPase H+ transporting V1 subunit F
ISO
ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F
ClinVar
PMID:28492532
NCBI chr 4:58,067,666...58,070,628
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Calu
calumenin
ISO
ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F
ClinVar
PMID:28492532
NCBI chr 4:57,949,086...57,976,589
Ensembl chr 4:57,948,997...57,976,593
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Ccdc136
coiled-coil domain containing 136
ISO
ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F
ClinVar
PMID:28492532
NCBI chr 4:57,997,825...58,027,598
Ensembl chr 4:57,997,853...58,027,646
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Flnc
filamin C
ISO
ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F
ClinVar
PMID:28492532
NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
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Irf5
interferon regulatory factor 5
ISO
ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F
ClinVar
PMID:28492532
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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Kcp
kielin cysteine rich BMP regulator
ISO
ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F
ClinVar
PMID:28492532
NCBI chr 4:58,082,856...58,118,170
Ensembl chr 4:58,082,857...58,109,768
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Opn1sw
opsin 1, short wave sensitive
ISO
ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F
ClinVar
PMID:28492532
NCBI chr 4:57,977,317...57,980,457
Ensembl chr 4:57,977,313...57,980,457
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Tnpo3
transportin 3
ISO
ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11222786 PMID:16199547 PMID:17576681 PMID:23543484 PMID:23667635 PMID:25741868 PMID:28492532 PMID:30567601 PMID:31071488 PMID:31217819 PMID:31674007 PMID:31953240 More...
NCBI chr 4:58,142,954...58,220,365
Ensembl chr 4:58,143,001...58,220,433
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