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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 recessive limb-girdle muscular dystrophy type 2K
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Accession:DOID:0110297 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1). (DO)
Synonyms:exact_synonym: LGMD2K;   LGMDR11;   MDDGC1;   POMT1-related muscle-eye-brain disease;   POMT1-related muscle-eye-brain diseases;   Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related;   autosomal recessive limb-girdle muscular dystrophy 11;   limb-girdle muscular dystrophy, type 2K;   limb-girdle muscular dystrophy-dystroglycanopathy, type C1;   limb-girdle muscular dystrophy-intellectual disability syndrome;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
 primary_id: OMIM:609308
 xref: NCI:C133730;   ORDO:86812
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive limb-girdle muscular dystrophy type 2K term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,016...130,887,675
JBrowse link
G AIF1L allograft inflammatory factor 1 like IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:131,096,531...131,123,144
Ensembl chr 9:131,096,476...131,123,152
JBrowse link
G EXOSC2 exosome component 2 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,704,894
JBrowse link
G FAM78A family with sequence similarity 78 member A IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:131,258,078...131,281,928
Ensembl chr 9:131,258,076...131,276,510
JBrowse link
G FIBCD1 fibrinogen C domain containing 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:130,902,440...130,939,247
Ensembl chr 9:130,902,438...130,939,286
JBrowse link
G FKRP fukutin related protein IAGP ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED ClinVar PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19820980 PMID:19835634 PMID:19900540 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28492532 NCBI chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G LAMC3 laminin subunit gamma 3 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:131,009,174...131,094,473
Ensembl chr 9:131,009,174...131,094,473
JBrowse link
G NUP214 nucleoporin 214 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:131,125,586...131,234,663
Ensembl chr 9:131,125,586...131,234,663
JBrowse link
G PLPP7 phospholipid phosphatase 7 (inactive) IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:131,289,694...131,309,261
Ensembl chr 9:131,289,459...131,359,022
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 11
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED
ClinVar
OMIM
PMID:9536098 PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 PMID:16575835 PMID:16717220 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:18414213 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19222032 PMID:19299310 PMID:20816175 PMID:21102627 PMID:22323514 PMID:22522420 PMID:22549409 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25326635 PMID:25741868 PMID:26467025 PMID:27193224 PMID:28116189 PMID:28157257 PMID:28182637 PMID:28492532 PMID:28556411 PMID:30060766 PMID:32860008 NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,902...131,523,806
Ensembl chr 9:131,502,902...131,523,806
JBrowse link
G PRDM12 PR/SET domain 12 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:130,664,594...130,682,983
Ensembl chr 9:130,664,594...130,682,986
Ensembl chr 9:130,664,594...130,682,986
JBrowse link
G PRRC2B proline rich coiled-coil 2B IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:131,373,651...131,500,193
Ensembl chr 9:131,373,636...131,500,197
JBrowse link
G QRFP pyroglutamylated RFamide peptide IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:130,892,707...130,896,812
Ensembl chr 9:130,892,707...130,896,812
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19890
    Developmental Disease 13316
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10559
        genetic disease 10042
          monogenic disease 7617
            autosomal genetic disease 6524
              autosomal recessive disease 3698
                autosomal recessive limb-girdle muscular dystrophy 111
                  autosomal recessive limb-girdle muscular dystrophy type 2K 13
Path 2
Term Annotations click to browse term
  disease 19890
    disease of anatomical entity 18505
      nervous system disease 14498
        peripheral nervous system disease 2621
          neuropathy 2430
            neuromuscular disease 1951
              muscular disease 1291
                muscle tissue disease 889
                  myopathy 721
                    muscular dystrophy 345
                      limb-girdle muscular dystrophy 154
                        autosomal recessive limb-girdle muscular dystrophy 111
                          autosomal recessive limb-girdle muscular dystrophy type 2K 13
paths to the root