Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:congenital muscular dystrophy-dystroglycanopathy type A8
go back to main search page
Accession:DOID:0111231 term browser browse the term
Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. (DO)
Synonyms:exact_synonym: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8;   MDDGA8;   Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 8;   WALKER-WARBURG SYNDROME, GTDC2-RELATED;   Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
 primary_id: OMIM:614830
 alt_id: RDO:9000583


show annotations for term's descendants           Sort by:
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:43,580,752...43,612,637
Ensembl chr 3:44,640,215...44,669,885 		JBrowse link
G ACKR2 atypical chemokine receptor 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,710,724...42,772,396
Ensembl chr 3:43,788,312...43,835,453 		JBrowse link
G ANO10 anoctamin 10 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:43,255,858...43,581,466
Ensembl chr 3:44,317,708...44,555,535 		JBrowse link
G CCDC13 coiled-coil domain containing 13 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,615,424...42,680,102
Ensembl chr 3:43,679,176...43,743,463 		JBrowse link
G CCK cholecystokinin ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,168,012...42,176,358
Ensembl chr 3:42,431,022...42,439,396 		JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,775,679...42,779,440
Ensembl chr 3:43,824,423...43,842,716 		JBrowse link
G GASK1A golgi associated kinase 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532
G HHATL hedgehog acyltransferase like ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,600,209...42,610,540
Ensembl chr 3:43,664,271...43,674,486 		JBrowse link
G HIGD1A HIG1 hypoxia inducible domain family member 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,692,771...42,710,654
Ensembl chr 3:43,754,154...43,773,460 		JBrowse link
G KLHL40 kelch like family member 40 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,592,977...42,600,100
Ensembl chr 3:43,657,128...43,664,055 		JBrowse link
G KRBOX1 KRAB box domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,840,198...42,846,633
Ensembl chr 3:43,904,935...43,908,914
Ensembl chr 3:43,904,935...43,908,914 		JBrowse link
G LYZL4 lysozyme like 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,302,237...42,378,700
Ensembl chr 3:42,565,535...42,579,033 		JBrowse link
G NKTR natural killer cell triggering receptor ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,506,135...42,556,343
Ensembl chr 3:43,571,457...43,617,801 		JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED OMIM
ClinVar		 PMID:22958903 PMID:25558065 PMID:25741868 PMID:26436962 PMID:26467025 More... NCBI chr 3:42,973,492...42,997,288
Ensembl chr 3:44,035,815...44,037,557 		JBrowse link
G SEC22C SEC22 homolog C, vesicle trafficking protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,452,946...42,506,666
Ensembl chr 3:42,715,553...42,736,927 		JBrowse link
G SNRK SNF related kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:43,179,640...43,244,364
Ensembl chr 3:44,244,453...44,305,648 		JBrowse link
G SS18L2 SS18 like 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,487,389...42,500,908
Ensembl chr 3:43,552,858...43,565,681 		JBrowse link
G TRAK1 trafficking kinesin protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:41,920,678...42,135,881
Ensembl chr 3:42,262,630...42,399,068 		JBrowse link
G ULK4 unc-51 like kinase 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:41,152,261...41,864,865
Ensembl chr 3:41,568,907...42,121,959 		JBrowse link
G VIPR1 vasoactive intestinal peptide receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,407,591...42,442,565
Ensembl chr 3:42,670,195...42,705,170 		JBrowse link
G ZBTB47 zinc finger and BTB domain containing 47 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,560,887...42,573,752
Ensembl chr 3:43,629,405...43,639,232 		JBrowse link
G ZNF662 zinc finger protein 662 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,809,150...42,823,194
Ensembl chr 3:43,872,164...43,883,699 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      Walker-Warburg syndrome 71
        congenital muscular dystrophy-dystroglycanopathy type A 58
          congenital muscular dystrophy-dystroglycanopathy type A8 23
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        peripheral nervous system disease 4039
          neuropathy 3848
            neuromuscular disease 3026
              muscular disease 2119
                muscle tissue disease 1275
                  atrophic muscular disease 602
                    muscular dystrophy 598
                      congenital muscular dystrophy 183
                        muscular dystrophy-dystroglycanopathy 71
                          congenital muscular dystrophy-dystroglycanopathy type A 58
                            congenital muscular dystrophy-dystroglycanopathy type A8 23
paths to the root