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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:congenital muscular dystrophy-dystroglycanopathy type A8
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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 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:43,690,870...43,734,371
Ensembl chr 3:43,690,108...43,734,371 		JBrowse link
G ACKR2 atypical chemokine receptor 2 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,809,445...42,867,286
Ensembl chr 3:42,804,752...42,887,974 		JBrowse link
G ANO10 anoctamin 10 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:43,365,848...43,691,594
Ensembl chr 3:43,354,859...43,691,594 		JBrowse link
G CCDC13 coiled-coil domain containing 13 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,704,118...42,773,253
Ensembl chr 3:42,705,756...42,773,253 		JBrowse link
G CCK cholecystokinin IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,257,826...42,266,185
Ensembl chr 3:42,257,825...42,266,185 		JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,872,192...42,875,879
Ensembl chr 3:42,856,005...42,875,898 		JBrowse link
G GASK1A golgi associated kinase 1A IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,979,311...43,057,715
Ensembl chr 3:42,979,087...43,067,898 		JBrowse link
G HHATL hedgehog acyltransferase like IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,692,663...42,702,798
Ensembl chr 3:42,692,663...42,702,824 		JBrowse link
G HIGD1A HIG1 hypoxia inducible domain family member 1A IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,782,908...42,804,490
Ensembl chr 3:42,782,908...42,804,490 		JBrowse link
G KLHL40 kelch like family member 40 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,685,537...42,692,544
Ensembl chr 3:42,685,537...42,692,544 		JBrowse link
G KRBOX1 KRAB box domain containing 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,936,386...42,942,792
Ensembl chr 3:42,936,386...42,942,792 		JBrowse link
G KRBOX1-AS1 KRBOX1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,934,244...42,936,785
Ensembl chr 3:42,934,252...42,936,785 		JBrowse link
G LYZL4 lysozyme like 4 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,360,764...42,410,610
Ensembl chr 3:42,397,083...42,410,610 		JBrowse link
G NKTR natural killer cell triggering receptor IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,600,612...42,648,735
Ensembl chr 3:42,600,655...42,648,735 		JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
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 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085 		JBrowse link
G SEC22C SEC22 homolog C, vesicle trafficking protein IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,547,969...42,601,078
Ensembl chr 3:42,547,969...42,601,080 		JBrowse link
G SNRK SNF related kinase IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:43,286,540...43,351,143
Ensembl chr 3:43,286,512...43,424,764 		JBrowse link
G SS18L2 SS18 like 2 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,581,840...42,596,934
Ensembl chr 3:42,581,840...42,596,934 		JBrowse link
G TRAK1 trafficking kinesin protein 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,013,093...42,225,890
Ensembl chr 3:42,013,802...42,225,890 		JBrowse link
G ULK4 unc-51 like kinase 4 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:41,246,599...41,962,103
Ensembl chr 3:41,246,599...41,962,130 		JBrowse link
G VIPR1 vasoactive intestinal peptide receptor 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,489,299...42,537,568
Ensembl chr 3:42,489,299...42,537,573 		JBrowse link
G ZBTB47 zinc finger and BTB domain containing 47 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,652,931...42,667,580
Ensembl chr 3:42,653,697...42,667,580 		JBrowse link
G ZNF662 zinc finger protein 662 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,906,142...42,919,334
Ensembl chr 3:42,906,142...42,919,334 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      Walker-Warburg syndrome 98
        congenital muscular dystrophy-dystroglycanopathy type A 83
          congenital muscular dystrophy-dystroglycanopathy type A8 24
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        peripheral nervous system disease 5382
          neuropathy 5129
            neuromuscular disease 4041
              muscular disease 2807
                muscle tissue disease 1715
                  atrophic muscular disease 853
                    muscular dystrophy 849
                      congenital muscular dystrophy 248
                        muscular dystrophy-dystroglycanopathy 98
                          congenital muscular dystrophy-dystroglycanopathy type A 83
                            congenital muscular dystrophy-dystroglycanopathy type A8 24
paths to the root