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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:Usher syndrome type 1G
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Accession:DOID:0110834 term browser browse the term
Definition:An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: USH1G;   USH1G-RELATED CONDITION;   USH1G-RELATED DISORDER;   USH1G-RELATED DISORDERS;   Usher syndrome type IG
 primary_id: MESH:C564643;   RDO:0011956
 alt_id: OMIM:606943



show annotations for term's descendants           Sort by:
Usher syndrome type 1G term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130061627 ATAC-STARR-seq lymphoblastoid active region 12722 IAGP ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:12588794 PMID:22219650 PMID:28492532 PMID:28944237 NCBI chr17:74,919,520...74,919,569 JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
JBrowse link
G USH1G USH1 protein network component sans IAGP
EXP
ISS
ClinVar Annotator: match by term: Usher syndrome, type 1G
ClinVar Annotator: match by term: USH1G-Related Disorders
ClinVar Annotator: match by term: Usher syndrome type 1G
CTD Direct Evidence: marker/mechanism
OMIM:606943
ClinVar Annotator: match by term: USH1G-related condition
OMIM
ClinVar
CTD
MouseDO
PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 PMID:16283141 More... NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40721
    syndrome 17731
      Usher syndrome 222
        Usher syndrome type 1 17
          Usher syndrome type 1G 3
Path 2
Term Annotations click to browse term
  disease 40721
    Pathological Conditions, Signs and Symptoms 20960
      Signs and Symptoms 16039
        Neurologic Manifestations 15108
          sensory system disease 9668
            Otorhinolaryngologic Diseases 2265
              auditory system disease 1331
                Hearing Disorders 1131
                  Hearing Loss 1125
                    Deafness 635
                      Deaf-Blind Disorders 239
                        Usher syndrome 222
                          Usher syndrome type 1 17
                            Usher syndrome type 1G 3
paths to the root