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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 2C
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Accession:DOID:0110839 term browser browse the term
Definition:An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14. (DO)
Synonyms:exact_synonym: USH2C;   Usher Syndrome Type 2c, GPR98/PDZD Digenic;   Usher Syndrome, Type IIC
 narrow_synonym: USH2B;   USHER SYNDROME, TYPE IIB;   Usher syndrome, Type IIC, GPR98/PDZD7 digenic
 primary_id: MESH:C536492
 alt_id: OMIM:605472
 xref: NCI:C153174
For additional species annotation, visit the Alliance of Genome Resources.


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Usher syndrome type 2C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by OMIM:605472
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Usher syndrome type 2c, GPR98/PDZD digenic
ClinVar Annotator: match by term: Usher syndrome, type 2C
OMIM
ClinVar
PMID:10234513, PMID:14740321, PMID:15671307, PMID:18414213, PMID:18854872, PMID:19357116, PMID:19357117, PMID:20440071, PMID:21569298, PMID:21946352, PMID:22135276, PMID:22147658, PMID:22334370, PMID:22952768, PMID:23441107, PMID:23767834, PMID:23967202, PMID:24033266, PMID:24123792, PMID:24154662, PMID:24498627, PMID:25133751, PMID:25262649, PMID:25333064, PMID:25404053, PMID:25468891, PMID:25741868, PMID:25741869, PMID:26164827, PMID:26338283, PMID:26467025, PMID:26872967, PMID:26969326, PMID:27068579, PMID:27108799, PMID:27460420, PMID:27575413, PMID:27884173, PMID:28041643, PMID:28492532, PMID:29142287, PMID:29261713, PMID:32860008 NCBI chr 2:8,926,843...9,504,455
Ensembl chr 2:8,926,850...9,504,134
JBrowse link
G Cnksr1 connector enhancer of kinase suppressor of Ras 1 ISO ClinVar Annotator: match by term: Usher syndrome, type 2C ClinVar PMID:25741868 NCBI chr 5:152,447,348...152,458,005
Ensembl chr 5:152,446,845...152,458,023
JBrowse link
G Crygc crystallin, gamma C ISO ClinVar Annotator: match by term: Usher syndrome, type 2C ClinVar PMID:24033266, PMID:25741868 NCBI chr 9:71,786,246...71,788,281
Ensembl chr 9:71,786,248...71,788,281
JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Usher syndrome, type 2C ClinVar PMID:21900877, PMID:25741868, PMID:28492532 NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554
JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome, type 2C
ClinVar Annotator: match by term: Usher syndrome type 2c, GPR98/PDZD digenic
OMIM
ClinVar
PMID:20440071, PMID:25741868 NCBI chr 1:264,776,393...264,796,206
Ensembl chr 1:264,776,398...264,794,938
JBrowse link
G Slc4a7 solute carrier family 4 member 7 ISS OMIM:605472 MouseDO NCBI chr15:11,832,611...11,912,923
Ensembl chr15:11,836,286...11,912,916
JBrowse link
G Wdr36 WD repeat domain 36 ISO ClinVar Annotator: match by term: Usher syndrome, type 2C ClinVar PMID:15677485, PMID:18172102, PMID:19150991, PMID:22995991, PMID:25333069, PMID:25741868 NCBI chr18:25,637,475...25,665,801
Ensembl chr18:25,637,588...25,665,639
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Usher syndrome 50
        Usher syndrome type 2 13
          Usher syndrome type 2C 7
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          Otorhinolaryngologic Diseases 1202
            auditory system disease 767
              Hearing Disorders 623
                Hearing Loss 618
                  Deafness 276
                    Deaf-Blind Disorders 58
                      Usher syndrome 50
                        Usher syndrome type 2 13
                          Usher syndrome type 2C 7
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.