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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:Cerebral Visual Impairment and Intellectual Disability
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Accession:DOID:9005335 term browser browse the term
For additional species annotation, visit the Alliance of Genome Resources.



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Cerebral Visual Impairment and Intellectual Disability term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017
JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
JBrowse link
G Amot angiomotin ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr  X:108,982,399...109,041,265
Ensembl chr  X:108,984,022...109,041,272
JBrowse link
G Ankrd37 ankyrin repeat domain 37 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr16:46,269,025...46,271,971
Ensembl chr16:46,268,443...46,271,963
JBrowse link
G Arhgef10l Rho guanine nucleotide exchange factor 10 like ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 5:152,792,247...152,935,255
Ensembl chr 5:152,792,252...152,919,538
JBrowse link
G Atp6v1a ATPase H+ transporting V1 subunit A ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr11:56,561,444...56,614,694
Ensembl chr11:56,560,974...56,614,694
JBrowse link
G Dcaf6 DDB1 and CUL4 associated factor 6 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr13:77,626,257...77,727,645
Ensembl chr13:77,626,307...77,727,512
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:25741868 PMID:26350515 PMID:27479843 PMID:33597769 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
JBrowse link
G Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr10:26,936,592...27,156,141
Ensembl chr10:26,936,551...27,151,251
JBrowse link
G Kctd19 potassium channel tetramerization domain containing 19 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr19:33,259,869...33,292,011
Ensembl chr19:33,259,970...33,292,006
JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:25804403 PMID:26350515 NCBI chr 9:55,975,574...56,044,325
Ensembl chr 9:55,975,667...56,044,464
JBrowse link
G Rere arginine-glutamic acid dipeptide repeats ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 PMID:27087320 NCBI chr 5:160,765,855...161,097,678
Ensembl chr 5:160,765,934...161,097,677
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402
JBrowse link
G Slc25a16 solute carrier family 25 member 16 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr20:25,661,158...25,717,558
Ensembl chr20:25,662,055...25,716,319
JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852
JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
JBrowse link
G Uhmk1 U2AF homology motif kinase 1 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr13:82,396,646...82,416,292
Ensembl chr13:82,401,187...82,416,292
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    sensory system disease 6575
      Vision Disorders 269
        Cerebral Visual Impairment and Intellectual Disability 17
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        central nervous system disease 11414
          brain disease 10710
            disease of mental health 7594
              developmental disorder of mental health 4927
                specific developmental disorder 4191
                  intellectual disability 3995
                    Cerebral Visual Impairment and Intellectual Disability 17
paths to the root