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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
Synonyms:primary_id: RDO:9001166
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
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 2:199,284,177...199,305,793
Ensembl chr 2:199,283,909...199,305,799 		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 5:151,209,894...151,277,192
Ensembl chr 5:151,211,342...151,277,165 		JBrowse link
G Amot angiomotin ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr  X:116,751,231...116,810,238
Ensembl chr  X:116,751,230...116,792,864 		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 5:159,018,373...159,089,383
Ensembl chr 5:159,018,893...159,119,171 		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 chr11:61,531,386...61,584,634
Ensembl chr11:61,531,416...61,584,634 		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 chr13:83,578,730...83,680,330
Ensembl chr13:83,579,036...83,680,207 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 PMID:27479843 NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599 		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 chr10:27,973,694...28,193,072
Ensembl chr10:27,973,681...28,187,565 		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 chr19:37,338,399...37,370,438
Ensembl chr19:37,337,639...37,370,429 		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 9:61,066,170...61,134,963
Ensembl chr 9:61,066,175...61,134,963 		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 5:167,330,966...167,664,506
Ensembl chr 5:167,331,035...167,664,505 		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 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056 		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 chr20:27,283,383...27,308,069
Ensembl chr20:27,254,984...27,308,069 		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 4:178,062,267...179,031,991
Ensembl chr 4:178,066,165...178,441,547 		JBrowse link
G Spata6l spermatogenesis associated 6-like ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 1:247,037,004...247,088,124
Ensembl chr 1:247,046,650...247,088,012 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr16:49,465,958...49,484,975
Ensembl chr16:49,465,968...49,484,985 		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 chr13:88,521,625...88,536,728
Ensembl chr13:88,521,625...88,536,728 		JBrowse link
G Zfp30 ZFP30 zinc finger protein ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 1:87,558,762...87,569,381 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Neurodevelopmental Disorders 5563
        intellectual disability 3384
          Cerebral Visual Impairment and Intellectual Disability 18
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            disease of mental health 6921
              developmental disorder of mental health 4267
                specific developmental disorder 3531
                  intellectual disability 3384
                    Cerebral Visual Impairment and Intellectual Disability 18
paths to the root