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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:cataract 13 with adult i phenotype
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Accession:DOID:0110242 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24. (DO)
Synonyms:exact_synonym: ADULT i BLOOD GROUP WITH OR WITHOUT CONGENITAL CATARACT;   Adult i Blood Group with Congenital Cataract;   CTRCT13;   adult i blood group phenotype
 narrow_synonym: Adult i Blood Group without Congenital Cataract;   adult i phenotype without cataract
 related_synonym: I BLOOD GROUP SYSTEM
 primary_id: MESH:C566214
 alt_id: OMIM:110800;   OMIM:116700
For additional species annotation, visit the Alliance of Genome Resources.



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cataract 13 with adult i phenotype term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C17h6orf52 similar to human chromosome 6 open reading frame 52 ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr17:23,753,359...23,776,251
Ensembl chr17:23,762,746...23,776,245
JBrowse link
G Gcm2 glial cells missing transcription factor 2 ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr17:23,652,637...23,661,754
Ensembl chr17:23,652,637...23,661,754
JBrowse link
G Gcnt2 glucosaminyl (N-acetyl) transferase 2 ISO ClinVar Annotator: match by term: ADULT i BLOOD GROUP PHENOTYPE | ClinVar Annotator: match by term: Adult i blood group with or without congenital cataract | ClinVar Annotator: match by term: Cataract 13 with adult I phenotype | ClinVar Annotator: match by term: I blood group system OMIM
ClinVar
PMID:11739194 PMID:12424189 PMID:15161861 PMID:22935719 PMID:25457163 More... NCBI chr17:23,796,859...23,901,625
NCBI chr17:23,866,602...23,868,691
Ensembl chr17:23,796,859...23,901,611
JBrowse link
G Mak male germ cell-associated kinase ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr17:23,683,674...23,731,125
Ensembl chr17:23,693,878...23,730,001
JBrowse link
G Pak1ip1 PAK1 interacting protein 1 ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr17:23,742,217...23,753,325
Ensembl chr17:23,741,414...23,753,324
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
JBrowse link
G Tmem14c transmembrane protein 14C ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr17:23,733,769...23,739,906
Ensembl chr17:23,733,894...23,753,320
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    sensory system disease 6435
      eye disease 2964
        lens disease 313
          cataract 306
            cataract 13 with adult i phenotype 7
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13067
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11805
        genetic disease 11316
          monogenic disease 8884
            autosomal genetic disease 7927
              autosomal recessive disease 4933
                cataract 13 with adult i phenotype 7
paths to the root