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autosomal recessive nonsyndromic deafness 26 - Ontology Report - Rat Genome Database

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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:autosomal recessive nonsyndromic deafness 26
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Accession:DOID:0110484 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the GAB1 gene on chromosome 4q31. (DO)
Synonyms:exact_synonym: DFNB26;   autosomal recessive deafness 26
 primary_id: MESH:C565329;   RDO:0013999
 alt_id: MIM:605428

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autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Gab1 GRB2 associated binding protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26 OMIM
ClinVar		 PMID:11101839 PMID:25741868 PMID:29408807 NCBI chrNW_004624853:2,639,882...2,763,195
Ensembl chrNW_004624853:2,639,891...2,765,144 		JBrowse link
G G GAB1 GRB2 associated binding protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26 OMIM
ClinVar		 PMID:11101839 PMID:25741868 PMID:29408807 NCBI chr 7:90,197,374...90,323,024
Ensembl chr 7:90,197,620...90,322,077 		JBrowse link
G P GAB1 GRB2 associated binding protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26 OMIM
ClinVar		 PMID:11101839 PMID:25741868 PMID:29408807 NCBI chr 8:84,257,958...84,391,511
Ensembl chr 8:84,257,965...84,391,914 		JBrowse link
G S Gab1 GRB2 associated binding protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26 OMIM
ClinVar		 PMID:11101839 PMID:25741868 PMID:29408807 NCBI chrNW_004936535:4,934,743...5,048,698
Ensembl chrNW_004936535:4,932,261...5,048,693 		JBrowse link
G D GAB1 GRB2 associated binding protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26 OMIM
ClinVar		 PMID:11101839 PMID:25741868 PMID:29408807 NCBI chr19:10,269...117,808
Ensembl chr19:12,616...156,694 		JBrowse link
G B GAB1 GRB2 associated binding protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26 OMIM
ClinVar		 PMID:11101839 PMID:25741868 PMID:29408807 NCBI chr 4:135,697,939...135,834,755
Ensembl chr 4:146,996,936...147,133,672 		JBrowse link
G C Gab1 GRB2 associated binding protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26 OMIM
ClinVar		 PMID:11101839 PMID:25741868 PMID:29408807 NCBI chrNW_004955471:61,580...191,175
Ensembl chrNW_004955471:61,120...191,175 		JBrowse link
G R Gab1 GRB2-associated binding protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11101839 PMID:25741868 PMID:29408807 NCBI chr19:44,035,693...44,143,617
Ensembl chr19:27,131,262...27,239,236 		JBrowse link
G M Gab1 growth factor receptor bound protein 2-associated protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11101839 PMID:25741868 PMID:29408807 NCBI chr 8:81,491,060...81,607,151
Ensembl chr 8:81,491,063...81,607,148 		JBrowse link
G H GAB1 GRB2 associated binding protein 1 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 26
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11101839 PMID:25741868 PMID:29408807 NCBI chr 4:143,336,876...143,474,565
Ensembl chr 4:143,336,876...143,474,565 		JBrowse link
G H LOC126807172 MED14-independent group 3 enhancer GRCh37_chr4:144358834-144360033 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 26 ClinVar NCBI chr 4:143,437,681...143,438,880 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      Hearing Disorders 8892
        Hearing Loss 8838
          sensorineural hearing loss 6611
            autosomal recessive nonsyndromic deafness 1517
              autosomal recessive nonsyndromic deafness 26 11
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            Otorhinolaryngologic Diseases 19638
              auditory system disease 11215
                Hearing Disorders 8892
                  Hearing Loss 8838
                    Deafness 4116
                      nonsyndromic deafness 2338
                        autosomal recessive nonsyndromic deafness 1517
                          autosomal recessive nonsyndromic deafness 26 11
paths to the root