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GENE - TERM ANNOTATION REPORT

RGD ID: 12550347
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Pdzd7
Name: PDZ domain containing 7
Acc ID: DOID:0111635
Term: autosomal recessive nonsyndromic deafness 57
Definition: An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in PDZD7 on chromosome 10q24.31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/29048736
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Pdzd7 ISORGD:13204657240710OMIM  
Pdzd7 ISSRGD:13204659068941OMIM  
Pdzd7 ISSRGD:13204659068941ClinVarClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 57

PMID:20440071, PMID:24033266, PMID:26849169
Pdzd7 ISSRGD:13204659068941ClinVarClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 57

PMID:20440071, PMID:26849169
Pdzd7 ISSRGD:13204659068941ClinVarClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 57

PMID:20440071, PMID:29048736
Pdzd7 ISSRGD:13204659068941ClinVarClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 57

PMID:25741868, PMID:26416264
Pdzd7 ISSRGD:13204659068941ClinVarClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 57

PMID:25741868, PMID:29048736
Pdzd7 ISSRGD:13204659068941ClinVarClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 57

PMID:26416264
Pdzd7 ISSRGD:13204659068941ClinVarClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 57

PMID:29048736
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.