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GENE - TERM ANNOTATION REPORT

RGD ID: 11975770
Species: Pan paniscus
RGD Object: Gene
Symbol: TMEM67
Name: transmembrane protein 67
Acc ID: DOID:0111112
Term: nephronophthisis 1
Definition: A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9326933 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9361039 "DO" "DO"
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)
TMEM67 ISOTMEM67 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: juvenile nephronophthisisPMID:17160906 PMID:18327255 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:22700954 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28289063 PMID:28492532
TMEM67 ISOTMEM67 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisisPMID:17160906 PMID:18327255 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28289063 PMID:28492532
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