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GENE - TERM ANNOTATION REPORT

RGD ID: 1586167
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tmem67
Name: transmembrane protein 67
Acc ID: DOID:0111001
Term: Joubert syndrome 6
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17160906 "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)11072184RGDDNA:missense mutations, splice-site mutations: :multiple 
Tmem67 ISOTMEM67 (Homo sapiens)7240710OMIM  
Tmem67 ISOTMEM67 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Tmem67 ISOTMEM67 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Joubert syndrome 6PMID:10567047 PMID:12368986 PMID:16199547 PMID:16541367 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23351400 PMID:23559409 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27434533 PMID:27457812 PMID:27491411 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28508964 PMID:28680603 PMID:28719906 PMID:28771248 PMID:28973083 PMID:29127258 PMID:29146704 PMID:2929661 PMID:29568536 PMID:29891882 PMID:29974258 PMID:30055837 PMID:30455918 PMID:30476936 PMID:31019026 PMID:31319225 PMID:31589614 PMID:31738409 PMID:32000717 PMID:32404165 PMID:34006472 PMID:34645491 PMID:34675960 PMID:34964473 PMID:36305856 PMID:36617405 PMID:8862632 PMID:9375913 PMID:9536098
Tmem67 ISSTmem67 (Mus musculus)13592920MouseDOOMIM:610688 
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