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GENE - TERM ANNOTATION REPORT

RGD ID: 1614795
Species: Mus musculus
RGD Object: Gene
Symbol: Mks1
Name: MKS transition zone complex subunit 1
Acc ID: DOID:0110135
Term: Bardet-Biedl syndrome 13
Definition: A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/18327255 "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)
Mks1 ISOMKS1 (Homo sapiens)7240710OMIM  
Mks1 ISOMKS1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Mks1 ISOMKS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bardet-Biedl syndrome 13PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:18414213 PMID:19430481 PMID:19466712 PMID:20301500 PMID:21068128 PMID:21228398 PMID:21258341 PMID:23351400 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25363768 PMID:25741868 PMID:26092869 PMID:26490104 PMID:26862157 PMID:27353947 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28771248 PMID:28981474 PMID:29620724 PMID:30055837 PMID:30076350 PMID:30679815 PMID:30718709 PMID:30902645 PMID:31191208 PMID:31456290 PMID:31964843 PMID:33193692 PMID:33584783 PMID:34008892 PMID:34011629 PMID:34359301 PMID:34582790 PMID:35360848 PMID:35587316 PMID:9536098
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