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GENE - TERM ANNOTATION REPORT

RGD ID: 11943659
Species: Pan paniscus
RGD Object: Gene
Symbol: SMARCAL1
Name: SNF2 related chromatin remodeling annealing helicase 1
Acc ID: DOID:0060490
Term: Schimke immuno-osseous dysplasia
Definition: A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia "DO" "DO", http://www.ncbi.nlm.nih.gov/books/NBK1376/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/10653321 "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)
SMARCAL1 ISOSMARCAL1 (Homo sapiens)7240710OMIM  
SMARCAL1 ISOSMARCAL1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Schimke immuno-osseous dysplasiaPMID:11799392 PMID:12471207 PMID:15523612 PMID:15880370 PMID:15884045 PMID:16199547 PMID:16237566 PMID:16840568 PMID:17089404 PMID:17576681 PMID:18805831 PMID:18974355 PMID:19127206 PMID:19793864 PMID:20179009 PMID:20301550 PMID:21914180 PMID:22998683 PMID:23359635 PMID:23671665 PMID:24197801 PMID:24589093 PMID:25349199 PMID:25428399 PMID:25640679 PMID:25741868 PMID:25748404 PMID:25943327 PMID:26089390 PMID:26195148 PMID:26499378 PMID:26633542 PMID:27577878 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28796785 PMID:28844315 PMID:29127259 PMID:29282041 PMID:29802247 PMID:30026777 PMID:30295827 PMID:30586318 PMID:30635151 PMID:30687093 PMID:30784191 PMID:31039288 PMID:31275356 PMID:32393263 PMID:32499645 PMID:32604935 PMID:33203071 PMID:33532864 PMID:9536098
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