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GENE - TERM ANNOTATION REPORT

RGD ID: 736905
Species: Homo sapiens
RGD Object: Gene
Symbol: SLC26A1
Name: solute carrier family 26 member 1
Acc ID: DOID:0111389
Term: mucopolysaccharidosis Ih/s
Definition: A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10466419 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/2128891 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7550242 "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)
SLC26A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/SPMID:12203999 PMID:15862278 PMID:19839758 PMID:21394825 PMID:24036510 PMID:25741868 PMID:28492532 PMID:7951228 PMID:9427149 PMID:9748610
SLC26A1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/SPMID:25741868
SLC26A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/SPMID:21480867 PMID:25741868
SLC26A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/SPMID:12559846 PMID:14559116 PMID:21394825 PMID:22306676 PMID:24368159 PMID:25741868 PMID:27896125 PMID:28492532 PMID:7550242 PMID:8664897 PMID:9748610
SLC26A1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/SPMID:25741868 PMID:28492532
SLC26A1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S 
SLC26A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/SPMID:10215409 PMID:11159948 PMID:11735025 PMID:1301941 PMID:1505961 PMID:18796143 PMID:19396826 PMID:21394825 PMID:21480867 PMID:21831683 PMID:22976768 PMID:23786846 PMID:24033266 PMID:24314423 PMID:24368159 PMID:25741868 PMID:28492532 PMID:28752568 PMID:29393969 PMID:7951228 PMID:8401515 PMID:9427149 PMID:9787109
SLC26A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/SPMID:11735025 PMID:14559116 PMID:15862278 PMID:21462124 PMID:21480867 PMID:25741868 PMID:28492532 PMID:28752568 PMID:29282708 PMID:8213840 PMID:8664897 PMID:8680403
SLC26A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/SPMID:12509712 PMID:24053568 PMID:25741868 PMID:28492532
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