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GENE - TERM ANNOTATION REPORT

RGD ID: 1601858
Species: Homo sapiens
RGD Object: Gene
Symbol: CSGALNACT1
Name: chondroitin sulfate N-acetylgalactosaminyltransferase 1
Acc ID: DOID:9008465
Term: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
Definition: A disease characterized by mild skeletal dysplasia, joint hypermobility, and advanced bone age. Shortness of long bones is evident prenatally, and patients exhibit short stature and relative macrocephaly.
Definition Source(s): OMIM:618870
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)
CSGALNACT1 IAGP 7240710OMIM  
CSGALNACT1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone agePMID:25741868 PMID:28492532
CSGALNACT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone agePMID:25741868
CSGALNACT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone agePMID:27599773 PMID:31705726
CSGALNACT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone agePMID:25741868 PMID:27599773 PMID:28492532
CSGALNACT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone agePMID:31325655
CSGALNACT1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone agePMID:25741868 PMID:31705726
CSGALNACT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age 
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