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GENE - TERM ANNOTATION REPORT

RGD ID: 1316171
Species: Mus musculus
RGD Object: Gene
Symbol: Col4a1
Name: collagen, type IV, alpha 1
Acc ID: DOID:0050560
Term: Walker-Warburg syndrome
Definition: A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome "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)
Col4a1 IAGP 13592920MouseDOOMIM:236670 | OMIM:253280 
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