Preferred Label : PRKAR1A Gene Inactivation;
NCIt synonyms : PRKAR1A Loss of Function Gene Mutation; PRKAR1A Loss of Function Mutation; Inactivating Protein Kinase cAMP-Dependent Type I Regulatory Subunit Alpha Gene Mutation; Inactivating PRKAR1 Gene Mutation; Inactivating PKR1 Gene Mutation; Loss of Function PRKAR1A Mutation; PRKAR1A Inactivating Mutation; PRKAR1A Inactivating Gene Mutation; Loss of Function PRKAR1A Gene Mutation; Inactivating TSE1 Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the PRKAR1A gene that inhibits expression or
results in the translation of either low-activity or inactive forms of cAMP-dependent
protein kinase type I-alpha regulatory subunit protein, which leads to deregulation
of protein kinase A-mediated signaling pathways.;
NCI Metathesaurus CUI : CL1926611;
Origin ID : C204572;
UMLS CUI : C5909821;
Semantic type(s)
is_molecular_abnormality_of_disease
molecular_abnormality_involves_gene