临床相关性:Diagnosis/pathogenesis

A total of 4 records found

#21835 high Confidence
Subject: TP53 (Protein coding genes)
is_mutated_in
Object: ITAC (Tumor type)
Original: TP53#is mutated in#IM and ITAC cases (c.832C>T and c.215G>A)
🏥 Diagnosis/pathogenesis 🧬 TP53 📄 PMID: 25431194
#21834 high Confidence
Subject: TP53 (Protein coding genes)
is_mutated_in
Object: IM (Tumor type)
Original: TP53#is mutated in#IM and ITAC cases (c.832C>T and c.215G>A)
🏥 Diagnosis/pathogenesis 🧬 TP53 📄 PMID: 25431194
#20398 high Confidence
Subject: NPM1 (Protein coding genes)
mutated_in
Object: AML (disease)
Original: Mutations in NPM1#lead to#aberrant cytoplasmic localization in AML
🏥 Diagnosis/pathogenesis 🧬 NPM1 📄 PMID: 18625840
#20372 high Confidence
Subject: HRPT2_mutation (Gene mutation)
is_observed_in
Object: parathyroid_carcinoma (Tumor)
Original: HRPT2 mutations#are observed in#parathyroid carcinomas
🏥 Diagnosis/pathogenesis 🧬 HRPT2 📄 PMID: 21221636