临床相关性：Pathogenic mechanism
A total of 18 records found
#21783
high Confidence
Subject:
GLUT2
(Glucose transporter)
→
mutations_cause
→
Object:
Fanconi-Bickel_syndrome
(Single gene disease)
Original: Fanconi-Bickel syndrome#is caused by#mutations in the GLUT2 (SLC2A2) gene
#21636
high Confidence
Subject:
NPM1c+_variant
(Protein coding gene mutants)
→
causes
→
Object:
cytoplasmic_accumulation_of_APE1
(Abnormal molecular localization)
Original: Expression of NPM1c+ variant#causes#cytoplasmic accumulation of APE1 in HeLa cells/ OCI/AML3 cells/ and primary lymphoblasts
#21635
high Confidence
Subject:
MYC
(Protein coding genes)
→
amplified_in
→
Object:
chromatin_remodeling_pathway
(signaling pathway)
Original: Mutations in ATM/ BRCA1/ BRCA2/ ARID1A/ DICER1/ SMAD4/ NOTCH1/ and MYC amplification#were identified in#DNA damage repair and chromatin remodeling pathways in CCAs
#21634
high Confidence
Subject:
NOTCH1
(Protein coding genes)
→
mutated_in
→
Object:
chromatin_remodeling_pathway
(signaling pathway)
Original: Mutations in ATM/ BRCA1/ BRCA2/ ARID1A/ DICER1/ SMAD4/ NOTCH1/ and MYC amplification#were identified in#DNA damage repair and chromatin remodeling pathways in CCAs
#21633
high Confidence
Subject:
SMAD4
(Protein coding genes)
→
mutated_in
→
Object:
chromatin_remodeling_pathway
(signaling pathway)
Original: Mutations in ATM/ BRCA1/ BRCA2/ ARID1A/ DICER1/ SMAD4/ NOTCH1/ and MYC amplification#were identified in#DNA damage repair and chromatin remodeling pathways in CCAs
#21632
high Confidence
Subject:
DICER1
(Protein coding genes)
→
mutated_in
→
Object:
chromatin_remodeling_pathway
(signaling pathway)
Original: Mutations in ATM/ BRCA1/ BRCA2/ ARID1A/ DICER1/ SMAD4/ NOTCH1/ and MYC amplification#were identified in#DNA damage repair and chromatin remodeling pathways in CCAs
#21631
high Confidence
Subject:
ARID1A
(Protein coding genes)
→
mutated_in
→
Object:
chromatin_remodeling_pathway
(signaling pathway)
Original: Mutations in ATM/ BRCA1/ BRCA2/ ARID1A/ DICER1/ SMAD4/ NOTCH1/ and MYC amplification#were identified in#DNA damage repair and chromatin remodeling pathways in CCAs
#21630
high Confidence
Subject:
BRCA2
(Protein coding genes)
→
mutated_in
→
Object:
DNA_damage_repair_pathway
(signaling pathway)
Original: Mutations in ATM/ BRCA1/ BRCA2/ ARID1A/ DICER1/ SMAD4/ NOTCH1/ and MYC amplification#were identified in#DNA damage repair and chromatin remodeling pathways in CCAs
#21629
high Confidence
Subject:
BRCA1
(Protein coding genes)
→
mutated_in
→
Object:
DNA_damage_repair_pathway
(signaling pathway)
Original: Mutations in ATM/ BRCA1/ BRCA2/ ARID1A/ DICER1/ SMAD4/ NOTCH1/ and MYC amplification#were identified in#DNA damage repair and chromatin remodeling pathways in CCAs
#21628
high Confidence
Subject:
ATM
(Protein coding genes)
→
mutated_in
→
Object:
DNA_damage_repair_pathway
(signaling pathway)
Original: Mutations in ATM/ BRCA1/ BRCA2/ ARID1A/ DICER1/ SMAD4/ NOTCH1/ and MYC amplification#were identified in#DNA damage repair and chromatin remodeling pathways in CCAs
#20511
high Confidence
Subject:
NPM1
(Protein coding genes)
→
is_mutated_in
→
Object:
NPM1c+_AML_cells
(Tumor cells)
Original: Cytoplasmic accumulation of APE1#is associated with#NPM1c+ AML and other cancers
#20085
high Confidence
Subject:
NPM1
(Protein coding genes)
→
is_associated_with
→
Object:
cytoplasmic_localization_in_AML
(Abnormal molecular localization)
Original: One-third of acute myeloid leukemias (AMLs)#are associated with#aberrant localization of NPM1 to the cytoplasm (NPM1c+)
#19147
middle Confidence
Subject:
NPM1
(Protein coding genes)
→
plays_role_in
→
Object:
BER_pathway
(DNA repair pathways)
Original: NPM1#has#indirect but significant role in BER and NPM1c+ tumorigenesis
#19146
middle Confidence
Subject:
APE1
(DNA repair enzymes)
→
accumulates_in
→
Object:
Cytoplasm
(Subcellular structure)
Original: Expression of NPM1c+ variant#causes#cytoplasmic accumulation of APE1 in HeLa cells/ OCI/AML3 cells/ and primary lymphoblasts
#19145
middle Confidence
Subject:
APE1
(DNA repair enzymes)
→
accumulates_in
→
Object:
NPM1c+_AML_cells
(Tumor cells)
Original: Cytoplasmic accumulation of APE1#is associated with#NPM1c+ AML and other cancers
#18824
middle Confidence
Subject:
EVT
(Tumor type)
→
is_associated_with
→
Object:
MTOR_mutation
(Gene mutation)
Original: EVT#is associated with#mutations in TSC1/ TSC2/ or MTOR
#18823
middle Confidence
Subject:
EVT
(Tumor type)
→
is_associated_with
→
Object:
TSC2_mutation
(Gene mutation)
Original: EVT#is associated with#mutations in TSC1/ TSC2/ or MTOR
#18822
middle Confidence
Subject:
EVT
(Tumor type)
→
is_associated_with
→
Object:
TSC1_mutation
(Gene mutation)
Original: EVT#is associated with#mutations in TSC1/ TSC2/ or MTOR