Advanced search

Combine gene, variant, phenotype, region and year filters

Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.

Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
About your search

BRCA1 and leukemia are reported together in 3 articles.

Gene

BRCA1

HGNC
HGNC:1100
132articles
132mentions
5variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype

Leukemia

652articles
652mentions
12co-reported genes shown
Most co-reported genes (articles)

Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.

Publications

3 records shown · first 60
TypeEntitySource evidenceConfidenceExtractor
geneBRCA1“Our data showed that high ASXL1 mRNA is interrelated with increased BRCA1 associated protein-1 (BAP1) and its target gene E2F Transcription Factor 1 (E2F1) expression.”0.98hgnc_dict_v1
phenotypeleukemia“Gene Expression Analysis of Pediatric Acute Myeloid Leukemia Identified a Hyperactive ASXL1/BAP1 Axis Linked with Poor Prognosis and over Expressed Epigenetic Modifiers.”0.98phenotype_alias_lexicon_v2
geneASXL1“Gene Expression Analysis of Pediatric Acute Myeloid Leukemia Identified a Hyperactive ASXL1/BAP1 Axis Linked with Poor Prognosis and over Expressed Epigenetic Modifiers.”0.98hgnc_dict_v1
geneBAP1“Gene Expression Analysis of Pediatric Acute Myeloid Leukemia Identified a Hyperactive ASXL1/BAP1 Axis Linked with Poor Prognosis and over Expressed Epigenetic Modifiers.”0.98hgnc_dict_v1
TypeEntitySource evidenceConfidenceExtractor
geneBRCA1“Three patients with B-ALL had heterozygous pathogenic mutations in TP53, BRCA1, and BRCA2; one patient with B-ALL had homozygous pathogenic mutation in PMS2; and one patient with T-ALL had LP homozygous mutation in AK2 that was associated with reticular dysgenesis.”0.98hgnc_dict_v1
phenotypeleukemia“Frequency of pathogenic/likely pathogenic germline variants in cancer-related genes among children with acute leukemia in Saudi Arabia.”0.98phenotype_alias_lexicon_v2
geneTP53“Three patients with B-ALL had heterozygous pathogenic mutations in TP53, BRCA1, and BRCA2; one patient with B-ALL had homozygous pathogenic mutation in PMS2; and one patient with T-ALL had LP homozygous mutation in AK2 that was associated with reticular dysgenesis.”0.98hgnc_dict_v1
geneBRCA2“Three patients with B-ALL had heterozygous pathogenic mutations in TP53, BRCA1, and BRCA2; one patient with B-ALL had homozygous pathogenic mutation in PMS2; and one patient with T-ALL had LP homozygous mutation in AK2 that was associated with reticular dysgenesis.”0.98hgnc_dict_v1

Gene expression analysis approach to establish possible links between Parkinson's disease, cancer and cardiovascular diseases.

PMID 25345512 | DOI 10.2174/1871527313666141023122803 · CNS & neurological disorders drug targets · 2014 · 4 validated mentions
TypeEntitySource evidenceConfidenceExtractor
geneBRCA1“We integrated these data with known pathways using Ingenuity Pathway Analysis tool and found following common pathways associated with all three diseases to be most affected; epithelial adherens junction signaling, remodelling of epithelial adherens junctions, role of BRCA1 in DNA damage response, sphingomyelin metabolism, 3- phosphoinositide biosynthesis, acute myeloid leukemia signaling, type I diabetes mellitus signaling, agrin interactions at neuromuscular junction, role of IL-17A in arthritis, and antigen presentation pathways.”0.98hgnc_dict_v1
phenotypeleukemia“We integrated these data with known pathways using Ingenuity Pathway Analysis tool and found following common pathways associated with all three diseases to be most affected; epithelial adherens junction signaling, remodelling of epithelial adherens junctions, role of BRCA1 in DNA damage response, sphingomyelin metabolism, 3- phosphoinositide biosynthesis, acute myeloid leukemia signaling, type I diabetes mellitus signaling, agrin interactions at neuromuscular junction, role of IL-17A in arthritis, and antigen presentation pathways.”0.98phenotype_alias_lexicon_v2
phenotypeParkinson disease“Gene expression analysis approach to establish possible links between Parkinson's disease, cancer and cardiovascular diseases.”0.93phenotype_alias_lexicon_v2
phenotypediabetes mellitus“Cardiovascular diseases (CVD), cancer, diabetes and neurodegenerative diseases are collectively amounting to more than 60% of non-communicable disease burden across world.”0.93phenotype_alias_lexicon_v2