Statements (99)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:DNA
|
| gptkbp:associated_phenotype |
immunodeficiency
short stature photosensitivity premature aging increased infections |
| gptkbp:associated_with |
gptkb:Bloom_syndrome
gptkb:neurodegenerative_diseases metabolic disorders cardiovascular diseases chromosomal instability tumorigenesis genetic counseling developmental disorders cancer predisposition immunodeficiency inflammatory diseases fertility issues autoimmune disorders neoplasia hereditary cancer syndromes DNA replication stress therapeutic targets in oncology |
| gptkbp:clinical_trial |
diagnostic marker for Bloom syndrome
important for genomic stability |
| gptkbp:code |
gptkb:Bloom_syndrome_protein
gptkb:Anárion |
| gptkbp:discovered_by |
gptkb:Dr._Stephen_J._Elledge
gptkb:Dr._David_A._Bloom |
| gptkbp:diseases |
increased cancer risk
|
| gptkbp:disorder_associated |
genetic instability
|
| gptkbp:entrez_gene_id |
640
|
| gptkbp:function |
DNA helicase activity
maintaining genomic stability |
| gptkbp:gene_cards_id |
GC01 M001007
|
| gptkbp:genetic_studies |
rare
increased cancer risk point mutation causes genetic instability |
| https://www.w3.org/2000/01/rdf-schema#label |
BLM gene
|
| gptkbp:initiated_by |
targeted in cancer therapy
|
| gptkbp:interacts_with |
other DNA repair proteins
|
| gptkbp:involved_in |
DNA damage response
DNA repair cell cycle regulation chromosome segregation cellular response to stress epigenetic regulation cellular repair mechanisms telomere maintenance genomic surveillance |
| gptkbp:is_expressed_in |
varies in different tissues
various tissues high in proliferating cells |
| gptkbp:is_linked_to |
metabolic disorders
cellular senescence neurodevelopmental disorders premature aging autoimmune disorders chromosomal translocations biomarkers for disease environmental factors affecting gene expression |
| gptkbp:is_recognized_as |
1990s
in 1966 |
| gptkbp:is_studied_in |
genetic research
|
| gptkbp:located_in |
human chromosome 15
chromosome 15 |
| gptkbp:mutation_impact |
cellular senescence
chromosomal aberrations increased apoptosis telomere shortening reduced DNA repair efficiency |
| gptkbp:orthologs |
found in multiple species
|
| gptkbp:pathway |
DNA replication
involved in homologous recombination |
| gptkbp:polymorphisms |
associated with various phenotypes
|
| gptkbp:promoter |
gptkb:BLM
|
| gptkbp:ref_seq |
NM_000057.4
|
| gptkbp:related_to |
gptkb:Rec_Q_helicase_family
gptkb:Anárion |
| gptkbp:research |
studied in cancer biology
|
| gptkbp:research_areas |
gptkb:gene_therapy
DNA damage response cell cycle regulation personalized medicine cancer research genetic counseling pharmacogenomics genomic stability molecular genetics therapeutic targets clinical genetics telomere biology biomarker development chromosome dynamics helicase function |
| gptkbp:research_focus |
cancer genetics
|
| gptkbp:seed_dispersal |
protein-coding gene
|
| gptkbp:uni_prot_id |
P54003
|