VHL gene mutation

GPTKB entity

Statements (76)
Predicate Object
gptkbp:instance_of gptkb:physicist
gptkbp:bfsLayer 6
gptkbp:bfsParent gptkb:Renal_cell_carcinoma
gptkbp:affects VHL protein function
gptkbp:analyzes molecular biology
risk assessment
therapeutic strategies
pharmacogenomics
gene therapy approaches
gptkbp:associated_with gptkb:Von_Hippel-Lindau_disease
gptkbp:can_be surgical complications
diagnostic challenges
psychosocial impacts
adrenal tumors
gptkbp:can_lead_to gptkb:hemangioblastomas
systemic complications
central nervous system tumors
neuroendocrine tumors
quality of life concerns
pancreatic cysts
gptkbp:caused_by tumor formation
retinal tumors
gptkbp:descendant autosomal dominant inheritance
gptkbp:examines patient registries
longitudinal studies
clinical management
oncology research
pathology studies
https://www.w3.org/2000/01/rdf-schema#label VHL gene mutation
gptkbp:investment gptkb:healthcare_organization
gptkbp:involves chromosome 3p25.3
gptkbp:is_analyzed_in genomic studies
clinical significance
mutation spectrum
gptkbp:is_associated_with clinical outcomes
increased surveillance
multidisciplinary care
survivorship issues
vascular tumors
multiple tumors
early onset of symptoms
metabolic dysregulation
gptkbp:is_characterized_by loss of function
gptkbp:is_considered healthcare policies
genetic counseling
treatment planning
patient prognosis
gptkbp:is_considered_as a hereditary condition
gptkbp:is_linked_to gptkb:pheochromocytomas
genetic diversity
tumor heterogeneity
tumor microenvironment
tumor suppressor genes
cellular signaling pathways
endocrine tumors
patient education.
cystic lesions
gptkbp:is_monitored_by gptkb:Photographer
gptkbp:is_often_used_in certain populations
gptkbp:is_part_of cancer research initiatives
cancer genetics
hereditary cancer syndromes
cancer prevention efforts
cancer predisposition syndromes
VHL syndrome
gptkbp:is_recognized_by DNA sequencing
gptkbp:is_related_to angiogenesis
hypoxia-inducible factors
gptkbp:is_studied_in biomarker discovery
epidemiological studies
translational research
therapeutic targets
clinical genetics
gptkbp:is_subject_to clinical trials
gptkbp:recognizes genetic testing
gptkbp:treatment surgical intervention