Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 Biomarker group BEFREE By contrast MAP3K15 (ASK3) may protect from hypertension and BRAF inhibitors in clinical use may induced acute kidney injury and nephrotic syndrome. 31196660 2020
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
0.010 Biomarker disease BEFREE By contrast MAP3K15 (ASK3) may protect from hypertension and BRAF inhibitors in clinical use may induced acute kidney injury and nephrotic syndrome. 31196660 2020
CUI: C0037285
Disease: Skin Manifestations
Skin Manifestations
0.010 GeneticVariation phenotype BEFREE Patients from this cohort were screened for cutaneous manifestations, and BRAF c.1799T>A (p.V600E) mutational analysis was conducted in novel skin manifestations. 31120137 2020
CUI: C0269106
Disease: Endosalpingiosis
Endosalpingiosis
0.010 GeneticVariation disease BEFREE The proliferative activity as assessed by Ki-67 immunohistochemistry was lower in endosalpingiosis than in low-grade serous tumours, and endosalpingiosis with either a BRAF or KRAS mutation had a significantly lower Ki-67 index than those without. 31576556 2020
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.010 Biomarker disease BEFREE Patients with pancreatic adenocarcinoma and BRAF-mutant colorectal cancer (CRC) were enrolled in the expansion stage. 31848189 2020
CUI: C0936282
Disease: Blastoma
Blastoma
0.010 GeneticVariation disease BEFREE Screening of RAS (Kirsten rat sarcoma viral oncogene homolog (KRAS), neuro-blastoma RAS viral oncogene homolog (NRAS), and v-raf murine sarcoma viral oncogene homolog B1 (BRAF)) somatic mutations is necessary prior to considering anti-epidermal growth factor receptor (EGFR) therapies in CRC patients. 31475312 2020
CUI: C1541317
Disease: Adult Gliosarcoma
Adult Gliosarcoma
0.010 GeneticVariation disease BEFREE The coexistence of gliosarcoma and arteriovenous malformation with the BRAF V600E mutation: case report. 31759151 2020
CUI: C3697936
Disease: Sialadenoma papilliferum
Sialadenoma papilliferum
0.010 GeneticVariation disease BEFREE BRAF V600E and AKT1 E17K in SP and IPMN) would be useful for the correct diagnosis of minor salivary gland papillary-cystic tumours. 31505033 2020
CUI: C3899658
Disease: Childhood Gliosarcoma
Childhood Gliosarcoma
0.010 GeneticVariation disease BEFREE The coexistence of gliosarcoma and arteriovenous malformation with the BRAF V600E mutation: case report. 31759151 2020
CUI: C0002792
Disease: anaphylaxis
anaphylaxis
0.010 Biomarker phenotype BEFREE We report a case of anaphylactic reaction to the BRAF inhibitor dabrafenib administered as a first-line treatment. 30383722 2019
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
0.010 GeneticVariation group BEFREE Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder that is phenotypically similar to Noonan syndrome and is associated with mutations in BRAF, MEK1, MEK2, and KRAS. 31125963 2019
Disseminated Intravascular Coagulation
0.010 Biomarker disease BEFREE Herein, we describe the first case of disseminated intravascular coagulation occurring in BRAF and NRAS-mutant metastatic melanoma, and systematically review the literature regarding disseminated intravascular coagulation in melanoma. 31095038 2019
CUI: C0014474
Disease: Ependymoma
Ependymoma
0.010 GeneticVariation disease BEFREE The p.Val600Glu was found in 14/75 grade II GG.No EP were BRAF mutated. 31673897 2019
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency
0.010 GeneticVariation disease BEFREE We report on a 3-year-old child with recurrent, metastatic (bone) BRAF mutation-positive melanoma.He also had severe factor X deficiency. 30376464 2019
CUI: C0017416
Disease: Genital Neoplasms, Female
Genital Neoplasms, Female
0.010 GeneticVariation group BEFREE Papilloma of the Fallopian Tube: A Rare Gynecologic Neoplasm Harboring a BRAF (c.1799T>A) Mutation (V600E). 29851866 2019
CUI: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI
0.010 GeneticVariation disease BEFREE Mutation of BRAF (V600E) was reported by 1st NGS and oral vemurafenib stabilized her disease for 6 months. 30462564 2019
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms
0.010 GeneticVariation group BEFREE <b>Background:</b> Ameloblastoma is a rare head and neck tumor characterized by a high incidence of BRAF mutation providing a rationale for the use of BRAF inhibitors in patients with advanced disease. 31781502 2019
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.010 GeneticVariation disease BEFREE A total thyroidectomy with bilateral lymph node dissection was performed and the microscopic examination revealed a 2-cm PTC with BRAF mutation and HL (mixed cellularity) in the bilateral lymph nodes. 30653166 2019
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
0.010 Biomarker phenotype BEFREE Our hypothesis is that BRAF/MEK inhibitors lead to hyponatremia and water retention (so-called dilution hyponatremia) by activating aquaporin 2 (AQP2) trafficking from its intracellular compartment to the luminal cell membrane, and by activating ENaC channel. 30387922 2019
CUI: C0029166
Disease: Oral Manifestations
Oral Manifestations
0.010 Biomarker phenotype BEFREE We report on a rare case of its primary oral manifestation that was treated successfully with the BRAF-specific agent, vemurafenib, after insufficient standard LCH treatment. 31666812 2019
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.010 GeneticVariation disease BEFREE Absence of BRAF mutation in pheochromocytoma and paraganglioma. 28043156 2019
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.010 GeneticVariation disease BEFREE Cancer-targeted therapies such as BRAF or MEK inhibitors were associated with sarcoidosis reactions in 37 cases. 31612562 2019
Ki-1+ Anaplastic Large Cell Lymphoma
0.010 GeneticVariation disease BEFREE An Immune Suppression-associated EBV-positive Anaplastic Large Cell Lymphoma With a BRAF V600E Mutation. 30320628 2019
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma
0.010 GeneticVariation disease BEFREE A total thyroidectomy with bilateral lymph node dissection was performed and the microscopic examination revealed a 2-cm PTC with BRAF mutation and HL (mixed cellularity) in the bilateral lymph nodes. 30653166 2019
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma
0.010 GeneticVariation disease BEFREE A total thyroidectomy with bilateral lymph node dissection was performed and the microscopic examination revealed a 2-cm PTC with BRAF mutation and HL (mixed cellularity) in the bilateral lymph nodes. 30653166 2019