Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004096
Disease: Asthma
Asthma
0.010 Biomarker disease BEFREE <b>Conclusions:</b> These study findings showed that a falls rate increase and bilateral foot dorsal flexion limitations of the ankle and 1<sup>st</sup>MTTP joints are exhibited in patients who suffer from asthma. 31171913 2019
CUI: C0004626
Disease: Pneumonia, Bacterial
Pneumonia, Bacterial
0.010 Biomarker group BEFREE ABL kinase inhibition promotes lung regeneration through expansion of an SCGB1A1+ SPC+ cell population following bacterial pneumonia. 30655340 2019
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
0.010 Biomarker group BEFREE MTTP-AS1-Long is mainly in the liver and is in the cytoplasm of human hepatoma cells.MTTP-AS1-Short is in the testis. 31353085 2019
CUI: C0041956
Disease: Ureteral obstruction
Ureteral obstruction
0.010 AlteredExpression phenotype BEFREE 5-MTP levels decrease with progression of CKD, and in mouse kidneys after unilateral ureteral obstruction (UUO). 30931940 2019
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.010 AlteredExpression group BEFREE TPC were also found to suppress the expression levels of PPARα, CPT1 and ACOX, elevate the expression level of MTP and cause the disorder of lipid metabolism. 30709407 2019
Metastatic malignant neoplasm to brain
0.010 Biomarker disease BEFREE These findings suggest that ABL and AXL inhibitors might be effective against brain metastases. 31825826 2019
CUI: C0235989
Disease: Renal interstitial fibrosis
Renal interstitial fibrosis
0.010 Biomarker disease BEFREE Treatment with 5-MTP ameliorates renal interstitial fibrosis, inhibits IκB/NF-κB signaling, and enhances Keap1/Nrf2 signaling in mice with UUO or ischemia/reperfusion injury, as well as in cultured human kidney cells. 30931940 2019
CUI: C0265950
Disease: Venous malformation
Venous malformation
0.010 GeneticVariation disease BEFREE Combination treatment with the ABL kinase inhibitor ponatinib and rapamycin caused VM regression in a xenograft model based on injection of HUVEC-TIE2-L914F. 30626204 2019
Precursor B-cell lymphoblastic leukemia
0.010 Biomarker disease BEFREE Relapses and treatment-related events contributed equally to poor prognosis in children with ABL-class fusion positive B-cell acute lymphoblastic leukemia treated according to AIEOP-BFM protocols. 31601692 2019
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis
0.010 Biomarker phenotype BEFREE Treatment with 5-MTP ameliorates renal interstitial fibrosis, inhibits IκB/NF-κB signaling, and enhances Keap1/Nrf2 signaling in mice with UUO or ischemia/reperfusion injury, as well as in cultured human kidney cells. 30931940 2019
CUI: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein
0.010 GeneticVariation group BEFREE Combination treatment with the ABL kinase inhibitor ponatinib and rapamycin caused VM regression in a xenograft model based on injection of HUVEC-TIE2-L914F. 30626204 2019
CUI: C0002792
Disease: anaphylaxis
anaphylaxis
0.010 Biomarker phenotype BEFREE Treatment of mice with a history of food-induced anaphylaxis with the ABL kinase inhibitor imatinib protected the mice from severe IgE-mediated anaphylaxis. 29157947 2018
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
0.010 Biomarker group BEFREE Two patients with LCHAD/MTP deficiencies died due to severe cardiomyopathy in the neonatal period, and developmental disability was noted in CPT1A deficiency (1 patient). 29519241 2018
CUI: C0018099
Disease: Gout
Gout
0.010 Biomarker disease BEFREE To compare ultrasound-detected abnormalities, namely double contour sign (DCS) and hyperechoic aggregates (HAGs), at two sites (knee and first metatarsophalangeal [1st MTP] joints) versus six sites (knee joint, 1st MTP joint, radiocarpal joint, talar joint, patellar tendon and triceps tendon) in gout patients. 29210196 2018
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis
0.010 AlteredExpression disease BEFREE Subgroup analysis further revealed a significantly higher 5-MTP level during the active stage of LN (1.127 ± 0.149 vs. 0.742 ± 0.092, P = 0.0384). 30630711 2018
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
0.010 GeneticVariation group BEFREE This study aimed to determine whether FABP2 (Ala54Thr) and MTTP (-493 G/T) genetic polymorphisms are associated with metabolic disorders in Mexican subjects. 29338565 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 Biomarker disease BEFREE Statistical analysis showed: a significant reduction in MPR and MSPL in PD subjects compared to the healthy ones; a significant positive correlation between VHI score and MSPL, MPR, MPP, MESGP and a significant negative correlation between VHI and MTP within PD subjects. 29687184 2018
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
0.010 Biomarker group BEFREE A Study Investigating the Safety, Tolerability, and Efficacy of MTP-131 for the Treatment of Mitochondrial Myopathy (MMPOWER) was a phase I/II multicenter, randomized, double-blind, placebo-controlled trial of elamipretide in 36 participants with genetically confirmed PMM. 29500292 2018
CUI: C0685898
Disease: Food anaphylaxis
Food anaphylaxis
0.010 GeneticVariation disease BEFREE Treatment of mice with a history of food-induced anaphylaxis with the ABL kinase inhibitor imatinib protected the mice from severe IgE-mediated anaphylaxis. 29157947 2018
CUI: C0860040
Disease: BCG infection
BCG infection
0.010 AlteredExpression disease BEFREE Besides CD1d, the expression of other important molecules that participate in lipid antigen presentation pathway (i.e. microsomal triglyceride transfer protein (MTTP), scavenger receptor B1 (SR-B1) and Saposin) was also significantly upregulated in PLE and BAL cells upon BCG infection. 30596774 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.010 PosttranslationalModification group BEFREE (2018) show that HER2 signaling promotes ABL-mediated phosphorylation of the mitochondrial creatine kinase (MtCK1), providing ATP to support breast tumor growth. 30517893 2018
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
0.010 GeneticVariation disease BEFREE The Abelson murine leukaemia (ABL) gene at 9q34 was targeted in this study as 9q34 is a common region of loss in NPC. 29914565 2018
Very long chain acyl-CoA dehydrogenase deficiency
0.010 Biomarker disease BEFREE In 8 patients with symptomatic presentation, FAODs manifested as LCHAD/MTP deficiencies by recurrent rhabdomyolysis or cadiomyopathy (6 patients), and VLCAD deficiency by cardiomyopathy (1 patient), and CPT1A deficiency by hepatic failure (1 patient). 29519241 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.010 Biomarker group BEFREE Our data support a model wherein ER-stressed β cells contribute to their own demise during T1D pathogenesis and implicate the ABL-IRE1α axis as a drug target for the treatment of an autoimmune disease. 28380378 2017
Diabetes Mellitus, Insulin-Dependent
0.010 Biomarker disease BEFREE Our data support a model wherein ER-stressed β cells contribute to their own demise during T1D pathogenesis and implicate the ABL-IRE1α axis as a drug target for the treatment of an autoimmune disease. 28380378 2017