Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		0.100 Biomarker phenotype HPO
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.010 Biomarker group BEFREE Virus infection induced acute lymphoblastic leukemia (ALL) in p210BCR/ABL Tg with a higher frequency and in a shorter latency than wild-type littermates, and inverse PCR detected two retrovirus common integration sites (CISs) in p210BCR/ABL Tg tumors. 18193087 2008
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
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: 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
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: C0178874
Disease: Tumor Progression
Tumor Progression 		0.020 GeneticVariation phenotype BEFREE CHMFL-ABL-039 has demonstrated greater efficacies than Imatinib regarding to the anti-proliferation, inhibition of the signaling pathway, arrest of cell cycle progression, induction of apoptosis in vitro and suppression of the tumor progression in vivo in the native and V299L mutated BCR-ABL kinase-driven cells/xenograft models. 30894066 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.020 Biomarker phenotype BEFREE Our findings provide insight into the crucial role of HIOMT298 in 5-MTP production in cells and in inhibiting cancer progression and highlight the potential therapeutic value of 5-MTP for managing cancer. 29794137 2018
CUI: C0333516
Disease: Tumor necrosis
Tumor necrosis 		0.010 AlteredExpression phenotype BEFREE LPS, interleukin-1 (IL-1), and to a lesser extent tumor necrosis factor (TNF) significantly decreased MTP mRNA levels in hamster liver.These effects required several hours. 9643353 1998
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.040 Biomarker phenotype BEFREE Here, we show that the ABL kinase inhibitors imatinib, nilotinib, and GNF-5 impede invadopodium precursor formation and cortactin-phosphorylation dependent invadopodium maturation, leading to decreased actin polymerization in invadopodia, reduced extracellular matrix degradation, and impaired matrix proteolysis-dependent invasion. 29774130 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.040 Biomarker phenotype BEFREE Our findings identify ABL as a crucial player for migration, invasion, proliferation, tumorigenic, and stem-cell like properties of GBM cells. 27732969 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.040 Biomarker phenotype BEFREE 5-MTP blocks cancer cell migration and invasion in vitro and inhibits tumor growth and cancer metastasis in a xenograft model. 24589238 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.040 Biomarker phenotype BEFREE WASF3 phosphorylation by ABL kinase is essential for its ability to regulate invasion. 22315230 2012
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: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		0.010 Biomarker disease BEFREE A 5.4-Mb continuous pulsed-field gel electrophoresis map of human 9q34.1 between ABL and D9S114, including the tuberous sclerosis (TSC1) region. 7590733 1995
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 Biomarker disease BEFREE A 5.4-Mb continuous pulsed-field gel electrophoresis map of human 9q34.1 between ABL and D9S114, including the tuberous sclerosis (TSC1) region. 7590733 1995
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 Biomarker disease BEFREE ABL tyrosine kinase inhibition variable effects on the invasive properties of different triple negative breast cancer cell lines. 25803821 2015
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 Biomarker disease BEFREE ABL tyrosine kinase inhibition variable effects on the invasive properties of different triple negative breast cancer cell lines. 25803821 2015
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.010 GeneticVariation disease BEFREE The patient was found to be homozygous for the MTP:G1528 C mutation (LCHAD-deficiency). 10789927 2000
CUI: C0221248
Disease: Tophus
Tophus 		0.010 GeneticVariation disease BEFREE The low SUA (SUA < 7 mg/dL) gout subgroup showed significantly higher occurrence of erosions (40%) and tophi (50%) in first MTP joints than the control group. 27529533 2017
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.400 Biomarker disease CTD_human This steatosis was associated with aberrant microsomal apolipoprotein (apo) B-100 and microsomal triglyceride transfer protein (MTP) content, hypotriglyceridemia, hypocholesterolemia and abnormalities in both circulating lipoprotein composition and size. 17303181 2007
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.400 AlteredExpression disease BEFREE Our results lead us to propose a new pathophysiological animal model for induction of viral-related steatosis whereby the core protein of HCV targets microsomal triglyceride transfer protein activity and modifies hepatic VLDL assembly and secretion. 11818366 2002
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.400 AlteredExpression disease BEFREE We conclude that 1) HFD leads to ApoB100/MTP suppression reducing export of lipids; 2) castration promotes progression to steatohepatitis through activation of the ER stress pathway and enhancement of macrovesicular droplet protein expression; and 3) testosterone suppresses ER stress, inhibits the formation of macrovesicular lipid droplets, promotes lipid export, and ameliorates steatohepatitis induced by HFD and castration. 28928235 2018
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.400 AlteredExpression disease BEFREE Reductions in microsomal triglyceride transfer protein mRNA and activity are related to steatosis in HCV-3 infected patients. 18460919 2008
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.400 GeneticVariation disease BEFREE In addition, mutations in apolipoprotein B and microsomal triglyceride transfer protein cause hepatic steatosis, in concordance with drugs that inhibit these targets. 26859812 2016