Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.010 Biomarker disease BEFREE Bone marrow cells harboring the MLL-SACM1L rearrangement appeared during chemotherapy for acute lymphoblastic leukemia with hyperdiploidy and were continuously detected over 7 years without clonal expansion. 20553989 2010
Primary immunoglobulin A nephropathy (disorder)
0.010 Biomarker disease BEFREE DNA obtained from British Caucasoids with IgAN (N = 75), MN (N = 43), and normal controls (N = 73), was digested with the restriction enzyme Sac1, and studied using Southern blot techniques and hybridization with a 32P labelled DNA probe homologous to S mu. 1976141 1990
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA
0.010 Biomarker disease BEFREE Bone marrow cells harboring the MLL-SACM1L rearrangement appeared during chemotherapy for acute lymphoblastic leukemia with hyperdiploidy and were continuously detected over 7 years without clonal expansion. 20553989 2010
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 AlteredExpression phenotype BEFREE These results suggest that SAC1 expression and PI(4)P at the Golgi are important in tumor progression and metastasis and are potential prognostic markers of breast cancers. 27178239 2016
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 AlteredExpression phenotype BEFREE These results suggest that SAC1 expression and PI(4)P at the Golgi are important in tumor progression and metastasis and are potential prognostic markers of breast cancers. 27178239 2016
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.020 GeneticVariation group BEFREE Restriction fragment length polymorphism of the apolipoprotein AI gene, which encodes the most prominent apoproteins in high density lipoprotein (HDL), were investigated using the restriction enzymes Sac I and Pst I in white and black subjects to determine the potential role of genetic variations as stroke risks as determined by carotid stenosis and an atherogenic serum profile, such as elevated total cholesterol and low density lipoprotein (LDL) levels or reduced HDL levels. 8249016 1993
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.020 GeneticVariation group BEFREE Sac I polymorphic S2 allele frequency was higher in stroke-risk groups, whereas Pst I polymorphic P2 allele frequency was similar in control and stroke-risk groups. 1355620 1992
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.020 GeneticVariation group BEFREE The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. 23804563 2013
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.020 GeneticVariation group BEFREE While variants leading to early onset parkinsonism selectively abolish Sac1 function, our results provide evidence that a critical reduction of the dual phosphatase activity of SYNJ1 underlies a severe disorder with neonatal refractory epilepsy and a neurodegenerative disease course. 27435091 2016
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 GeneticVariation group BEFREE A restriction-fragment-length polymorphism (RFLP) detected with the human insulin-receptor cDNA and the enzyme Sac I has been reported to be associated with non-insulin-dependent diabetes mellitus (NIDDM) in White and Black populations and segregated with diabetes in two small pedigrees with maturity-onset diabetes of the young. 2566545 1989
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 GeneticVariation group BEFREE The Sac1 and -75G>A SNPs along with hypertension showed maximized correlations with TC, TG and Apo B by association analysis. 18801202 2008
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.010 GeneticVariation group BEFREE With the restriction endonuclease Sst 1 (or the isoschizomer; Sac I) a number of restriction fragment length polymorphisms (RFLP) can be obtained which are recognized by this probe and there is a highly significant association between certain of these and renal disease. 2880682 1986