Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.020 GeneticVariation disease BEFREE An intragenic Sac-1 polymorphic site was found in association with the specific FDH mutation, suggesting a founder effect. 12099390 2002
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.020 GeneticVariation disease BEFREE In every individual with FDH, the mutation was associated with the Sac I+ polymorphism in the albumin gene, strongly suggesting a founder effect. 8048949 1994
CUI: C0007282
Disease: Carotid Stenosis
Carotid Stenosis 		0.020 GeneticVariation disease BEFREE In white subjects, carotid artery stenosis was associated with significantly elevated total cholesterol and LDL levels (P < .01) but not with Sac I polymorphism. 8249016 1993
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.020 GeneticVariation disease BEFREE In black subjects, Sac I polymorphism appears to identify individuals with significant carotid stenosis, a necessary precursor to atherothrombotic brain infarction, but not those with elevated total cholesterol or LDL and/or reduced HDL levels. 8249016 1993
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: C0751955
Disease: Brain Infarction
Brain Infarction 		0.020 GeneticVariation disease BEFREE These results suggest that Sac I polymorphism may identify black subjects at increased risk for atherothrombotic brain infarctions. 8249016 1993
CUI: C0007282
Disease: Carotid Stenosis
Carotid Stenosis 		0.020 GeneticVariation disease BEFREE In white subjects, carotid artery stenosis was associated with significantly elevated total cholesterol and low density lipoprotein (p less than 0.01) but not with Sac I polymorphism. 1355620 1992
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.020 GeneticVariation disease BEFREE In white subjects, carotid artery stenosis was associated with significantly elevated total cholesterol and low density lipoprotein (p less than 0.01) but not with Sac I polymorphism. 1355620 1992
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: C0751955
Disease: Brain Infarction
Brain Infarction 		0.020 GeneticVariation disease BEFREE These results suggest that Sac I polymorphism may identify black subjects at increased risk for atherothrombotic brain infarctions. 1355620 1992
CUI: C0221106
Disease: Alkalemia
Alkalemia 		0.010 Biomarker disease BEFREE Furthermore, as increasing pH from 4 to 7, the Hg adsorption capacity of SAC1 decreased by 22% (i.e., 0.27 μg mg<sup>-1</sup>). 30384226 2019
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.010 Biomarker disease BEFREE OSBP and Sac1 co-localized at apparent ER-Golgi contact sites in response to 25-hydroxycholesterol (25OH), cholesterol depletion and p38 MAPK inhibitors. 28471037 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 AlteredExpression disease 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: 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: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.010 GeneticVariation disease BEFREE Autosomal recessive inherited variants in SYNJ1 have previously been associated with two different neurological diseases: a recurrent homozygous missense variant (p.Arg258Gln) that abolishes Sac1 phosphatase activity was identified in three independent families with early onset parkinsonism, whereas a homozygous nonsense variant (p.Arg136*) causing a severe decrease of mRNA transcript was found in a single patient with intractable epilepsy and tau pathology. 27435091 2016
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.010 GeneticVariation disease BEFREE The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. 23804563 2013
CUI: C0023418
Disease: leukemia
leukemia 		0.010 Biomarker disease BEFREE Here we report a case of a 3-year old boy bearing a novel MLL-rearrangement with the suppressor of actin mutations 1-like (SACM1L) gene in the absence of leukemia. 20553989 2010
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic 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: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 Biomarker disease BEFREE Here we report a case of a 3-year old boy bearing a novel MLL-rearrangement with the suppressor of actin mutations 1-like (SACM1L) gene in the absence of leukemia. 20553989 2010
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
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
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: 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