Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779591039
rs779591039
Entrez Id: 6590;105372630
Gene Symbol: SLPI;LOC105372630
SLPI;LOC105372630
CUI: C1332986
Disease:
Childhood Osteosarcoma
0.010 GeneticVariation BEFREE Plasmids created for mutants 1 c.110T>C (L37P), 2 c.532T>C (Y178H) and 3 c.715G>T (D239Y) using in vitro mutagenesis were transfected into human osteosarcoma (U<sub>2</sub>OS) cells and compared to wildtype (WT) and mock cDNA. 31146036 2019
dbSNP: rs779591039
rs779591039
Entrez Id: 6590;105372630
Gene Symbol: SLPI;LOC105372630
SLPI;LOC105372630
CUI: C0029463
Disease:
Osteosarcoma
0.010 GeneticVariation BEFREE Plasmids created for mutants 1 c.110T>C (L37P), 2 c.532T>C (Y178H) and 3 c.715G>T (D239Y) using in vitro mutagenesis were transfected into human osteosarcoma (U<sub>2</sub>OS) cells and compared to wildtype (WT) and mock cDNA. 31146036 2019
dbSNP: rs779591039
rs779591039
Entrez Id: 6590;105372630
Gene Symbol: SLPI;LOC105372630
SLPI;LOC105372630
CUI: C0585442
Disease:
Osteosarcoma of bone
0.010 GeneticVariation BEFREE Plasmids created for mutants 1 c.110T>C (L37P), 2 c.532T>C (Y178H) and 3 c.715G>T (D239Y) using in vitro mutagenesis were transfected into human osteosarcoma (U<sub>2</sub>OS) cells and compared to wildtype (WT) and mock cDNA. 31146036 2019
dbSNP: rs771884087
rs771884087
Entrez Id: 6590;105372630
Gene Symbol: SLPI;LOC105372630
SLPI;LOC105372630
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.010 GeneticVariation BEFREE Moreover, these results may pave the path for using the mSOD1(G93A) mouse model and these biomarkers as molecular beacons to evaluate the effects of novel drugs/treatments in ALS. 23836781 2013
dbSNP: rs771884087
rs771884087
Entrez Id: 6590;105372630
Gene Symbol: SLPI;LOC105372630
SLPI;LOC105372630
CUI: C0027765
Disease:
nervous system disorder
0.010 GeneticVariation BEFREE Quantitative real-time PCR analysis of brain, spinal cord and muscle tissues of the mSOD1(G93A) and controls at various time points during the progression of the neurological disease showed differential expression of the four identified biomarkers in correlation with (i) the tissue type, (ii) the stage of the disease and (iii) the gender of the animals, creating thus a novel spatiotemporal molecular signature of ALS. 23836781 2013