Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912438
rs121912438
SOD1
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
dbSNP: rs1475170339
rs1475170339
IGFALS ; SPSB3
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
dbSNP: rs749191312
rs749191312
RBBP9
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
dbSNP: rs771884087
rs771884087
SLPI ; LOC105372630
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
dbSNP: rs121913223
rs121913223
DHFR
0.010 GeneticVariation BEFREE In conclusion, the homozygous DHFR mutation p.Asp153Val causes DHFR deficiency and leads to a complex hematological and neurological disease that can be successfully treated with folinic acid. 21310277

2011
dbSNP: rs1064039
rs1064039
CST3
0.010 GeneticVariation BEFREE Quantification of cystatin C in cerebrospinal fluid from various neurological disorders and correlation with G73A polymorphism in CST3. 20849835

2010
dbSNP: rs1457713736
rs1457713736
CTSB
0.010 GeneticVariation BEFREE Quantification of cystatin C in cerebrospinal fluid from various neurological disorders and correlation with G73A polymorphism in CST3. 20849835

2010
dbSNP: rs74315322
rs74315322
HAX1
0.010 GeneticVariation BEFREE All the three patients with Q190X mutations who were alive and available for evaluation developed neurological disease with decreased cognitive function, and three of four patients who reached 10 years developed epilepsy. 18513342

2008
dbSNP: rs80358261
rs80358261
NPC2
0.010 GeneticVariation BEFREE Mutation p.V39M, described in the homozygous state in two patients with an adult-onset neurological disease, resulted in the synthesis of apparently functional recombinant proteins correctly targeted to lysosomes. 15937921

2005
dbSNP: rs121918413
rs121918413
GLRA1 ; LOC112267935
0.010 GeneticVariation BEFREE The mutant allele GLRA1 (P250T) of the glycine receptor alpha1 subunit gene underlies a dominant form of the human neurological disorder, hyperekplexia. 12359314

2002
dbSNP: rs1467252662
rs1467252662
GLRA1 ; LOC112267935
0.010 GeneticVariation BEFREE The mutant allele GLRA1 (P250T) of the glycine receptor alpha1 subunit gene underlies a dominant form of the human neurological disorder, hyperekplexia. 12359314

2002
dbSNP: rs28933979
rs28933979
TTR
0.010 GeneticVariation BEFREE Of 8 family members, 5 were evaluated and found to be heterozygous for ATTR Val30Met; a family history found no relative with the similar neurologic disorders. 11709003

2001
dbSNP: rs1800014
rs1800014
PRNP
0.010 GeneticVariation BEFREE Familial history of neurologic disorders was evidenced for patients carrying the E196K and E211Q mutations. 10790216

2000
dbSNP: rs398122370
rs398122370
PRNP
0.010 GeneticVariation BEFREE Familial history of neurologic disorders was evidenced for patients carrying the E196K and E211Q mutations. 10790216

2000
dbSNP: rs1217691063
rs1217691063
MTHFR
0.010 GeneticVariation BEFREE We report the lack of megaloblastic anaemia in a patient with severe methionine synthase deficiency who is also homozygous for C677T in MTHFR, hypothesize that the MTHFR polymorphism protects the patient against anaemia and speculate that homozygosity for MTHFR C677T could cause the dissociation between haematological and neurological disease seen in some patients with vitamin B12 deficiency. 9453374

1997