|
Degeneration of anterior horn cells
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Degeneration of the lateral corticospinal tracts
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Agitation, CTCAE 3.0
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Fatigable weakness of respiratory muscles
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Fatigable weakness of swallowing muscles
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Generalized Muscle Weakness, CTCAE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Agitation, CTCAE 5.0
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Spasticity, CTCAE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
"""Sporadic"" motoneuron disease due to familial SOD1 mutation with low penetrance."
|
7997024 |
1995 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
"""Sporadic"" motoneuron disease due to familial SOD1 mutation with low penetrance."
|
7997024 |
1995 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
"""True"" sporadic ALS associated with a novel SOD-1 mutation."
|
12402272 |
2002 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
"Hereditary motor neuron disease in a large Norwegian family with a ""H46R"" substitution in the superoxide dismutase 1 gene."
|
22475618 |
2012 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
"Understanding my ALS". Experiences and reflections of persons with amyotrophic lateral sclerosis and relatives on participation in peer group rehabilitation.
|
29373921 |
2019 |
|
Parkinson Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
<b>Abbreviations used:</b> COX-2: Cyclooxygenase-2; DA: Dopamine; DMC: Demethoxycurcumin; DMRT: Duncan's multiple range test; GSH: Reduced glutathione; GPx: Glutathione peroxidase; IL-1 β: Interleukin-1 β; IL-6: Interleukin-6; iNOS: Inducible nitric oxide synthase; PD: Parkinson's disease; SN: Substantia nigra; SOD: Superoxide dismutase; TBARS: Thiobarbituric acid reactive substances; TNF-α: Tumor necrosis factor-α.
|
29576695 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
<b>Abbreviations:</b> ALS: amyotrophic lateral sclerosis; CSF: cerebrospinal fluid; CERT: ceramide transfer protein; FFAT: two phenylalanines in an acidic tract; MSP: major sperm proteins; OSBP: oxysterol binding protein; PH: pleckstrin homology; PtdIns4P: phosphatidylinositol-4-phosphate; PtdIns4K: phosphatidylinositol 4-kinase; UPR: unfolded protein response; VAMP: vesicle-associated membrane protein; VAPA/B: mammalian VAPA and VAPB proteins; VAPs: VAMP-associated proteins (referring to <i>Drosophila</i> Vap33, and human VAPA and VAPB).
|
30741620 |
2019 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
<b>Background:</b> Pathogenic variants in ALS genes are known to be present in up to 70% of familial and 10% of apparently sporadic ALS cases, and can be associated with risks for ALS only, or risks for other neurodegenerative diseases (eg. frontotemporal dementia).
|
31702461 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
<b>Background:</b> Pathogenic variants in ALS genes are known to be present in up to 70% of familial and 10% of apparently sporadic ALS cases, and can be associated with risks for ALS only, or risks for other neurodegenerative diseases (eg. frontotemporal dementia).
|
31702461 |
2019 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
<b>Background:</b> Pathogenic variants in ALS genes are known to be present in up to 70% of familial and 10% of apparently sporadic ALS cases, and can be associated with risks for ALS only, or risks for other neurodegenerative diseases (eg. frontotemporal dementia).
|
31702461 |
2019 |
|
Pick Disease of the Brain
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
<b>Background:</b> Pathogenic variants in ALS genes are known to be present in up to 70% of familial and 10% of apparently sporadic ALS cases, and can be associated with risks for ALS only, or risks for other neurodegenerative diseases (eg. frontotemporal dementia).
|
31702461 |
2019 |
|
Frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
<b>Background:</b> Pathogenic variants in ALS genes are known to be present in up to 70% of familial and 10% of apparently sporadic ALS cases, and can be associated with risks for ALS only, or risks for other neurodegenerative diseases (eg. frontotemporal dementia).
|
31702461 |
2019 |
|
Lupus Erythematosus, Systemic
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
<b>Conclusion:</b> The results demonstrated a significant lower CAT and GSH levels and also revealed no significant difference for SOD and GPx levels in SLE patients.
|
31475863 |
2019 |
|
Presenile dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
<b>Methods:</b> Seven patients with Kii ALS/PDC (3 males and 4 females, average age 70.7 years, 3 with ALS, 2 with ALS with dementia, and 2 with PDC) were analyzed in this study.
|
29403345 |
2017 |
|
Dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
<b>Methods:</b> Seven patients with Kii ALS/PDC (3 males and 4 females, average age 70.7 years, 3 with ALS, 2 with ALS with dementia, and 2 with PDC) were analyzed in this study.
|
29403345 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
<i>In vivo</i> SOD1-G93A transgenic ALS mouse aggregate analysis of heat shock proteins (HSPs) revealed HSP levels are 30% lower in muscle than spine (<i>p</i> < 0.1).
|
29416499 |
2018 |
|
Skin Ulcer
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
<i>In vivo</i> experiments demonstrated that the expression of VEGF, total-SOD and EGF proteins were higher in the skin ulcer tissue of mice treated with CXCL-8 + HUVEC, relative to mice treated with HUVECs alone.
|
28587375 |
2017 |