Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		0.700 CausalMutation disease CLINVAR
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.110 Biomarker disease HPO
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.110 Biomarker group HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0233762
Disease: Hallucinations, Auditory
Hallucinations, Auditory 		0.100 Biomarker phenotype HPO
CUI: C0233763
Disease: Hallucinations, Visual
Hallucinations, Visual 		0.100 Biomarker phenotype HPO
CUI: C0497327
Disease: Dementia
Dementia 		0.100 Biomarker disease HPO
CUI: C1836851
Disease: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 		0.100 Biomarker phenotype HPO
CUI: C1836852
Disease: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material 		0.100 Biomarker phenotype HPO
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		0.100 Biomarker phenotype HPO
CUI: C1850447
Disease: Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material 		0.100 Biomarker phenotype HPO
CUI: C1859833
Disease: Granular osmiophilic deposits (GROD) in cells
Granular osmiophilic deposits (GROD) in cells 		0.100 Biomarker phenotype HPO
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		0.100 Biomarker group HPO
CUI: C4025728
Disease: Increased neuronal autofluorescent lipopigment
Increased neuronal autofluorescent lipopigment 		0.100 Biomarker phenotype HPO
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		0.180 Biomarker disease BEFREE 14 different genes have been linked to NCLs (CLN1-CLN14), but the functions of the proteins encoded by the majority of these genes have not been fully elucidated. 28442266 2017
CUI: C4284284
Disease: Neuronal Ceroid Lipofuscinosis Type 4B
Neuronal Ceroid Lipofuscinosis Type 4B 		0.320 Biomarker disease BEFREE DNAJC5, which encodes the cysteine string protein (CSPα), a presynaptic protein implicated in neurodegeneration, causes autosomal dominant Kufs disease. 22978711 2013
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 Biomarker disease BEFREE CSP-AU1 treatment of mice with EAE (50 mg/kg, i.p., daily, 13 days) resulted in significantly reduced disease severity in this experimental model of multiple sclerosis. 23806004 2013
CUI: C0687132
Disease: heavy drinking
heavy drinking 		0.010 GeneticVariation disease BEFREE Although NTX had no significant effect on relapse to heavy drinking in the overall sample in CSP 425, it significantly reduced relapse in the subgroup that provided DNA for analysis (i.e., the present study sample). 17374034 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 GeneticVariation disease BEFREE Analysis of 62 SNPs covering 6 CSP genes in 2019 Han Chinese (976 SCZ patients and 1043 healthy individuals) showed an association of two SNPs (rs4379857, P = 0.009, OR [95% CI]: 1.200 [1.379-1.046]; rs2238751, P = 0.023, OR [95% CI]: 1.253 [1.522-1.032]) with SCZ. 25043418 2014
CUI: C0024031
Disease: Low Back Pain
Low Back Pain 		0.010 Biomarker phenotype BEFREE Anodal tDCS increased M1 excitability (increased map volume and reduced CSP) in controls but had no effect in the LBP group. 29016867 2018
CUI: C4732730
Disease: Blood spots
Blood spots 		0.020 AlteredExpression disease BEFREE Antibody extracted from dry blood spots was used to measure IgG levels to CSP, MSP-1<sub>42</sub> and AMA1. 28720100 2017
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		0.010 Biomarker disease BEFREE Associations between measures of arterial stiffness (heart rate corrected augmentation index [AI75]), central aortic blood pressure (central systolic pressure [CSP] and heart rate corrected central augmentation pressure [CAP75]) and measures of OSA severity were explored using stepwise regression modelling. 30736873 2019
CUI: C0024530
Disease: Malaria
Malaria 		0.100 AlteredExpression disease BEFREE Baseline CSP IgG levels are elevated in malaria cases than controls (p < 0.001). 31092823 2019