Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.310 AlteredExpression phenotype BEFREE But the presence of hyperglycemia, hypothermia, and reduced gastrointestinal motility along with normal serum cholinesterase levels and the absence of fasciculations and a hypersecretory state (salivation, lacrimation, perspiration, and diarrhea) point against OP poisoning. 31482050 2019
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.310 Biomarker phenotype CTD_human Violent fasciculations after small dose succinylcholine infusion as a first sign of atypical pseudocholinesterase. 6465587 1984
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		0.130 Biomarker phenotype BEFREE Clinicians should use a combination of EMG and MUS for the detection and quantitative analysis of fasciculation in ALS. 31506234 2020
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		0.130 Biomarker phenotype BEFREE To describe the fasciculation pattern in ALS and to analyse its clinical and pathophysiological significance. 30292684 2018
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		0.130 GeneticVariation phenotype BEFREE We identified a novel mutation in SOD1 in a man who presented at age 49 with lower limb stiffness, and at age 53, a spastic paraparesia with distal muscular atrophy in the lower limbs and fasciculations in the quadriceps.A diagnosis of ALS was established. 23954173 2014
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		0.130 Biomarker phenotype HPO
Entrez Id: 10342
Gene Symbol: TFG
TFG 		0.110 AlteredExpression phenotype BEFREE Using CRISPR-mediated genome editing, we engineered human stem cells that express the mutant form of TFG at endogenous levels and identified specific defects in secretion from the ER and axon fasciculation following neuronal differentiation. 30157421 2018
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		0.110 GeneticVariation phenotype BEFREE Fasciculations were associated with CAG repeat length of the long SCA2 allele (Mann-Whitney U-test, P < 0.03, after Bonferroni procedure). 12614315 2003
Entrez Id: 10342
Gene Symbol: TFG
TFG 		0.110 Biomarker phenotype HPO
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		0.110 Biomarker phenotype HPO
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.100 Biomarker phenotype HPO
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		0.100 Biomarker phenotype HPO
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		0.100 Biomarker phenotype HPO
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1 		0.100 Biomarker phenotype HPO
Entrez Id: 2743
Gene Symbol: GLRB
GLRB 		0.100 Biomarker phenotype HPO
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.100 Biomarker phenotype HPO
Entrez Id: 84896
Gene Symbol: ATAD1
ATAD1 		0.100 Biomarker phenotype HPO
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		0.100 Biomarker phenotype HPO
Entrez Id: 3178
Gene Symbol: HNRNPA1
HNRNPA1 		0.100 Biomarker phenotype HPO
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		0.100 Biomarker phenotype HPO
Entrez Id: 29110
Gene Symbol: TBK1
TBK1 		0.100 Biomarker phenotype HPO
Entrez Id: 57562
Gene Symbol: CEP126
CEP126 		0.100 Biomarker phenotype HPO
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		0.100 Biomarker phenotype HPO
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		0.100 Biomarker phenotype HPO
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72 		0.100 Biomarker phenotype HPO