Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.100 Biomarker group LHGDN Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies. 16276108 2006
Entrez Id: 4318
Gene Symbol: MMP9
MMP9 		0.010 AlteredExpression group LHGDN Serum levels of matrix metalloproteinases-2 and -9 and their tissue inhibitors in inflammatory neuromuscular disorders. 16772717 2006
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2 		0.010 AlteredExpression group LHGDN Serum levels of matrix metalloproteinases-2 and -9 and their tissue inhibitors in inflammatory neuromuscular disorders. 16772717 2006
Entrez Id: 7076
Gene Symbol: TIMP1
TIMP1 		0.010 AlteredExpression group LHGDN Serum levels of matrix metalloproteinases-2 and -9 and their tissue inhibitors in inflammatory neuromuscular disorders. 16772717 2006
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4 		0.010 Biomarker group LHGDN These findings suggest that the disruption of DMD and the absence of ACSL4 in the patient are responsible for neuromuscular disease and cognitive impairment. 16276108 2006
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		0.010 AlteredExpression group LHGDN Serum levels of matrix metalloproteinases-2 and -9 and their tissue inhibitors in inflammatory neuromuscular disorders. 16772717 2006
Entrez Id: 7167
Gene Symbol: TPI1
TPI1 		0.310 Biomarker group CTD_human Human triosephosphate isomerase deficiency resulting from mutation of Phe-240. 8503454 1993
Entrez Id: 7504
Gene Symbol: XK
XK 		0.300 Biomarker group CTD_human A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis. 8619554 1996
Entrez Id: 7504
Gene Symbol: XK
XK 		0.300 Biomarker group CTD_human Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. 8004674 1994
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.200 GeneticVariation group CLINVAR Using exome data to identify malignant hyperthermia susceptibility mutations. 24195946 2013
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.200 CausalMutation group CLINVAR Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. 22473935 2012
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.200 GeneticVariation group CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381 2015
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.200 GeneticVariation group CLINVAR RYR1 mutations are a common cause of congenital myopathies with central nuclei. 20839240 2010
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.200 CausalMutation group CLINVAR Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. 17483490 2007
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.200 GeneticVariation group CLINVAR RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. 23553787 2013
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.200 CausalMutation group CLINVAR A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families. 19645060 2009
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.200 CausalMutation group CLINVAR RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. 23553787 2013
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.200 CausalMutation group CLINVAR Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. 25476234 2014
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.200 GeneticVariation group CLINVAR Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. 18253926 2008
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.200 CausalMutation group CLINVAR Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. 18253926 2008
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.200 GeneticVariation group CLINVAR Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population. 21455645 2011
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.200 GeneticVariation group CLINVAR Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. 24627108 2014
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.200 CausalMutation group CLINVAR Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. 20080402 2010
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.200 GeneticVariation group CLINVAR Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. 21062345 2011
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.200 CausalMutation group CLINVAR RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. 24951453 2014