Condition: Myopathy
rs73089338 in
CDCP1 gene and
Myopathy
PMID 31220337 2019 Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink.
rs140854723 in
EVC2 gene and
Myopathy
PMID 31220337 2019 Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink.
rs1565930588 in
HSPB8 gene and
Myopathy
PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.
PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.
rs77051277 in
LOC105371433 gene and
Myopathy
PMID 31220337 2019 Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink.
rs61865606 in
LOC105378568 gene and
Myopathy
PMID 31220337 2019 Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink.
rs1057516031 in
MTM1 gene and
Myopathy
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs6925743 in
PPP1R14C gene and
Myopathy
PMID 31220337 2019 Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink.
rs121908557 in
SCN4A;LOC105371858 gene and
Myopathy
PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
PMID 19065518 2008 [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].
rs4149056 in
SLCO1B1 gene and
Myopathy
PMID 31220337 2019 The data highlight the role of SLCO1B1 c.521C>T SNP as a replicable genetic risk factor for statin myopathy.
rs33428 in
ZNF536 gene and
Myopathy
PMID 31220337 2019 Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink.