Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
0.400 Biomarker GENOMICS_ENGLAND Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. 8220423

1993

Entrez Id: 7169
Gene Symbol: TPM2
TPM2
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
0.390 Biomarker GENOMICS_ENGLAND Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. 23413262

2013

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
0.360 Biomarker GENOMICS_ENGLAND A 'second truncation' in TTN causes early onset recessive muscular dystrophy. 28716623

2017

Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
0.360 Biomarker GENOMICS_ENGLAND Mutations in the nebulin gene can cause severe congenital nemaline myopathy. 12207937

2002

Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
0.360 Biomarker GENOMICS_ENGLAND Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. 11528383

2001

Entrez Id: 7170
Gene Symbol: TPM3
TPM3
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
0.340 Biomarker GENOMICS_ENGLAND Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. 10619715

1999

Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
0.320 Biomarker GENOMICS_ENGLAND Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. 28012042

2017

Entrez Id: 9200
Gene Symbol: HACD1
HACD1
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
0.320 Biomarker GENOMICS_ENGLAND We suggest that the mutation in the HACD1 gene causes a reduction in the synthesis of VLCFAs, which are components of membrane lipids and participants in physiological processes, leading to congenital myopathy. 23933735

2013

Entrez Id: 4632
Gene Symbol: MYL1
MYL1
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
0.310 Biomarker GENOMICS_ENGLAND Our data implicate MYL1 as a crucial protein for adequate skeletal muscle function and that MYL1 deficiency is associated with severe congenital myopathy. 30215711

2018

Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
0.310 Biomarker GENOMICS_ENGLAND Using whole exome sequencing, we identified homozygous or compound heterozygous SCN4A mutations in a cohort of 11 individuals from six unrelated kindreds with congenital myopathy. 26700687

2016

Entrez Id: 339855
Gene Symbol: KY
KY
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
0.300 Biomarker GENOMICS_ENGLAND Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. 27484770

2016

Entrez Id: 7125
Gene Symbol: TNNC2
TNNC2
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
0.300 Biomarker GENOMICS_ENGLAND Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. 26924529

2016