Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.500 GeneticVariation CLINVAR

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.200 GeneticVariation CLINVAR

Entrez Id: 10585
Gene Symbol: POMT1
POMT1
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.170 CausalMutation CLINVAR

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.110 CausalMutation CLINVAR

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.110 GeneticVariation CLINVAR

Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.110 GeneticVariation CLINVAR

Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.110 CausalMutation CLINVAR

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.110 GeneticVariation CLINVAR

Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.100 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218

2016
Entrez Id: 55033
Gene Symbol: FKBP14
FKBP14
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.100 CausalMutation CLINVAR

Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.100 GeneticVariation CLINVAR