Source: GENOMICS_ENGLAND

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 Biomarker GENOMICS_ENGLAND

Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.410 Biomarker GENOMICS_ENGLAND A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. 29910097

2018
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.410 Biomarker GENOMICS_ENGLAND In this article, we report the involvement of the ISPD gene in milder dystroglycanopathy phenotypes ranging from congenital muscular dystrophy to limb-girdle muscular dystrophy and identified allelic ISPD variants in nine cases belonging to seven families. 23288328

2013
Entrez Id: 1605
Gene Symbol: DAG1
DAG1
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.400 Biomarker GENOMICS_ENGLAND 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 30055862

2018
Entrez Id: 3679
Gene Symbol: ITGA7
ITGA7
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.400 Biomarker GENOMICS_ENGLAND Mutations in the integrin alpha7 gene cause congenital myopathy. 9590299

1998
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. 19542096

2009