CRPPA, CDP-L-ribitol pyrophosphorylase A, 729920

N. diseases: 134; N. variants: 26
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777797
rs587777797
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
CUI: C4015095
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 		0.800 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031 2017
dbSNP: rs587777797
rs587777797
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
CUI: C4015095
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 		0.800 GeneticVariation UNIPROT Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene. 23390185 2013
dbSNP: rs587777797
rs587777797
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
CUI: C4015095
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 		0.800 GeneticVariation UNIPROT ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. 23288328 2013
dbSNP: rs587777797
rs587777797
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
CUI: C4015095
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 		G 0.800 CausalMutation CLINVAR