CRPPA, CDP-L-ribitol pyrophosphorylase A, 729920

N. diseases: 134; N. variants: 26
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515396
rs397515396
Entrez Id: 729920;100506025
Gene Symbol: CRPPA;CRPPA-AS1
CRPPA;CRPPA-AS1
CUI: C3553330
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 		A 0.700 CausalMutation CLINVAR ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. 23288328 2013
dbSNP: rs397515396
rs397515396
Entrez Id: 729920;100506025
Gene Symbol: CRPPA;CRPPA-AS1
CRPPA;CRPPA-AS1
CUI: C3553330
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 		A 0.700 CausalMutation CLINVAR ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. 22522420 2012