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: rs752817129
rs752817129
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
CUI: C3553330
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 		0.700 GeneticVariation UNIPROT ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. 23288328 2013
dbSNP: rs752817129
rs752817129
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
CUI: C3553330
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 		0.700 GeneticVariation UNIPROT 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. 24120487 2013
dbSNP: rs752817129
rs752817129
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
CUI: C3553330
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 		0.700 GeneticVariation UNIPROT Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. 23217329 2012
dbSNP: rs752817129
rs752817129
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
CUI: C3553330
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 		0.700 GeneticVariation UNIPROT ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. 22522420 2012
dbSNP: rs752817129
rs752817129
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
CUI: C3553330
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 		0.700 GeneticVariation UNIPROT Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. 22522421 2012