RXYLT1, ribitol xylosyltransferase 1, 10329

N. diseases: 55; N. variants: 13
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1565898123
rs1565898123
Entrez Id: 10329
Gene Symbol: RXYLT1
RXYLT1
CUI: C3554381
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 		A 0.700 GeneticVariation CLINVAR Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. 23519211 2013
dbSNP: rs1565898123
rs1565898123
Entrez Id: 10329
Gene Symbol: RXYLT1
RXYLT1
CUI: C3554381
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 		A 0.700 GeneticVariation CLINVAR Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. 23217329 2012