Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 GermlineCausalMutation ORPHANET A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. 20236121

2010
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.720 GermlineCausalMutation ORPHANET Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 19299310

2009
Entrez Id: 1605
Gene Symbol: DAG1
DAG1
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 GermlineCausalMutation ORPHANET A loss-of-function mutation in DAG1 can result in Walker-Warburg syndrome and is not embryonic lethal. 25934851

2015
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 GermlineCausalMutation ORPHANET The mutations in either POMT1 or POMT2 can lead to Walker-Warburg syndrome, a congenital muscular dystrophy with abnormal neuronal migration. 19880378

2010
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.660 GermlineCausalMutation ORPHANET This is the first time a mutation localized outside of the fukutin coding region has been identified as a cause of WWS. 18177472

2008
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.660 GermlineCausalMutation ORPHANET Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 17878207

2007
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.650 GermlineCausalMutation ORPHANET ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. 22522420

2012
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.620 GermlineCausalMutation ORPHANET These functional studies identify an important role of B3GNT1 in the synthesis of the uncharacterized laminin-binding glycan of αDG and implicate B3GNT1 as a novel causative gene for WWS. 23359570

2013
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.620 GermlineCausalMutation ORPHANET We found that gtdc2 knockdown in zebrafish replicates all WWS features (hydrocephalus, ocular defects, and muscular dystrophy), strongly suggesting that GTDC2 mutations cause WWS. 22958903

2012
Entrez Id: 10329
Gene Symbol: RXYLT1
RXYLT1
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.600 GermlineCausalMutation ORPHANET Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. 23519211

2013
Entrez Id: 10329
Gene Symbol: RXYLT1
RXYLT1
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.600 GermlineCausalMutation ORPHANET Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. 23217329

2012
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.600 GermlineCausalMutation ORPHANET Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies. 21727005

2011
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.600 GermlineCausalMutation ORPHANET The mutations in either POMT1 or POMT2 can lead to Walker-Warburg syndrome, a congenital muscular dystrophy with abnormal neuronal migration. 19880378

2010
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.600 GermlineCausalMutation ORPHANET Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 19299310

2009
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.520 GermlineCausalMutation ORPHANET These findings implicate a novel gene and a novel mechanism in the etiology of MEB/WWS and expand the clinical spectrum of COL4A1-associated disorders. 21625620

2011
Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.510 GermlineCausalMutation ORPHANET Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. 23519211

2013
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.500 GermlineCausalMutation ORPHANET Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. 23453667

2013