|
| Entrez Id: |
729920 |
| Gene Symbol: |
CRPPA |
CRPPA
|
0.300 |
Biomarker
|
disease |
CTD_human |
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
|
22522420 |
2012 |
|
| Entrez Id: |
729920 |
| Gene Symbol: |
CRPPA |
CRPPA
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
|
22522421 |
2012 |
|
B3GALNT2
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
84197 |
| Gene Symbol: |
POMK |
POMK
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
2218 |
| Gene Symbol: |
FKTN |
FKTN
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
79147 |
| Gene Symbol: |
FKRP |
FKRP
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
10329 |
| Gene Symbol: |
RXYLT1 |
RXYLT1
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
1605 |
| Gene Symbol: |
DAG1 |
DAG1
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
11041 |
| Gene Symbol: |
B4GAT1 |
B4GAT1
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
84892 |
| Gene Symbol: |
POMGNT2 |
POMGNT2
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
29954 |
| Gene Symbol: |
POMT2 |
POMT2
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
29925 |
| Gene Symbol: |
GMPPB |
GMPPB
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
9215 |
| Gene Symbol: |
LARGE1 |
LARGE1
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
10585 |
| Gene Symbol: |
POMT1 |
POMT1
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
| Entrez Id: |
10585 |
| Gene Symbol: |
POMT1 |
POMT1
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome.
|
28116189 |
2016 |
|
| Entrez Id: |
10585 |
| Gene Symbol: |
POMT1 |
POMT1
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review.
|
27421908 |
2016 |
|
| Entrez Id: |
10585 |
| Gene Symbol: |
POMT1 |
POMT1
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
|
24491487 |
2014 |
|
| Entrez Id: |
10585 |
| Gene Symbol: |
POMT1 |
POMT1
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
|
24491487 |
2014 |
|
| Entrez Id: |
10585 |
| Gene Symbol: |
POMT1 |
POMT1
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Detection limit of intragenic deletions with targeted array comparative genomic hybridization.
|
24304607 |
2013 |
|
| Entrez Id: |
10585 |
| Gene Symbol: |
POMT1 |
POMT1
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
|
22323514 |
2012 |
|
| Entrez Id: |
10585 |
| Gene Symbol: |
POMT1 |
POMT1
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
|
22549409 |
2012 |
|
| Entrez Id: |
10585 |
| Gene Symbol: |
POMT1 |
POMT1
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
|
20816175 |
2010 |
|
| Entrez Id: |
10585 |
| Gene Symbol: |
POMT1 |
POMT1
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
|
17869517 |
2008 |
|
| Entrez Id: |
10585 |
| Gene Symbol: |
POMT1 |
POMT1
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
|
18752264 |
2008 |