Entrez Id: |
10329 |
Gene Symbol: |
RXYLT1 |
RXYLT1
|
ribitol xylosyltransferase 1
|
0.633 |
0.462 |
1.1E-06 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
0.100 |
None
|
|
0 |
0 |
|
|
Entrez Id: |
84892 |
Gene Symbol: |
POMGNT2 |
POMGNT2
|
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
|
0.628 |
0.500 |
5.6E-06 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
0.100 |
None
|
|
0 |
0 |
|
|
Entrez Id: |
84197 |
Gene Symbol: |
POMK |
POMK
|
protein O-mannose kinase
|
0.590 |
0.500 |
1.9E-08 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
0.100 |
None
|
|
0 |
0 |
|
|
Entrez Id: |
79147 |
Gene Symbol: |
FKRP |
FKRP
|
fukutin related protein
|
0.513 |
0.731 |
9.8E-06 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
0.100 |
None
|
|
0 |
0 |
|
|
Entrez Id: |
729920 |
Gene Symbol: |
CRPPA |
CRPPA
|
CDP-L-ribitol pyrophosphorylase A
|
0.566 |
0.654 |
2.5E-04 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
0.100 |
None
|
|
0 |
0 |
|
|
Entrez Id: |
64374 |
Gene Symbol: |
SIL1 |
SIL1
|
SIL1 nucleotide exchange factor
|
0.584 |
0.731 |
1.2E-02 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
0.100 |
None
|
|
0 |
0 |
|
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
piezo type mechanosensitive ion channel component 2
|
0.529 |
0.769 |
8.1E-07 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
0.100 |
None
|
|
0 |
0 |
|
|
Entrez Id: |
55624 |
Gene Symbol: |
POMGNT1 |
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
0.537 |
0.538 |
1.9E-20 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
0.100 |
None
|
|
0 |
0 |
|
|
Entrez Id: |
51763 |
Gene Symbol: |
INPP5K |
INPP5K
|
inositol polyphosphate-5-phosphatase K
|
0.587 |
0.654 |
4.2E-05 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
0.100 |
None
|
|
0 |
0 |
|
|
Entrez Id: |
29968 |
Gene Symbol: |
PSAT1 |
PSAT1
|
phosphoserine aminotransferase 1
|
0.478 |
0.846 |
1.1E-08 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
0.100 |
None
|
|
0 |
0 |
|
|
Entrez Id: |
29954 |
Gene Symbol: |
POMT2 |
POMT2
|
protein O-mannosyltransferase 2
|
0.544 |
0.615 |
9.4E-12 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
0.100 |
None
|
|
0 |
0 |
|
|
Entrez Id: |
26227 |
Gene Symbol: |
PHGDH |
PHGDH
|
phosphoglycerate dehydrogenase
|
0.484 |
0.885 |
1.3E-04 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
0.100 |
None
|
|
0 |
0 |
|
|
Entrez Id: |
2218 |
Gene Symbol: |
FKTN |
FKTN
|
fukutin
|
0.511 |
0.692 |
8.7E-07 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
0.100 |
None
|
|
0 |
0 |
|
|
Entrez Id: |
1605 |
Gene Symbol: |
DAG1 |
DAG1
|
dystroglycan 1
|
0.498 |
0.808 |
0.98 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
0.100 |
None
|
|
0 |
0 |
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
0.578 |
0.577 |
2.8E-07 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
0.100 |
None
|
|
0 |
0 |
|
|
Entrez Id: |
1282 |
Gene Symbol: |
COL4A1 |
COL4A1
|
collagen type IV alpha 1 chain
|
0.484 |
0.731 |
1.00 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
0.100 |
None
|
|
0 |
0 |
|
|
Entrez Id: |
11041 |
Gene Symbol: |
B4GAT1 |
B4GAT1
|
beta-1,4-glucuronyltransferase 1
|
0.590 |
0.538 |
6.9E-03 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
0.100 |
None
|
|
0 |
0 |
|
|
Entrez Id: |
10585 |
Gene Symbol: |
POMT1 |
POMT1
|
protein O-mannosyltransferase 1
|
0.525 |
0.615 |
4.2E-17 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
0.100 |
None
|
|
0 |
0 |
|
|
Entrez Id: |
9215 |
Gene Symbol: |
LARGE1 |
LARGE1
|
LARGE xylosyl- and glucuronyltransferase 1
|
0.526 |
0.654 |
0.99 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
0.100 |
None
|
|
0 |
0 |
|
|