Gene | Gene Full Name | DSI g | DPI g | pLI | Disease | Type | Score gda | EL gda | EI gda | N. PMIDs | N. SNPs gda | First Ref. | Last Ref. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
ALG2 alpha-1,3/1,6-mannosyltransferase | 0.670 | 0.423 | 8.0E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ryanodine receptor 1 | 0.489 | 0.808 | 1.6E-29 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
trafficking protein particle complex 11 | 0.650 | 0.500 | 4.6E-10 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
transient receptor potential cation channel subfamily V member 4 | 0.457 | 0.808 | 2.2E-16 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
receptor associated protein of the synapse | 0.593 | 0.731 | 1.5E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
actin alpha 1, skeletal muscle | 0.540 | 0.769 | 1.1E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
selenoprotein N | 0.575 | 0.692 | 9.8E-10 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
patatin like phospholipase domain containing 2 | 0.511 | 0.846 | 4.1E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | 0.537 | 0.538 | 1.9E-20 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
misato mitochondrial distribution and morphology regulator 1 | 0.582 | 0.692 | 1.6E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
dolichyl-phosphate mannosyltransferase subunit 3, regulatory | 0.839 | 0.308 | 0.23 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
sarcoglycan alpha | 0.592 | 0.654 | 2.7E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
sarcoglycan beta | 0.656 | 0.346 | 9.6E-07 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
sarcoglycan delta | 0.641 | 0.615 | 2.1E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | 0.628 | 0.500 | 5.6E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ORAI calcium release-activated calcium modulator 1 | 0.520 | 0.808 | 1.9E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
myopalladin | 0.612 | 0.615 | 2.6E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
protein O-mannose kinase | 0.590 | 0.500 | 1.9E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
pyridine nucleotide-disulphide oxidoreductase domain 1 | 0.769 | 0.269 | 6.3E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
titin | 0.470 | 0.885 | 2.6E-96 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
tropomyosin 3 | 0.490 | 0.808 | 6.7E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
tropomyosin 2 | 0.530 | 0.654 | 2.4E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
thymidine kinase 2 | 0.585 | 0.615 | 3.9E-07 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
sarcoglycan gamma | 0.621 | 0.615 | 4.8E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
plectin | 0.523 | 0.808 | 8.3E-12 |
|
phenotype | 0.100 | None | 0 | 0 |