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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
MAGE family member L2 | 0.560 | 0.654 | 0.98 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
aldehyde dehydrogenase 18 family member A1 | 0.551 | 0.769 | 8.1E-04 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
RAD51 recombinase | 0.447 | 0.846 | 2.7E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
centrosomal protein 290 | 0.517 | 0.769 | 1.1E-60 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
MKS transition zone complex subunit 1 | 0.505 | 0.769 | 3.4E-16 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
MLLT1 super elongation complex subunit | 0.663 | 0.346 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
survival of motor neuron 1, telomeric | 0.454 | 0.769 | 1.6E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
survival of motor neuron 2, centromeric | 0.459 | 0.769 | 0.10 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
cytoplasmic linker associated protein 1 | 0.751 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
SPG7 matrix AAA peptidase subunit, paraplegin | 0.436 | 0.885 | 2.0E-36 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
diencephalon/mesencephalon homeobox 1 | 0.780 | 0.115 | 0.93 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
mitochondrial intermediate peptidase | 0.666 | 0.615 | 1.6E-15 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
centrosomal protein 120 | 0.564 | 0.731 | 4.1E-15 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
pyrroline-5-carboxylate reductase 1 | 0.570 | 0.654 | 2.0E-04 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
family with sequence similarity 120A opposite strand | 0.861 | 0.154 | 2.2E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
FKBP prolyl isomerase 14 | 0.650 | 0.654 | 1.5E-06 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ASXL transcriptional regulator 2 | 0.617 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
palmitoyl-protein thioesterase 1 | 0.593 | 0.808 | 4.9E-05 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
coenzyme Q8A | 0.674 | 0.385 | 9.3E-11 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ATPase H+ transporting V1 subunit A | 0.579 | 0.615 | 0.87 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
chromosome 12 open reading frame 4 | 0.691 | 0.308 | 1.1E-05 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
THAP domain containing 11 | 0.769 | 0.346 | 0.83 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
proline rich 12 | 0.716 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
WD repeat domain 19 | 0.554 | 0.769 | 4.6E-11 |
|
phenotype | 0.100 | None | 0 | 1 |