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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
quinoid dihydropteridine reductase | 0.691 | 0.500 | 1.5E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | 0.601 | 0.692 | 6.1E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Rho GTPase activating protein 31 | 0.581 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
TBC1 domain family member 24 | 0.530 | 0.808 | 1.3E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
selenoprotein N | 0.575 | 0.692 | 9.8E-10 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
THO complex 2 | 0.650 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
proteasome 26S subunit, non-ATPase 12 | 0.578 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
nucleoporin 107 | 0.595 | 0.500 | 2.6E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RPGR interacting protein 1 | 0.553 | 0.654 | 1.3E-23 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
periaxin | 0.650 | 0.577 | 2.1E-14 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ectopic P-granules autophagy protein 5 homolog | 0.623 | 0.769 | 1.4E-13 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
lysine methyltransferase 2C | 0.558 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
aldehyde dehydrogenase 18 family member A1 | 0.551 | 0.769 | 8.1E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
pyrroline-5-carboxylate reductase 1 | 0.570 | 0.654 | 2.0E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 5 | 0.561 | 0.731 | 5.6E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 2 | 0.582 | 0.654 | 2.6E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 19 | 0.585 | 0.731 | 3.2E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
6-pyruvoyltetrahydropterin synthase | 0.636 | 0.654 | 6.5E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
hydatidiform mole associated and imprinted | 0.670 | 0.538 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
methylcrotonoyl-CoA carboxylase 1 | 0.700 | 0.308 | 4.0E-12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
twinkle mtDNA helicase | 0.516 | 0.692 | 3.2E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
spermatogenesis associated 7 | 0.656 | 0.385 | 5.2E-13 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
LMBR1 domain containing 1 | 0.716 | 0.385 | 9.0E-11 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
methyl-CpG binding domain protein 5 | 0.581 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 |