| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
branched chain keto acid dehydrogenase E1 subunit alpha | 0.695 | 0.423 | 9.8E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
twinkle mtDNA helicase | 0.516 | 0.692 | 3.2E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
presenilin 2 | 0.550 | 0.654 | 5.4E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
presenilin 1 | 0.469 | 0.846 | 0.97 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
prosaposin | 0.532 | 0.846 | 0.99 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
DnaJ heat shock protein family (Hsp40) member C12 | 0.705 | 0.423 | 2.1E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
histone deacetylase 8 | 0.511 | 0.885 | 0.98 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
nucleoporin 133 | 0.678 | 0.577 | 9.3E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
VAC14 component of PIKFYVE complex | 0.588 | 0.731 | 0.19 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
O-sialoglycoprotein endopeptidase | 0.626 | 0.615 | 7.1E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
coenzyme Q9 | 0.700 | 0.423 | 5.5E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
nucleoporin 107 | 0.595 | 0.500 | 2.6E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RAN binding protein 2 | 0.578 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RAD21 cohesin complex component | 0.528 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RAB27A, member RAS oncogene family | 0.585 | 0.692 | 3.0E-07 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
quinoid dihydropteridine reductase | 0.691 | 0.500 | 1.5E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
6-pyruvoyltetrahydropterin synthase | 0.636 | 0.654 | 6.5E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
zinc finger SWIM-type containing 6 | 0.626 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
dedicator of cytokinesis 6 | 0.610 | 0.577 | 1.3E-26 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Rho GTPase activating protein 31 | 0.581 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
phosphoserine phosphatase | 0.570 | 0.808 | 9.7E-04 |
|
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 | |||||||||||
|
perforin 1 | 0.540 | 0.692 | 5.5E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 0.292 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
regulator of telomere elongation helicase 1 | 0.459 | 0.808 | 8.9E-10 |
|
phenotype | 0.100 | None | 0 | 0 |