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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
mitochondrial genome maintenance exonuclease 1 | 0.695 | 0.423 | 1.8E-03 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
UTP23 small subunit processome component | 0.711 | 0.385 | 8.6E-02 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
transport and golgi organization 2 homolog | 0.666 | 0.615 | 1.5E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
contactin associated protein 1 | 0.554 | 0.577 | 3.4E-05 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
coiled-coil and C2 domain containing 2A | 0.532 | 0.692 | 1.7E-27 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone | 0.534 | 0.808 | 4.7E-13 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
sodium voltage-gated channel alpha subunit 8 | 0.510 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
VPS11 core subunit of CORVET and HOPS complexes | 0.633 | 0.654 | 1.9E-05 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | 0.610 | 0.808 | 3.6E-19 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 | 0.527 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SRY-box transcription factor 11 | 0.494 | 0.808 | 0.86 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
protein phosphatase 2 scaffold subunit Aalpha | 0.588 | 0.577 | 0.98 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
syntaxin binding protein 1 | 0.532 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
kelch like family member 7 | 0.581 | 0.731 | 4.6E-05 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
WD repeat domain 19 | 0.554 | 0.769 | 4.6E-11 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
pyrroline-5-carboxylate reductase 1 | 0.570 | 0.654 | 2.0E-04 |
|
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 | |||||||||||
|
patched 1 | 0.398 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
THAP domain containing 11 | 0.769 | 0.346 | 0.83 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
arginyl-tRNA synthetase 2, mitochondrial | 0.663 | 0.462 | 7.7E-14 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
formin 2 | 0.610 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
proline rich 12 | 0.716 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 |