| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
ATP binding cassette subfamily B member 6 (Langereis blood group) | 0.431 | 0.885 | 8.6E-19 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ATP binding cassette subfamily C member 6 | 0.540 | 0.654 | 5.6E-35 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
acid phosphatase 5, tartrate resistant | 0.561 | 0.731 | 7.9E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
actin beta | 0.325 | 0.923 | 0.99 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | 0.529 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
complement C1r | 0.638 | 0.654 | 0.78 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
complement C1s | 0.705 | 0.462 | 6.8E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
coproporphyrinogen oxidase | 0.488 | 0.846 | 0.17 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
CST telomere replication complex component 1 | 0.601 | 0.538 | 1.6E-11 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
cytochrome b-245 alpha chain | 0.520 | 0.769 | 8.9E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
cytochrome b-245 beta chain | 0.452 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
cytochrome b-245 chaperone 1 | 0.736 | 0.462 | 6.0E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
damage specific DNA binding protein 2 | 0.576 | 0.654 | 7.4E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
dyskerin pseudouridine synthase 1 | 0.547 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ERCC excision repair 2, TFIIH core complex helicase subunit | 0.420 | 0.846 | 7.1E-20 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ERCC excision repair 3, TFIIH core complex helicase subunit | 0.504 | 0.846 | 3.4E-11 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ERCC excision repair 4, endonuclease catalytic subunit | 0.468 | 0.846 | 1.4E-12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ERCC excision repair 5, endonuclease | 0.499 | 0.731 | 2.7E-13 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
fibroblast growth factor receptor 3 | 0.391 | 0.846 | 1.6E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
gap junction protein alpha 1 | 0.393 | 0.885 | 0.16 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
gap junction protein beta 3 | 0.621 | 0.462 | 2.2E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
gap junction protein beta 4 | 0.691 | 0.462 | 5.5E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
G protein subunit alpha q | 0.516 | 0.808 | 0.98 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
GNAS complex locus | 0.420 | 0.885 | 0.68 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
glycoprotein nmb | 0.566 | 0.692 | 2.9E-27 |
|
phenotype | 0.100 | None | 0 | 0 |