| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
disease | 0.450 | None | 1.000 | 6 | 15 | 1994 | 2016 | ||||||||
|
fibrillin 2 | 0.505 | 0.808 | 1.00 |
|
disease | 0.120 | None | 1.000 | 2 | 1 | 1995 | 2016 | ||||||||
|
collagen type I alpha 1 chain | 0.430 | 0.808 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
collagen type II alpha 1 chain | 0.444 | 0.846 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
collagen type V alpha 1 chain | 0.536 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
collagen type V alpha 2 chain | 0.568 | 0.731 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
collagen type XI alpha 1 chain | 0.495 | 0.846 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
jumonji domain containing 1C | 0.517 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
filamin A | 0.419 | 0.846 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
SIN3 transcription regulator family member A | 0.551 | 0.692 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
patched 1 | 0.398 | 0.885 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
ras responsive element binding protein 1 | 0.500 | 0.808 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
SON DNA binding protein | 0.565 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
histone cell cycle regulator | 0.537 | 0.808 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
nuclear receptor binding SET domain protein 2 | 0.507 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
ASXL transcriptional regulator 3 | 0.590 | 0.577 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | 0.674 | 0.500 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
SEC24 homolog C, COPII coat complex component | 0.543 | 0.808 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
mediator complex subunit 12 | 0.476 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
SATB homeobox 2 | 0.503 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
ABL proto-oncogene 1, non-receptor tyrosine kinase | 0.432 | 0.923 | 1.00 |
|
disease | 0.300 | moderate | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
SUFU negative regulator of hedgehog signaling | 0.493 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
scavenger receptor class F member 2 | 0.691 | 0.423 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
KAT8 regulatory NSL complex subunit 1 | 0.592 | 0.731 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
fibulin 5 | 0.546 | 0.692 | 1.00 |
|
disease | 0.100 | None | 0 | 0 |