| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
contactin associated protein 1 | 0.554 | 0.577 | 3.4E-05 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 |
|
disease | 0.100 | None | 0 | 2 | ||||||||||||
|
TBC1 domain family member 24 | 0.530 | 0.808 | 1.3E-08 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
solute carrier family 12 member 5 | 0.570 | 0.654 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
bone morphogenetic protein 4 | 0.422 | 0.808 | 0.96 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
solute carrier family 16 member 2 | 0.592 | 0.577 | 0.99 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
D-2-hydroxyglutarate dehydrogenase | 0.691 | 0.500 | 5.4E-02 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
ALG9 alpha-1,2-mannosyltransferase | 0.644 | 0.654 | 6.4E-04 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
ubiquitin like modifier activating enzyme 5 | 0.582 | 0.731 | 2.5E-04 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
SMG9 nonsense mediated mRNA decay factor | 0.729 | 0.346 | 3.5E-13 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
VPS11 core subunit of CORVET and HOPS complexes | 0.633 | 0.654 | 1.9E-05 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 7 | 0.603 | 0.615 | 8.2E-13 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
catenin beta 1 | 0.303 | 0.885 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
forkhead box G1 | 0.522 | 0.692 | 0.94 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
lysine demethylase 1A | 0.512 | 0.808 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
pogo transposable element derived with ZNF domain | 0.599 | 0.577 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
thioredoxin 2 | 0.628 | 0.615 | 2.6E-05 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
inosine triphosphatase | 0.604 | 0.500 | 1.0E-07 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
methylmalonyl-CoA mutase | 0.534 | 0.731 | 1.7E-22 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
beta-ureidopropionase 1 | 0.722 | 0.346 | 7.4E-12 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
aminoacylase 1 | 0.653 | 0.577 | 6.9E-09 |
|
disease | 0.100 | None | 0 | 0 |