Source: CLINVAR
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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
P2RX5-TAX1BP3 readthrough (NMD candidate) | 0.588 | 0.769 |
|
disease | 0.100 | None | 0 | 1 | ||||||||||||
|
cyclin dependent kinase 20 | 0.682 | 0.462 | 5.9E-14 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
GNAS complex locus | 0.420 | 0.885 | 0.68 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
laminin subunit alpha 1 | 0.582 | 0.808 | 3.2E-32 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
Tax1 binding protein 3 | 0.716 | 0.615 | 5.2E-03 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
HIVEP zinc finger 1 | 0.711 | 0.500 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
kinesin family member 7 | 0.528 | 0.731 | 2.3E-22 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
kinesin family member 5B | 0.604 | 0.538 | 0.99 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
pleckstrin homology domain interacting protein | 0.595 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 6 | |||||||||||
|
chromosome 12 open reading frame 4 | 0.691 | 0.308 | 1.1E-05 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
transcription factor 20 | 0.644 | 0.423 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
chromatin assembly factor 1 subunit B | 0.663 | 0.538 | 0.43 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
transmembrane protein 47 | 0.821 | 0.154 | 0.80 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
mediator complex subunit 13L | 0.617 | 0.538 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
SH3 and multiple ankyrin repeat domains 2 | 0.663 | 0.385 | 8.4E-07 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
MAGE family member D2 | 0.691 | 0.462 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
chromodomain helicase DNA binding protein 2 | 0.585 | 0.577 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
chromosome 12 open reading frame 57 | 0.641 | 0.500 | 5.2E-05 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
retinoic acid induced 1 | 0.545 | 0.731 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
G protein subunit beta 5 | 0.736 | 0.308 | 6.4E-08 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
interleukin 1 receptor associated kinase 1 binding protein 1 | 0.780 | 0.346 | 1.4E-06 |
|
disease | 0.100 | None | 0 | 3 | |||||||||||
|
dynein cytoplasmic 1 heavy chain 1 | 0.547 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
CREB binding protein | 0.428 | 0.808 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
poly(U) binding splicing factor 60 | 0.536 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
disease | 0.100 | None | 0 | 1 |