| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
zinc finger protein 142 | 0.861 | 0.192 | 4.8E-16 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2019 | 2019 | ||||||||
|
TSPEAR antisense RNA 1 | 0.821 | 0.269 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||||||
|
G1 to S phase transition 2 | 0.821 | 0.154 | 0.98 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
neurobeachin | 0.760 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
thrombospondin type laminin G domain and EAR repeats | 0.736 | 0.385 | 2.4E-17 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
G protein subunit beta 5 | 0.736 | 0.308 | 6.4E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
lysine methyltransferase 5B | 0.736 | 0.423 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
DExH-box helicase 30 | 0.722 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
glutamine rich 1 | 0.716 | 0.423 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
proline rich 12 | 0.716 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
microtubule associated serine/threonine kinase 1 | 0.711 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
mediator complex subunit 13 | 0.711 | 0.538 | 1.00 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 1 | 2018 | 2018 | ||||||||
|
KCNMA1 antisense RNA 1 | 0.705 | 0.654 |
|
phenotype | 0.100 | None | 0 | 1 | ||||||||||||
|
AT-hook DNA binding motif containing 1 | 0.700 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2014 | 2014 | ||||||||
|
BR serine/threonine kinase 2 | 0.700 | 0.500 | 0.95 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2019 | 2019 | ||||||||
|
N-alpha-acetyltransferase 15, NatA auxiliary subunit | 0.700 | 0.423 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ring finger protein, LIM domain interacting | 0.686 | 0.500 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
glutamate ionotropic receptor kainate type subunit 4 | 0.678 | 0.423 | 0.11 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
actin like 6A | 0.678 | 0.346 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
thyroid hormone receptor interactor 12 | 0.678 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
Bardet-Biedl syndrome 12 | 0.674 | 0.462 | 2.3E-07 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
zinc finger and BTB domain containing 18 | 0.666 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
T-box brain transcription factor 1 | 0.666 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 |
|
phenotype | 0.100 | None | 0 | 2 | ||||||||||||
|
SH3 and multiple ankyrin repeat domains 2 | 0.663 | 0.385 | 8.4E-07 |
|
phenotype | 0.100 | None | 0 | 1 |