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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
mediator complex subunit 13 | 0.711 | 0.538 | 1.00 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 1 | 2018 | 2018 | ||||||||
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 6 | 2012 | 2015 | ||||||||
|
leucine zipper like transcription regulator 1 | 0.547 | 0.808 | 1.0E-92 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
calcium/calmodulin dependent protein kinase II alpha | 0.612 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 8 | 2017 | 2017 | ||||||||
|
SPG11 vesicle trafficking associated, spatacsin | 0.576 | 0.538 | 1.6E-39 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2009 | 2009 | ||||||||
|
lysine acetyltransferase 6A | 0.560 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
fibroblast growth factor 12 | 0.619 | 0.615 | 0.62 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
IQ motif and Sec7 domain ArfGEF 2 | 0.573 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
zinc finger protein 142 | 0.861 | 0.192 | 4.8E-16 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2019 | 2019 | ||||||||
|
AT-hook DNA binding motif containing 1 | 0.700 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2014 | 2014 | ||||||||
|
mechanistic target of rapamycin kinase | 0.343 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
neurobeachin | 0.760 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
calcium/calmodulin dependent protein kinase II beta | 0.626 | 0.538 | 0.74 |
|
phenotype | 0.100 | None | 1.000 | 1 | 5 | 2017 | 2017 | ||||||||
|
TSPEAR antisense RNA 1 | 0.821 | 0.269 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||||||
|
BR serine/threonine kinase 2 | 0.700 | 0.500 | 0.95 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2019 | 2019 | ||||||||
|
kynureninase | 0.617 | 0.692 | 4.2E-18 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2017 | 2017 | ||||||||
|
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 | ||||||||
|
purine rich element binding protein A | 0.644 | 0.500 | 0.94 |
|
phenotype | 0.100 | None | 0 | 11 | |||||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
Ras like without CAAX 1 | 0.527 | 0.808 | 0.13 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ribosomal protein S6 kinase A3 | 0.491 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
actin like 6B | 0.656 | 0.462 | 2.8E-04 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ring finger protein, LIM domain interacting | 0.686 | 0.500 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
lysine methyltransferase 5B | 0.736 | 0.423 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 | 0.599 | 0.654 | 2.3E-06 |
|
phenotype | 0.100 | None | 0 | 1 |