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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
G1 to S phase transition 2 | 0.821 | 0.154 | 0.98 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
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 | |||||||||
|
G protein subunit beta 5 | 0.736 | 0.308 | 6.4E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SCN1A and SCN9A antisense RNA 1 | 0.636 | 0.346 |
|
phenotype | 0.100 | None | 0 | 2 | ||||||||||||
|
actin like 6A | 0.678 | 0.346 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
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 | ||||||||
|
T-box brain transcription factor 1 | 0.666 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SH3 and multiple ankyrin repeat domains 2 | 0.663 | 0.385 | 8.4E-07 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
microtubule associated serine/threonine kinase 1 | 0.711 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
proline rich 12 | 0.716 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
WD repeat domain 45 | 0.647 | 0.423 | 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 | |||||||||||
|
lysine methyltransferase 5B | 0.736 | 0.423 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
glutamine rich 1 | 0.716 | 0.423 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
transcription factor 20 | 0.644 | 0.423 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
N-alpha-acetyltransferase 15, NatA auxiliary subunit | 0.700 | 0.423 | 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 | |||||||||||
|
potassium voltage-gated channel subfamily B member 1 | 0.650 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
potassium voltage-gated channel subfamily Q member 3 | 0.604 | 0.462 | 0.80 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
actin like 6B | 0.656 | 0.462 | 2.8E-04 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
protocadherin 19 | 0.599 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
family with sequence similarity 111 member A | 0.663 | 0.462 | 2.2E-03 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
interferon regulatory factor 2 binding protein like | 0.631 | 0.462 | 0.84 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
thyroid hormone receptor interactor 12 | 0.678 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 |