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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
patched 1 | 0.398 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2006 | 2006 | ||||||||
|
collagen type II alpha 1 chain | 0.444 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
activator of transcription and developmental regulator AUTS2 | 0.569 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
RAD51 recombinase | 0.447 | 0.846 | 2.7E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ribosomal protein S6 kinase A3 | 0.491 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | 0.534 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
DEAD-box helicase 3 X-linked | 0.537 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
nuclear factor I X | 0.547 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
Cbl proto-oncogene | 0.527 | 0.769 | 6.1E-04 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ATP binding cassette subfamily D member 1 | 0.563 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 1998 | 1998 | ||||||||
|
cyclin dependent kinase 13 | 0.606 | 0.692 | 0.91 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
H3.3 histone A | 0.559 | 0.692 | 0.12 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
contactin associated protein 1 | 0.554 | 0.577 | 3.4E-05 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
synaptic Ras GTPase activating protein 1 | 0.584 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
zinc finger protein 292 | 0.695 | 0.423 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
TMEM256-PLSCR3 readthrough (NMD candidate) | 0.861 | 0.154 | 5.9E-03 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
transmembrane protein 256 | 0.861 | 0.154 | 6.1E-04 |
|
phenotype | 0.100 | None | 0 | 1 |