| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
AAR2 splicing factor | 0.839 | 0.192 | 8.3E-06 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ABL proto-oncogene 1, non-receptor tyrosine kinase | 0.432 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
ATP/GTP binding protein 1 | 0.650 | 0.538 | 0.42 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
aldehyde dehydrogenase 18 family member A1 | 0.551 | 0.769 | 8.1E-04 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | 0.610 | 0.808 | 3.6E-19 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
ALG13 UDP-N-acetylglucosaminyltransferase subunit | 0.631 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ALG3 alpha-1,3- mannosyltransferase | 0.644 | 0.500 | 3.7E-10 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
ALG8 alpha-1,3-glucosyltransferase | 0.659 | 0.577 | 1.2E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ankyrin repeat and LEM domain containing 2 | 0.691 | 0.500 | 1.0E-10 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
adaptor related protein complex 4 subunit beta 1 | 0.631 | 0.654 | 1.3E-09 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2011 | 2012 | ||||||||
|
AP4B1 antisense RNA 1 | 0.805 | 0.231 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2011 | 2012 | |||||||||
|
adaptor related protein complex 4 subunit mu 1 | 0.638 | 0.500 | 4.5E-17 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
AT-rich interaction domain 1A | 0.455 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ADP ribosylation factor like GTPase 14 effector protein | 0.861 | 0.192 | 0.38 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
asparagine synthetase (glutamine-hydrolyzing) | 0.595 | 0.692 | 9.4E-06 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
abnormal spindle microtubule assembly | 0.526 | 0.769 | 3.4E-49 |
|
phenotype | 0.100 | None | 1.000 | 2 | 5 | 2002 | 2009 | ||||||||
|
ASXL transcriptional regulator 1 | 0.482 | 0.808 | 1.3E-14 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
ATPase plasma membrane Ca2+ transporting 3 | 0.631 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ATR serine/threonine kinase | 0.456 | 0.923 | 3.5E-09 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
ATRX chromatin remodeler | 0.452 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 4 | |||||||||||
|
BAF chromatin remodeling complex subunit BCL11A | 0.541 | 0.769 | 0.97 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone | 0.534 | 0.808 | 4.7E-13 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
BLOC-1 related complex subunit 5 | 0.805 | 0.192 | 1.2E-03 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
bromodomain PHD finger transcription factor | 0.560 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2017 | 2017 | ||||||||
|
BRF1 RNA polymerase III transcription initiation factor subunit | 0.700 | 0.462 | 1.0E-04 |
|
phenotype | 0.100 | None | 0 | 4 |