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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Rac family small GTPase 3 | 0.682 | 0.423 | 2.6E-03 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 2 | 2019 | 2019 | ||||||||
|
post-GPI attachment to proteins phospholipase 3 | 0.628 | 0.731 | 1.9E-03 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2016 | 2018 | ||||||||
|
OFD1 centriole and centriolar satellite protein | 0.510 | 0.808 | 0.96 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2008 | 2014 | ||||||||
|
TBC1 domain family member 24 | 0.530 | 0.808 | 1.3E-08 |
|
phenotype | 0.100 | None | 1.000 | 2 | 8 | 2014 | 2014 | ||||||||
|
arginyl-tRNA synthetase 1 | 0.604 | 0.538 | 3.3E-08 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2014 | 2017 | ||||||||
|
F-box and leucine rich repeat protein 4 | 0.695 | 0.423 | 1.1E-08 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2015 | 2017 | ||||||||
|
pyrroline-5-carboxylate reductase 2 | 0.682 | 0.462 | 2.1E-06 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
protein O-mannosyltransferase 1 | 0.525 | 0.615 | 4.2E-17 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2007 | 2007 | ||||||||
|
prosaposin | 0.532 | 0.846 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2009 | 2009 | ||||||||
|
CLN6 transmembrane ER protein | 0.670 | 0.231 | 1.0E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2013 | 2013 | ||||||||
|
spectrin alpha, non-erythrocytic 1 | 0.601 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
N-glycanase 1 | 0.601 | 0.654 | 1.5E-13 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SRY-box transcription factor 3 | 0.535 | 0.731 | 0.45 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 | 0.504 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
solute carrier family 18 member A2 | 0.554 | 0.769 | 7.6E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
sorting nexin 14 | 0.659 | 0.423 | 6.1E-17 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
ciliogenesis and planar polarity effector 1 | 0.575 | 0.692 | 5.9E-36 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
transmembrane protein 237 | 0.612 | 0.538 | 1.9E-12 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
STIL centriolar assembly protein | 0.584 | 0.731 | 0.20 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
pleckstrin homology and RhoGEF domain containing G2 | 0.705 | 0.423 | 1.4E-09 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
DS cell adhesion molecule like 1 | 0.839 | 0.346 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
terminal uridylyl transferase 1, U6 snRNA-specific | 0.805 | 0.192 | 4.5E-11 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ROS proto-oncogene 1, receptor tyrosine kinase | 0.439 | 0.885 | 1.6E-72 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
arginyl-tRNA synthetase 2, mitochondrial | 0.663 | 0.462 | 7.7E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
integrin subunit alpha 7 | 0.588 | 0.654 | 4.3E-17 |
|
phenotype | 0.100 | None | 0 | 1 |