| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
tetratricopeptide repeat domain 1 | 2.5E-06 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||||
|
notch receptor 3 | 0.435 | 0.808 | 0.41 |
|
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 | |||||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
cell division cycle 42 | 0.458 | 0.846 | 0.79 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
BCL6 corepressor | 0.471 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
zinc finger E-box binding homeobox 2 | 0.471 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
phospholipase A2 group VI | 0.476 | 0.846 | 2.5E-10 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
partner and localizer of BRCA2 | 0.485 | 0.769 | 3.0E-19 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
7-dehydrocholesterol reductase | 0.500 | 0.846 | 3.9E-13 |
|
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 | |||||||||||
|
OFD1 centriole and centriolar satellite protein | 0.510 | 0.808 | 0.96 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2008 | 2014 | ||||||||
|
OPA1 mitochondrial dynamin like GTPase | 0.510 | 0.846 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
spectrin repeat containing nuclear envelope protein 1 | 0.511 | 0.846 | 3.2E-52 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
centrosomal protein 290 | 0.517 | 0.769 | 1.1E-60 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
forkhead box G1 | 0.522 | 0.692 | 0.94 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
protein O-mannosyltransferase 1 | 0.525 | 0.615 | 4.2E-17 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2007 | 2007 | ||||||||
|
abnormal spindle microtubule assembly | 0.526 | 0.769 | 3.4E-49 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
TBC1 domain family member 24 | 0.530 | 0.808 | 1.3E-08 |
|
phenotype | 0.100 | None | 1.000 | 2 | 8 | 2014 | 2014 | ||||||||
|
prosaposin | 0.532 | 0.846 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2009 | 2009 | ||||||||
|
RPGRIP1 like | 0.534 | 0.769 | 4.1E-31 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
phosphomannomutase 2 | 0.535 | 0.769 | 1.4E-17 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SRY-box transcription factor 3 | 0.535 | 0.731 | 0.45 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
microcephalin 1 | 0.540 | 0.846 | 7.8E-30 |
|
phenotype | 0.100 | None | 0 | 1 |