| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
RPGRIP1 like | 0.534 | 0.769 | 4.1E-31 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RAS p21 protein activator 2 | 0.579 | 0.769 | 7.4E-31 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
KIAA0556 | 0.644 | 0.538 | 1.2E-29 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ryanodine receptor 1 | 0.489 | 0.808 | 1.6E-29 |
|
phenotype | 0.100 | None | 1.000 | 12 | 5 | 1973 | 2013 | ||||||||
|
centrosome and spindle pole associated protein 1 | 0.544 | 0.769 | 3.3E-29 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
glycine decarboxylase | 0.628 | 0.577 | 6.6E-28 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2005 | 2005 | ||||||||
|
coiled-coil and C2 domain containing 2A | 0.532 | 0.692 | 1.7E-27 |
|
phenotype | 0.100 | None | 1.000 | 6 | 2 | 2009 | 2017 | ||||||||
|
PMS1 homolog 2, mismatch repair system component | 0.484 | 0.808 | 4.5E-27 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
solute carrier family 3 member 1 | 0.593 | 0.731 | 7.2E-27 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
DNA polymerase epsilon, catalytic subunit | 0.526 | 0.731 | 8.0E-27 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ER membrane protein complex subunit 1 | 0.700 | 0.462 | 6.7E-26 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2013 | 2016 | ||||||||
|
Abelson helper integration site 1 | 0.513 | 0.846 | 1.1E-25 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
spectrin repeat containing nuclear envelope protein 2 | 0.623 | 0.692 | 1.7E-25 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
FANCD2 and FANCI associated nuclease 1 | 0.610 | 0.577 | 1.7E-25 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
myosin IH | 0.751 | 0.385 | 2.1E-25 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
phenotype | 0.100 | None | 1.000 | 10 | 2 | 1998 | 2011 | ||||||||
|
solute carrier family 6 member 19 | 0.695 | 0.577 | 1.8E-24 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
transmembrane protein 67 | 0.512 | 0.769 | 2.1E-24 |
|
phenotype | 0.100 | None | 1.000 | 10 | 2 | 1999 | 2016 | ||||||||
|
ATP binding cassette subfamily C member 8 | 0.474 | 0.846 | 8.0E-24 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
intraflagellar transport 140 | 0.572 | 0.692 | 9.9E-24 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
sacsin molecular chaperone | 0.606 | 0.654 | 1.1E-23 |
|
phenotype | 0.100 | None | 1.000 | 21 | 1 | 1993 | 2016 | ||||||||
|
RPGR interacting protein 1 | 0.553 | 0.654 | 1.3E-23 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
laminin subunit gamma 3 | 0.722 | 0.308 | 1.4E-23 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2011 | 2015 | ||||||||
|
WD repeat domain 62 | 0.597 | 0.615 | 2.4E-23 |
|
phenotype | 0.100 | None | 1.000 | 5 | 2 | 2010 | 2018 | ||||||||
|
phenylalanine hydroxylase | 0.516 | 0.769 | 6.4E-23 |
|
phenotype | 0.100 | None | 1.000 | 17 | 1 | 1993 | 2015 |