| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
translocase of inner mitochondrial membrane 50 | 0.678 | 0.500 | 1.8E-03 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 2000 | 2017 | ||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1999 | 2016 | ||||||||
|
transmembrane protein 67 | 0.512 | 0.769 | 2.1E-24 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1999 | 2016 | ||||||||
|
nucleotide binding protein like | 0.670 | 0.423 | 1.1E-05 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1999 | 2013 | ||||||||
|
SIN3 transcription regulator family member A | 0.551 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1998 | 2016 | ||||||||
|
peptidase, mitochondrial processing subunit alpha | 0.633 | 0.577 | 3.4E-11 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1998 | 2016 | ||||||||
|
dynein cytoplasmic 1 heavy chain 1 | 0.547 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1998 | 2018 | ||||||||
|
mucolipin 1 | 0.601 | 0.654 | 5.8E-04 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1998 | 2016 | ||||||||
|
potassium voltage-gated channel subfamily H member 1 | 0.542 | 0.731 | 0.55 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1998 | 2016 | ||||||||
|
potassium voltage-gated channel subfamily Q member 3 | 0.604 | 0.462 | 0.80 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1998 | 2016 | ||||||||
|
myelin protein zero | 0.503 | 0.846 | 0.27 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 1998 | 2015 | ||||||||
|
syntaxin binding protein 1 | 0.532 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1998 | 2016 | ||||||||
|
SURF1 cytochrome c oxidase assembly factor | 0.578 | 0.654 | 1.6E-13 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1998 | 2016 | ||||||||
|
biotinidase | 0.628 | 0.654 | 1.5E-07 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1998 | 2017 | ||||||||
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1998 | 2015 | ||||||||
|
NPC intracellular cholesterol transporter 1 | 0.518 | 0.692 | 6.5E-06 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1997 | 2012 | ||||||||
|
phosphomannomutase 2 | 0.535 | 0.769 | 1.4E-17 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1997 | 2017 | ||||||||
|
gamma-aminobutyric acid type A receptor subunit alpha1 | 0.563 | 0.577 | 0.91 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1997 | 2016 | ||||||||
|
aldehyde dehydrogenase 7 family member A1 | 0.551 | 0.769 | 1.4E-22 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1996 | 2013 | ||||||||
|
peroxisomal biogenesis factor 6 | 0.547 | 0.731 | 6.3E-06 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1996 | 2016 | ||||||||
|
patched 1 | 0.398 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1996 | 2016 | ||||||||
|
sodium voltage-gated channel alpha subunit 8 | 0.510 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1995 | 2017 | ||||||||
|
pyruvate dehydrogenase E1 subunit alpha 1 | 0.581 | 0.538 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1995 | 2016 | ||||||||
|
NK2 homeobox 1 | 0.457 | 0.808 | 0.36 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1995 | 2017 | ||||||||
|
structural maintenance of chromosomes 1A | 0.509 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1995 | 2017 |