| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | 0.633 | 0.692 | 1.0E-02 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 1979 | 1989 | ||||||||
|
dystrophin | 0.423 | 0.923 | 1.00 |
|
phenotype | 0.500 | None | 0.919 | 36 | 0 | 1987 | 2019 | ||||||||
|
bestrophin 1 | 0.465 | 0.885 | 1.8E-12 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 1987 | 2018 | ||||||||
|
androgen receptor | 0.351 | 0.846 | 0.99 |
|
phenotype | 0.040 | None | 1.000 | 4 | 0 | 1992 | 2014 | ||||||||
|
acetylcholinesterase (Cartwright blood group) | 0.445 | 0.885 | 1.00 |
|
phenotype | 0.030 | None | 1.000 | 3 | 0 | 1992 | 2019 | ||||||||
|
superoxide dismutase 1 | 0.379 | 0.962 | 0.18 |
|
phenotype | 0.170 | None | 1.000 | 7 | 2 | 1994 | 2017 | ||||||||
|
maltase-glucoamylase | 0.592 | 0.615 | 1.0E-35 |
|
phenotype | 0.050 | None | 1.000 | 5 | 0 | 1995 | 2018 | ||||||||
|
sucrase-isomaltase | 0.569 | 0.692 | 3.9E-60 |
|
phenotype | 0.050 | None | 1.000 | 5 | 0 | 1995 | 2018 | ||||||||
|
ataxin 1 | 0.534 | 0.769 | 0.97 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1995 | 1995 | ||||||||
|
survival of motor neuron 1, telomeric | 0.454 | 0.769 | 1.6E-02 |
|
phenotype | 0.200 | None | 0.938 | 16 | 0 | 1996 | 2019 | ||||||||
|
survival of motor neuron 2, centromeric | 0.459 | 0.769 | 0.10 |
|
phenotype | 0.100 | None | 0.917 | 12 | 1 | 1996 | 2019 | ||||||||
|
SNRPN upstream reading frame | 0.623 | 0.538 | 0.46 |
|
phenotype | 0.090 | None | 1.000 | 9 | 0 | 1996 | 2019 | ||||||||
|
small nuclear ribonucleoprotein polypeptide N | 0.538 | 0.731 | 4.3E-02 |
|
phenotype | 0.090 | None | 1.000 | 9 | 0 | 1996 | 2019 | ||||||||
|
stathmin 1 | 0.458 | 0.885 | 7.5E-02 |
|
phenotype | 0.090 | None | 1.000 | 9 | 0 | 1996 | 2019 | ||||||||
|
peripheral myelin protein 22 | 0.471 | 0.885 | 0.91 |
|
phenotype | 0.440 | None | 1.000 | 4 | 0 | 1996 | 2019 | ||||||||
|
kinesin family member 1B | 0.516 | 0.808 | 1.00 |
|
phenotype | 0.030 | None | 1.000 | 3 | 0 | 1997 | 2018 | ||||||||
|
sodium voltage-gated channel alpha subunit 8 | 0.510 | 0.731 | 1.00 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1997 | 1997 | ||||||||
|
mitofusin 2 | 0.471 | 0.846 | 0.99 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1997 | 1997 | ||||||||
|
hexosaminidase subunit alpha | 0.633 | 0.615 | 1.3E-11 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1997 | 1997 | ||||||||
|
major histocompatibility complex, class II, DQ alpha 1 | 0.416 | 0.846 | 2.4E-02 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1998 | 1998 | ||||||||
|
amyloid beta precursor protein | 0.422 | 0.846 | 4.7E-02 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1998 | 1998 | ||||||||
|
MET proto-oncogene, receptor tyrosine kinase | 0.380 | 0.846 | 0.97 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1998 | 1998 | ||||||||
|
RNA guanine-7 methyltransferase | 0.647 | 0.500 | 5.7E-05 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1999 | 1999 | ||||||||
|
myelin protein zero | 0.503 | 0.846 | 0.27 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 1999 | 1999 | ||||||||
|
desmin | 0.460 | 0.846 | 8.8E-03 |
|
phenotype | 0.190 | None | 1.000 | 9 | 3 | 2000 | 2017 |