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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
protocadherin related 15 | 0.601 | 0.577 | 8.0E-25 |
|
disease | 0.440 | limited | 1.000 | 20 | 0 | 2001 | 2017 | ||||||||
|
myosin light chain 3 | 0.695 | 0.308 | 8.8E-02 |
|
disease | 0.480 | definitive | 0.970 | 19 | 0 | 1993 | 2018 | ||||||||
|
myosin light chain 2 | 0.601 | 0.615 | 2.7E-08 |
|
disease | 0.700 | definitive | 1.000 | 18 | 0 | 1980 | 2019 | ||||||||
|
tyrosine hydroxylase | 0.462 | 0.885 | 1.7E-06 |
|
disease | 0.720 | definitive | 1.000 | 18 | 0 | 1964 | 2018 | ||||||||
|
actin gamma 1 | 0.477 | 0.846 | 4.8E-03 |
|
disease | 0.330 | definitive | 1.000 | 18 | 0 | 2003 | 2018 | ||||||||
|
tropomyosin 1 | 0.560 | 0.615 | 1.0E-03 |
|
disease | 0.500 | definitive | 0.986 | 18 | 0 | 1993 | 2019 | ||||||||
|
coagulation factor V | 0.441 | 0.846 | 5.9E-15 |
|
disease | 0.730 | definitive | 1.000 | 17 | 0 | 1988 | 2018 | ||||||||
|
tectorin alpha | 0.700 | 0.385 | 3.0E-16 |
|
disease | 0.330 | definitive | 1.000 | 17 | 0 | 1998 | 2017 | ||||||||
|
glucosidase alpha, acid | 0.631 | 0.577 | 2.8E-18 |
|
disease | 1.000 | definitive | 0.994 | 16 | 0 | 1965 | 2019 | ||||||||
|
glucosidase alpha, acid | 0.631 | 0.577 | 2.8E-18 |
|
disease | 0.300 | definitive | 1.000 | 16 | 0 | 1965 | 2011 | ||||||||
|
gap junction protein beta 3 | 0.621 | 0.462 | 2.2E-03 |
|
disease | 0.900 | strong | 0.967 | 16 | 0 | 1998 | 2019 | ||||||||
|
forkhead box P1 | 0.460 | 0.808 | 1.00 |
|
disease | 0.500 | definitive | 1.000 | 16 | 0 | 2003 | 2018 | ||||||||
|
asparagine synthetase (glutamine-hydrolyzing) | 0.595 | 0.692 | 9.4E-06 |
|
disease | 0.730 | definitive | 1.000 | 16 | 0 | 1968 | 2019 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
disease | 0.700 | moderate | 1.000 | 16 | 0 | 2000 | 2018 | ||||||||
|
spermine synthase | 0.491 | 0.846 | 0.97 |
|
disease | 0.800 | definitive | 1.000 | 16 | 0 | 1969 | 2019 | ||||||||
|
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | 0.534 | 0.769 | 1.00 |
|
disease | 0.300 | definitive | 1.000 | 15 | 0 | 2008 | 2017 | ||||||||
|
collagen type XI alpha 2 chain | 0.435 | 0.846 | 0.70 |
|
disease | 0.820 | definitive | 1.000 | 15 | 0 | 1964 | 2015 | ||||||||
|
collagen type XI alpha 2 chain | 0.435 | 0.846 | 0.70 |
|
disease | 1.000 | definitive | 1.000 | 15 | 0 | 1964 | 2015 | ||||||||
|
FMRP translational regulator 1 | 0.473 | 0.769 | 0.65 |
|
disease | 1.000 | definitive | 0.985 | 15 | 0 | 1991 | 2020 | ||||||||
|
glycoprotein IX platelet | 0.695 | 0.500 | 0.48 |
|
disease | 0.800 | definitive | 0.981 | 15 | 0 | 1983 | 2019 | ||||||||
|
mutY DNA glycosylase | 0.521 | 0.769 | 1.3E-18 |
|
disease | 0.710 | definitive | 1.000 | 15 | 0 | 1987 | 2018 | ||||||||
|
protein kinase AMP-activated non-catalytic subunit gamma 2 | 0.582 | 0.654 | 1.00 |
|
disease | 0.500 | definitive | 1.000 | 15 | 0 | 1995 | 2019 | ||||||||
|
POU class 4 homeobox 3 | 0.700 | 0.538 | 0.92 |
|
disease | 0.360 | definitive | 1.000 | 15 | 0 | 1996 | 2018 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
disease | 0.600 | definitive | 0.983 | 15 | 0 | 2000 | 2017 | ||||||||
|
CCAAT enhancer binding protein alpha | 0.496 | 0.692 | 0.55 |
|
disease | 1.000 | definitive | 0.985 | 14 | 0 | 1992 | 2020 |