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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
keratin 2 | 0.760 | 0.154 | 1.3E-03 |
|
disease | 0.800 | limited | 1.000 | 15 | 12 | 1994 | 2005 | ||||||||
|
guanylate cyclase 2D, retinal | 0.570 | 0.769 | 6.5E-10 |
|
disease | 0.980 | limited | 1.000 | 14 | 4 | 1996 | 2020 | ||||||||
|
retinoschisin 1 | 0.686 | 0.500 | 0.96 |
|
disease | 0.810 | limited | 1.000 | 13 | 56 | 1997 | 2017 | ||||||||
|
peripherin 2 | 0.551 | 0.500 | 0.12 |
|
disease | 0.910 | limited | 1.000 | 11 | 18 | 1985 | 2016 | ||||||||
|
ATP binding cassette subfamily A member 1 | 0.467 | 0.846 | 1.5E-13 |
|
disease | 0.800 | limited | 0.972 | 7 | 5 | 1999 | 2017 | ||||||||
|
phosphodiesterase 6B | 0.626 | 0.346 | 2.6E-27 |
|
disease | 0.900 | limited | 1.000 | 7 | 7 | 1993 | 2016 | ||||||||
|
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | 0.529 | 0.808 | 1.00 |
|
disease | 1.000 | limited | 0.974 | 6 | 6 | 1999 | 2018 | ||||||||
|
cytochrome P450 family 11 subfamily B member 2 | 0.553 | 0.615 | 7.1E-19 |
|
disease | 0.610 | limited | 1.000 | 5 | 5 | 1992 | 2014 | ||||||||
|
myeloperoxidase | 0.377 | 0.923 | 7.1E-15 |
|
disease | 0.800 | limited | 0.824 | 5 | 3 | 1979 | 2019 | ||||||||
|
complement factor properdin | 0.573 | 0.692 | 0.69 |
|
disease | 0.700 | limited | 1.000 | 5 | 3 | 1995 | 2019 | ||||||||
|
tyrosyl-DNA phosphodiesterase 1 | 0.612 | 0.538 | 1.3E-17 |
|
disease | 0.900 | limited | 0.923 | 5 | 0 | 2002 | 2020 | ||||||||
|
peripherin 2 | 0.551 | 0.500 | 0.12 |
|
disease | 0.750 | limited | 1.000 | 5 | 6 | 1997 | 2016 | ||||||||
|
TIMP metallopeptidase inhibitor 3 | 0.445 | 0.923 | 0.63 |
|
disease | 1.000 | limited | 1.000 | 5 | 4 | 1994 | 2019 | ||||||||
|
potassium inwardly rectifying channel subfamily J member 18 | 0.722 | 0.346 |
|
disease | 0.700 | limited | 1.000 | 4 | 5 | 2010 | 2016 | |||||||||
|
zinc finger FYVE-type containing 27 | 0.805 | 0.308 | 1.1E-09 |
|
disease | 0.700 | limited | 1.000 | 4 | 1 | 2006 | 2018 | ||||||||
|
NK2 homeobox 6 | 0.695 | 0.385 | 1.9E-02 |
|
disease | 0.700 | limited | 1.000 | 4 | 1 | 2005 | 2015 | ||||||||
|
EGF containing fibulin extracellular matrix protein 1 | 0.540 | 0.769 | 1.00 |
|
disease | 1.000 | limited | 0.947 | 4 | 1 | 1999 | 2018 | ||||||||
|
glycerol-3-phosphate dehydrogenase 1 like | 0.674 | 0.308 | 3.8E-02 |
|
disease | 0.700 | limited | 1.000 | 4 | 4 | 2005 | 2009 | ||||||||
|
dynein axonemal heavy chain 1 | 0.656 | 0.615 | 1.5E-26 |
|
disease | 0.600 | limited | 1.000 | 4 | 7 | 2001 | 2018 | ||||||||
|
peripherin 2 | 0.551 | 0.500 | 0.12 |
|
disease | 0.700 | limited | 1.000 | 4 | 2 | 2006 | 2016 | ||||||||
|
peripherin 2 | 0.551 | 0.500 | 0.12 |
|
disease | 0.600 | limited | 1.000 | 4 | 9 | 1993 | 2016 | ||||||||
|
rhodopsin | 0.525 | 0.769 | 1.3E-04 |
|
disease | 0.900 | limited | 1.000 | 4 | 3 | 1993 | 2011 | ||||||||
|
semaphorin 3A | 0.500 | 0.808 | 0.98 |
|
disease | 0.600 | limited | 1.000 | 3 | 9 | 2012 | 2014 | ||||||||
|
cholesteryl ester transfer protein | 0.512 | 0.731 | 1.2E-23 |
|
disease | 0.800 | limited | 0.933 | 3 | 2 | 1990 | 2018 | ||||||||
|
tetraspanin 12 | 0.656 | 0.500 | 0.69 |
|
disease | 0.700 | limited | 1.000 | 3 | 5 | 2010 | 2012 |