| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
paired like homeodomain 2 | 0.489 | 0.808 | 0.98 |
|
phenotype | 0.400 | None | 0 | 0 | |||||||||||
|
biotinidase | 0.628 | 0.654 | 1.5E-07 |
|
phenotype | 0.400 | None | 0 | 0 | |||||||||||
|
ribosomal protein S6 kinase A3 | 0.491 | 0.846 | 1.00 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
abhydrolase domain containing 5 | 0.641 | 0.538 | 6.4E-07 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
CDGSH iron sulfur domain 2 | 0.590 | 0.692 | 0.42 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
myosin IA | 0.769 | 0.269 | 8.9E-46 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
arylsulfatase B | 0.595 | 0.692 | 7.0E-09 |
|
phenotype | 0.400 | None | 0 | 0 | |||||||||||
|
fibroblast growth factor 3 | 0.505 | 0.808 | 9.3E-05 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 1987 | 1987 | ||||||||
|
cadherin related 23 | 0.539 | 0.769 | 3.2E-06 |
|
phenotype | 0.470 | strong | 1.000 | 1 | 0 | 1989 | 2019 | ||||||||
|
FA complementation group C | 0.507 | 0.808 | 2.8E-13 |
|
phenotype | 0.400 | strong | 1.000 | 2 | 0 | 1992 | 2006 | ||||||||
|
radixin | 0.593 | 0.615 | 0.85 |
|
phenotype | 0.310 | strong | 1.000 | 1 | 0 | 1993 | 2007 | ||||||||
|
collagen type IV alpha 5 chain | 0.553 | 0.654 | 1.00 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 0 | 1995 | 1997 | ||||||||
|
POU class 3 homeobox 4 | 0.633 | 0.654 | 0.57 |
|
phenotype | 0.420 | strong | 1.000 | 1 | 0 | 1995 | 2009 | ||||||||
|
serpin family B member 6 | 0.547 | 0.769 | 1.1E-04 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 1995 | 1995 | ||||||||
|
FA complementation group A | 0.505 | 0.731 | 1.6E-68 |
|
phenotype | 0.400 | strong | 1.000 | 2 | 0 | 1996 | 2006 | ||||||||
|
phosphoribosyl pyrophosphate synthetase 1 | 0.584 | 0.731 | 0.92 |
|
phenotype | 0.450 | strong | 1.000 | 1 | 0 | 1996 | 2015 | ||||||||
|
translocase of inner mitochondrial membrane 8A | 0.510 | 0.846 | 0.65 |
|
phenotype | 0.310 | strong | 1.000 | 1 | 0 | 1996 | 2003 | ||||||||
|
small muscle protein X-linked | 0.682 | 0.500 | 0.62 |
|
phenotype | 0.330 | strong | 1.000 | 1 | 0 | 1996 | 2017 | ||||||||
|
actin gamma 1 | 0.477 | 0.846 | 4.8E-03 |
|
phenotype | 0.430 | strong | 1.000 | 1 | 0 | 1996 | 2009 | ||||||||
|
crystallin mu | 0.769 | 0.346 | 2.6E-02 |
|
phenotype | 0.310 | limited | 1.000 | 1 | 0 | 1997 | 2003 | ||||||||
|
estrogen related receptor beta | 0.565 | 0.846 | 0.13 |
|
phenotype | 0.320 | strong | 1.000 | 1 | 0 | 1997 | 2014 | ||||||||
|
dentin sialophosphoprotein | 0.556 | 0.769 | 1.1E-07 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 1997 | 1997 | ||||||||
|
GIPC PDZ domain containing family member 3 | 0.780 | 0.231 | 9.3E-03 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 1997 | 1997 | ||||||||
|
FA complementation group G | 0.556 | 0.769 | 2.5E-14 |
|
phenotype | 0.400 | strong | 1.000 | 2 | 0 | 1998 | 2006 | ||||||||
|
usherin | 0.579 | 0.692 | 1.6E-94 |
|
phenotype | 0.480 | strong | 1.000 | 1 | 0 | 1998 | 2019 |