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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
long intergenic non-protein coding RNA 624 | 1.000 | 0.077 |
|
phenotype | 0.100 | None | 0 | 1 | ||||||||||||
|
NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 |
|
phenotype | 0.100 | None | 0 | 2 | ||||||||||||
|
PTCHD1 antisense RNA (head to head) | 0.839 | 0.308 |
|
phenotype | 0.100 | None | 0 | 1 | ||||||||||||
|
AQP4 antisense RNA 1 | 0.751 | 0.577 |
|
phenotype | 0.100 | None | 0 | 1 | ||||||||||||
|
H2A.P histone |
|
phenotype | 0.100 | None | 0 | 1 | ||||||||||||||
|
FLG antisense RNA 1 | 0.700 | 0.538 |
|
phenotype | 0.100 | None | 0 | 1 | ||||||||||||
|
tRNA | 0.534 | 0.731 |
|
phenotype | 0.100 | None | 0 | 1 | ||||||||||||
|
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | 0.736 | 0.538 | 1.9E-164 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
usherin | 0.579 | 0.692 | 1.6E-94 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
leucine zipper like transcription regulator 1 | 0.547 | 0.808 | 1.0E-92 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2018 | 2018 | ||||||||
|
ROS proto-oncogene 1, receptor tyrosine kinase | 0.439 | 0.885 | 1.6E-72 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
dynein axonemal heavy chain 17 | 0.839 | 0.154 | 2.0E-63 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
myosin heavy chain 7B | 0.792 | 0.308 | 4.3E-46 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
collagen type VII alpha 1 chain | 0.545 | 0.808 | 2.4E-40 |
|
phenotype | 0.100 | None | 0 | 4 | |||||||||||
|
chromodomain helicase DNA binding protein 1 like | 0.631 | 0.577 | 1.0E-36 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
carboxypeptidase Z | 0.839 | 0.154 | 8.8E-36 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
WRN RecQ like helicase | 0.524 | 0.808 | 2.6E-34 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ryanodine receptor 1 | 0.489 | 0.808 | 1.6E-29 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
obscurin like cytoskeletal adaptor 1 | 0.686 | 0.308 | 1.0E-25 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2019 | 2019 | ||||||||
|
inter-alpha-trypsin inhibitor heavy chain family member 6 | 1.5E-24 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||||
|
ATP binding cassette subfamily C member 8 | 0.474 | 0.846 | 8.0E-24 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
RNA polymerase III subunit B | 0.628 | 0.654 | 1.7E-23 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
thyroid peroxidase | 0.455 | 0.846 | 1.8E-21 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
cullin 7 | 0.633 | 0.500 | 2.6E-21 |
|
phenotype | 0.100 | None | 1.000 | 1 | 5 | 2019 | 2019 |