Source: CLINVAR
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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
neuropilin 2 | 0.539 | 0.615 | 8.1E-04 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
BCL6 corepressor | 0.471 | 0.808 | 1.00 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 | 0.572 | 0.769 | 1.00 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
activator of transcription and developmental regulator AUTS2 | 0.569 | 0.846 | 1.00 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
NADH:ubiquinone oxidoreductase subunit B3 | 0.705 | 0.538 | 1.6E-05 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
recombination signal binding protein for immunoglobulin kappa J region | 0.518 | 0.808 | 1.00 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
mitochondrial translational initiation factor 2 | 1.000 | 3.7E-10 |
|
group | 0.100 | None | 0 | 1 | ||||||||||||
|
PHD finger protein 6 | 0.581 | 0.692 | 1.00 |
|
group | 0.100 | None | 1.000 | 6 | 1 | 1962 | 2016 | ||||||||
|
E1A binding protein p300 | 0.459 | 0.846 | 1.00 |
|
group | 0.100 | None | 1.000 | 19 | 1 | 1963 | 2016 | ||||||||
|
CREB binding protein | 0.428 | 0.808 | 1.00 |
|
group | 0.100 | None | 1.000 | 18 | 3 | 1963 | 2017 | ||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
group | 0.100 | None | 1.000 | 34 | 2 | 1967 | 2017 | ||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
group | 0.100 | None | 1.000 | 20 | 4 | 1968 | 2016 | ||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
group | 0.100 | None | 1.000 | 8 | 2 | 1968 | 2013 | ||||||||
|
RNA binding motif protein 10 | 0.599 | 0.615 | 1.00 |
|
group | 0.100 | None | 1.000 | 6 | 2 | 1970 | 2017 | ||||||||
|
mediator complex subunit 13L | 0.617 | 0.538 | 1.00 |
|
group | 0.100 | None | 1.000 | 16 | 3 | 1971 | 2018 | ||||||||
|
collagen type XI alpha 2 chain | 0.435 | 0.846 | 0.70 |
|
group | 0.100 | None | 1.000 | 17 | 1 | 1975 | 2012 | ||||||||
|
transient receptor potential cation channel subfamily V member 4 | 0.457 | 0.808 | 2.2E-16 |
|
group | 0.100 | None | 1.000 | 24 | 2 | 1976 | 2017 | ||||||||
|
clathrin heavy chain | 0.558 | 0.769 | 1.00 |
|
group | 0.100 | None | 1.000 | 23 | 1 | 1976 | 2017 | ||||||||
|
peptidyl-tRNA hydrolase 2 | 0.641 | 0.577 | 6.4E-04 |
|
group | 0.100 | None | 1.000 | 23 | 1 | 1976 | 2017 | ||||||||
|
collagen type I alpha 2 chain | 0.486 | 0.846 | 1.00 |
|
group | 0.100 | None | 1.000 | 16 | 2 | 1979 | 2018 | ||||||||
|
APC membrane recruitment protein 1 | 0.570 | 0.654 | 0.85 |
|
group | 0.100 | None | 1.000 | 8 | 1 | 1980 | 2017 | ||||||||
|
kinesin family member 7 | 0.528 | 0.731 | 2.3E-22 |
|
group | 0.100 | None | 1.000 | 8 | 1 | 1980 | 2015 | ||||||||
|
aladin WD repeat nucleoporin | 0.601 | 0.654 | 2.4E-13 |
|
group | 0.100 | None | 1.000 | 6 | 1 | 1980 | 2015 | ||||||||
|
mannosidase alpha class 2B member 1 | 0.674 | 0.462 | 4.8E-22 |
|
group | 0.100 | None | 1.000 | 6 | 2 | 1981 | 2015 | ||||||||
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 1.00 |
|
group | 0.100 | None | 1.000 | 21 | 5 | 1984 | 2017 |