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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
mediator complex subunit 13 | 0.711 | 0.538 | 1.00 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 1 | 2018 | 2018 | ||||||||
|
laminin subunit alpha 2 | 0.553 | 0.692 | 2.4E-47 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
pleckstrin homology domain interacting protein | 0.595 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 4 | |||||||||||
|
ASXL transcriptional regulator 2 | 0.617 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
VPS11 core subunit of CORVET and HOPS complexes | 0.633 | 0.654 | 1.9E-05 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
histone deacetylase 8 | 0.511 | 0.885 | 0.98 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
zinc finger MIZ-type containing 1 | 0.588 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
mucolipin 1 | 0.601 | 0.654 | 5.8E-04 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
proline rich 12 | 0.716 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
protocadherin 19 | 0.599 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
purine rich element binding protein A | 0.644 | 0.500 | 0.94 |
|
phenotype | 0.100 | None | 0 | 11 | |||||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
glutamine rich 1 | 0.716 | 0.423 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
transmembrane and coiled-coil domains 1 | 0.588 | 0.654 | 9.4E-10 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
phenotype | 0.100 | None | 0 | 4 | |||||||||||
|
myocyte enhancer factor 2C | 0.517 | 0.769 | 1.7E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
melanocyte inducing transcription factor | 0.499 | 0.808 | 0.98 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
lysine methyltransferase 2A | 0.410 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
arginine-glutamic acid dipeptide repeats | 0.526 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ATPase Na+/K+ transporting subunit alpha 3 | 0.544 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 | 0.599 | 0.654 | 2.3E-06 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
lysine methyltransferase 5B | 0.736 | 0.423 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ring finger protein, LIM domain interacting | 0.686 | 0.500 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 |