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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
notch receptor 2 | 0.441 | 0.808 | 1.00 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
cytochrome P450 family 1 subfamily A member 1 | 0.436 | 0.846 | 1.1E-17 |
|
phenotype | 0.010 | None | < 0.001 | 1 | 0 | 1984 | 1984 | ||||||||
|
MYC proto-oncogene, bHLH transcription factor | 0.344 | 0.923 | 1.00 |
|
phenotype | 0.070 | None | 1.000 | 7 | 0 | 1985 | 2016 | ||||||||
|
colony stimulating factor 2 | 0.330 | 0.962 | 0.83 |
|
phenotype | 0.070 | None | 1.000 | 7 | 0 | 1987 | 2019 | ||||||||
|
erb-b2 receptor tyrosine kinase 2 | 0.328 | 0.923 | 6.0E-03 |
|
phenotype | 0.100 | None | 1.000 | 48 | 0 | 1989 | 2020 | ||||||||
|
catenin delta 1 | 0.500 | 0.808 | 1.00 |
|
phenotype | 0.030 | None | 0.667 | 3 | 0 | 1990 | 2018 | ||||||||
|
interferon beta 1 | 0.421 | 0.846 |
|
phenotype | 0.030 | None | 1.000 | 3 | 0 | 1990 | 1998 | |||||||||
|
parathyroid hormone like hormone | 0.453 | 0.846 | 0.81 |
|
phenotype | 0.030 | None | 1.000 | 3 | 0 | 1990 | 2020 | ||||||||
|
TMX2-CTNND1 readthrough (NMD candidate) | 0.538 | 0.769 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 1990 | 2004 | |||||||||
|
chromosome segregation 1 like | 0.521 | 0.808 | 1.00 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 1990 | 2004 | ||||||||
|
BCAR1 scaffold protein, Cas family member | 0.518 | 0.846 | 1.00 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 1990 | 2004 | ||||||||
|
tumor protein p53 | 0.236 | 0.962 | 0.53 |
|
phenotype | 0.100 | None | 0.959 | 49 | 3 | 1991 | 2019 | ||||||||
|
MET proto-oncogene, receptor tyrosine kinase | 0.380 | 0.846 | 0.97 |
|
phenotype | 0.100 | None | 1.000 | 15 | 0 | 1991 | 2020 | ||||||||
|
MYCN proto-oncogene, bHLH transcription factor | 0.454 | 0.808 | 0.89 |
|
phenotype | 0.040 | None | 1.000 | 4 | 0 | 1991 | 2015 | ||||||||
|
ankyrin 1 | 0.540 | 0.885 | 1.00 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1991 | 1991 | ||||||||
|
synuclein alpha interacting protein | 0.691 | 0.423 | 3.3E-04 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1991 | 1991 | ||||||||
|
KIT proto-oncogene, receptor tyrosine kinase | 0.366 | 0.808 | 0.98 |
|
phenotype | 0.100 | None | 1.000 | 12 | 0 | 1992 | 2018 | ||||||||
|
C-type lectin domain family 3 member B | 0.729 | 0.308 | 2.1E-03 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1992 | 1992 | ||||||||
|
ATP binding cassette subfamily B member 1 | 0.344 | 0.885 | 1.3E-05 |
|
phenotype | 0.100 | None | 1.000 | 15 | 0 | 1993 | 2020 | ||||||||
|
CD44 molecule (Indian blood group) | 0.363 | 0.962 | 2.4E-07 |
|
phenotype | 0.090 | None | 1.000 | 9 | 0 | 1993 | 2018 | ||||||||
|
MDM2 proto-oncogene | 0.362 | 0.846 | 1.00 |
|
phenotype | 0.080 | None | 1.000 | 8 | 1 | 1993 | 2019 | ||||||||
|
ABL proto-oncogene 1, non-receptor tyrosine kinase | 0.432 | 0.923 | 1.00 |
|
phenotype | 0.040 | None | 0.750 | 4 | 0 | 1993 | 2016 | ||||||||
|
NME/NM23 nucleoside diphosphate kinase 1 | 0.443 | 0.808 | 3.2E-03 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1993 | 1993 | ||||||||
|
paired box 3 | 0.481 | 0.769 | 0.24 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1993 | 1993 | ||||||||
|
interleukin 2 | 0.336 | 0.885 | 0.48 |
|
phenotype | 0.100 | None | 1.000 | 14 | 0 | 1994 | 2019 |