Gene | UniProt | Gene Full Name | Protein Class | N. diseases g | DSI g | DPI g | pLI | Score gda | EL gda | EI gda | N. PMIDs | N. SNPs gda | First Ref. | Last Ref. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Q7Z4L5 | tetratricopeptide repeat domain 21B | 76 | 0.619 | 0.654 | 2.7E-26 | 0.300 | None | 1.000 | 1 | 0 | 2011 | 2011 | |||||
|
asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome) | 36 | 0.656 | 0.731 | 0.300 | None | 0 | 0 | ||||||||||
|
Q96RY7 | intraflagellar transport 140 | Cellular structure | 124 | 0.572 | 0.692 | 9.9E-24 | 0.200 | None | 1.000 | 2 | 0 | 2013 | 2013 | ||||
|
Q8TAM1 | Bardet-Biedl syndrome 10 | 63 | 0.644 | 0.538 | 1.7E-12 | 0.100 | None | 0 | 1 | ||||||||
|
Q8NCM8 | dynein cytoplasmic 2 heavy chain 1 | Enzyme | 136 | 0.555 | 0.731 | 1.1E-44 | 0.100 | None | 0 | 1 | |||||||
|
Q8TCX1 | dynein cytoplasmic 2 light intermediate chain 1 | Cellular structure | 97 | 0.601 | 0.500 | 3.2E-09 | 0.100 | None | 0 | 5 | |||||||
|
Q96PY6 | NIMA related kinase 1 | Kinase | 131 | 0.575 | 0.769 | 1.9E-25 | 0.100 | None | 0 | 1 | |||||||
|
Q8WW35 | Tctex1 domain containing 2 | Cellular structure | 19 | 0.751 | 0.346 | 3.2E-04 | 0.100 | None | 0 | 1 | |||||||
|
Q8N2U0 | transmembrane protein 256 | Enzyme | 10 | 0.861 | 0.154 | 6.1E-04 | 0.100 | None | 0 | 1 | |||||||
|
Q17RN3 | family with sequence similarity 98 member C | 7 | 0.931 | 0.115 | 1.1E-07 | 0.100 | None | 0 | 1 | ||||||||
|
TMEM256-PLSCR3 readthrough (NMD candidate) | 11 | 0.861 | 0.154 | 5.9E-03 | 0.100 | None | 0 | 1 |