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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
P51816 | AF4/FMR2 family member 2 | Transcription factor | 66 | 0.636 | 0.538 | 1.00 | 0.740 | definitive | 1.000 | 13 | 1 | 1993 | 2013 | ||||
|
Q06787 | FMRP translational regulator 1 | Nucleic acid binding | 346 | 0.473 | 0.769 | 0.65 | 0.310 | None | 1.000 | 9 | 0 | 1999 | 2017 | ||||
|
P05067 | amyloid beta precursor protein | Enzyme modulator | 485 | 0.422 | 0.846 | 4.7E-02 | 0.300 | None | 1.000 | 1 | 0 | 2011 | 2011 | ||||
|
P01009 | serpin family A member 1 | Enzyme modulator | 482 | 0.410 | 0.923 | 6.8E-08 | 0.100 | None | 0 | 1 | |||||||
|
fragile site, folic acid type, rare, fra(X)(q28) E | 50 | 0.636 | 0.462 | 0.060 | None | 1.000 | 6 | 0 | 1997 | 2011 | |||||||
|
Q9UNN4 | general transcription factor IIA subunit 1 like | Transcription factor | 37 | 0.678 | 0.385 | 2.8E-11 | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 | ||||
|
Q9Y6Q2 | STON1-GTF2A1L readthrough | 40 | 0.682 | 0.385 | 1.5E-22 | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 | |||||
|
fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) | 50 | 0.641 | 0.462 | 0.010 | None | 1.000 | 1 | 0 | 1996 | 1996 | |||||||
|
P43652 | afamin | Transporter | 86 | 0.590 | 0.731 | 4.3E-19 | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 | ||||
|
Q9Y6Q2 | stonin 1 | Extracellular structure | 27 | 0.729 | 0.308 | 1.5E-11 | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 | ||||
|
Q2LD37 | KIAA1109 | 86 | 0.603 | 0.654 | 3.3E-21 | 0.010 | None | 1.000 | 1 | 0 | 2001 | 2001 |