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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
SON DNA binding protein | 0.565 | 0.769 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 5 | 2016 | 2016 | ||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
disease | 0.100 | None | 1.000 | 6 | 4 | 2001 | 2018 | ||||||||
|
bromodomain PHD finger transcription factor | 0.560 | 0.769 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 3 | 2017 | 2017 | ||||||||
|
G protein subunit beta 1 | 0.617 | 0.731 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 3 | 2016 | 2016 | ||||||||
|
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | 0.610 | 0.808 | 3.6E-19 |
|
disease | 0.100 | None | 0 | 3 | |||||||||||
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 | 0.700 | 0.385 | 6.5E-05 |
|
disease | 0.100 | None | 0 | 3 | |||||||||||
|
ubiquitin like modifier activating enzyme 5 | 0.582 | 0.731 | 2.5E-04 |
|
disease | 0.110 | None | 1.000 | 0 | 3 | 2018 | 2018 | ||||||||
|
NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 |
|
disease | 0.100 | None | 0 | 3 | ||||||||||||
|
KRAS proto-oncogene, GTPase | 0.320 | 0.923 | 7.9E-04 |
|
disease | 0.100 | None | 1.000 | 3 | 2 | 2006 | 2011 | ||||||||
|
malate dehydrogenase 2 | 0.595 | 0.731 | 6.7E-03 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2017 | 2017 | ||||||||
|
carnitine O-acetyltransferase | 0.656 | 0.577 | 9.5E-12 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2020 | 2020 | ||||||||
|
THO complex 6 | 0.705 | 0.577 | 4.8E-04 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
peptidase, mitochondrial processing subunit alpha | 0.633 | 0.577 | 3.4E-11 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
cytoplasmic linker associated protein 1 | 0.751 | 0.500 | 1.00 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
phosphomannomutase 2 | 0.535 | 0.769 | 1.4E-17 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
peroxisomal biogenesis factor 6 | 0.547 | 0.731 | 6.3E-06 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
solute carrier family 26 member 4 | 0.507 | 0.885 | 9.0E-22 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | 0.656 | 0.423 | 1.6E-08 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
translocase of inner mitochondrial membrane 50 | 0.678 | 0.500 | 1.8E-03 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
RNA, U4atac small nuclear (U12-dependent splicing) | 0.556 | 0.808 |
|
disease | 0.100 | None | 0 | 2 | ||||||||||||
|
WD repeat domain 26 | 0.606 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
component of oligomeric golgi complex 7 | 0.686 | 0.500 | 2.6E-07 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
NPC intracellular cholesterol transporter 2 | 0.612 | 0.769 | 1.8E-03 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
collagen type VII alpha 1 chain | 0.545 | 0.808 | 2.4E-40 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
Raf-1 proto-oncogene, serine/threonine kinase | 0.418 | 0.885 | 0.85 |
|
disease | 0.100 | None | 1.000 | 2 | 1 | 2007 | 2007 |