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.
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 28 0.626 0.538 0.74 0.100 None 1.000 1 1 2017 2017
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3
P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 5 0.566 0.692 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 69 0.663 0.577 0.100 None 0 2
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3
Q96FM1 post-GPI attachment to proteins phospholipase 3 18 0.628 0.731 1.9E-03 0.100 None 0 1
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 54 0.610 0.577 1.4E-06 0.100 None 0 1
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
O60733 phospholipase A2 group VI Enzyme modulator 49 0.476 0.846 2.5E-10 0.100 None 0 1
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 62 0.582 0.731 2.5E-04 0.100 None 0 2
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
P47897 glutaminyl-tRNA synthetase 1 Enzyme 12 0.716 0.231 2.7E-13 0.100 None 0 2
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
Q13635 patched 1 116 0.398 0.885 1.00 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 26 0.588 0.577 0.98 0.100 None 0 1
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A
Q9H165 BAF chromatin remodeling complex subunit BCL11A Transcription factor 9 0.541 0.769 0.97 0.100 None 0 1
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
O15553 MEFV innate immuity regulator, pyrin 23 0.440 0.885 1.0E-14 0.100 None 0 1
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
Q9H334 forkhead box P1 21 0.460 0.808 1.00 0.100 None 0 1
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
P42345 mechanistic target of rapamycin kinase Kinase 86 0.343 0.885 1.00 0.100 None 0 1
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
Q9UPW5 ATP/GTP binding protein 1 Enzyme 25 0.650 0.538 0.42 0.100 None 0 2
Entrez Id: 112939
Gene Symbol: NACC1
NACC1
Q96RE7 nucleus accumbens associated 1 34 0.610 0.577 1.00 0.100 None 0 1
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
Q8TEA7 TBC1 domain containing kinase Kinase 47 0.650 0.654 2.1E-15 0.100 None 0 1