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: 57479
Gene Symbol: PRR12
PRR12
Q9ULL5 proline rich 12 35 0.716 0.385 1.00 0.400 strong 1.000 1 3 2018 2018
Entrez Id: 9488
Gene Symbol: PIGB
PIGB
Q92521 phosphatidylinositol glycan anchor biosynthesis class B Enzyme 12 0.839 0.038 3.9E-11 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 7360
Gene Symbol: UGP2
UGP2
Q16851 UDP-glucose pyrophosphorylase 2 26 0.711 0.308 1.4E-08 0.300 None 1.000 1 0 2020 2020
Entrez Id: 1024
Gene Symbol: CDK8
CDK8
P49336 cyclin dependent kinase 8 Kinase 82 0.597 0.654 0.41 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
Q8N0W3 fucose kinase Kinase 22 0.769 0.192 1.0E-29 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 84148
Gene Symbol: KAT8
KAT8
Q9H7Z6 lysine acetyltransferase 8 80 0.592 0.654 0.22 0.300 None 1.000 1 0 2020 2020
Entrez Id: 4763
Gene Symbol: NF1
NF1
P21359 neurofibromin 1 Enzyme modulator 380 0.440 0.885 0.90 0.100 None 0 1
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
P49810 presenilin 2 Enzyme 146 0.550 0.654 5.4E-04 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
P49768 presenilin 1 Enzyme 369 0.469 0.846 0.97 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
Q8NFD5 AT-rich interaction domain 1B 270 0.503 0.846 1.00 0.100 None 0 0
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
P32322 pyrroline-5-carboxylate reductase 1 126 0.570 0.654 2.0E-04 0.100 None 0 0
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
Q16518 retinoid isomerohydrolase RPE65 Enzyme 431 0.417 0.808 6.5E-14 0.100 None 0 1
Entrez Id: 6247
Gene Symbol: RS1
RS1
O15537 retinoschisin 1 Enzyme 43 0.686 0.500 0.96 0.100 None 0 0
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
Q9NSC2 spalt like transcription factor 1 Transcription factor 156 0.539 0.808 1.00 0.100 None 0 0
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 232 0.518 0.731 1.00 0.100 None 0 0
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
Q9NY46 sodium voltage-gated channel alpha subunit 3 Ion channel 88 0.617 0.538 1.00 0.100 None 0 0
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 302 0.510 0.731 1.00 0.100 None 0 0
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
P36507 mitogen-activated protein kinase kinase 2 Kinase 177 0.534 0.731 0.97 0.100 None 0 0
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Q02750 mitogen-activated protein kinase kinase 1 Kinase 389 0.439 0.846 0.90 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 0.100 None 0 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
P01111 NRAS proto-oncogene, GTPase Enzyme modulator 611 0.390 0.808 0.49 0.100 None 0 0
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
Q16620 neurotrophic receptor tyrosine kinase 2 Kinase 284 0.479 0.808 1.00 0.100 None 0 0
Entrez Id: 5032
Gene Symbol: P2RY11
P2RY11
Q96G91 purinergic receptor P2Y11 G-protein coupled receptor 27 0.705 0.538 7.7E-03 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
P23760 paired box 3 257 0.481 0.769 0.24 0.100 None 0 0
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
P26367 paired box 6 340 0.450 0.769 1.00 0.100 None 0 0