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: 26053
Gene Symbol: AUTS2
AUTS2
Q8WXX7 activator of transcription and developmental regulator AUTS2 149 0.569 0.846 1.00 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
Q9H2P0 activity dependent neuroprotector homeobox 171 0.561 0.808 1.00 0.100 None 0 0
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
O14617 adaptor related protein complex 3 subunit delta 1 Transporter 58 0.678 0.385 0.99 0.100 None 0 0
Entrez Id: 417
Gene Symbol: ART1
ART1
P52961 ADP-ribosyltransferase 1 27 0.700 0.385 5.1E-12 0.010 None 1.000 1 0 2019 2019
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
Q6UB99 ankyrin repeat domain 11 177 0.556 0.808 1.00 0.100 None 0 1
Entrez Id: 51107
Gene Symbol: APH1A
APH1A
Q96BI3 aph-1 homolog A, gamma-secretase subunit Enzyme modulator 45 0.656 0.538 0.79 0.010 None 1.000 1 0 2017 2017
Entrez Id: 372
Gene Symbol: ARCN1
ARCN1
P48444 archain 1 Transporter 39 0.705 0.462 1.00 0.100 None 0 0
Entrez Id: 22901
Gene Symbol: ARSG
ARSG
Q96EG1 arylsulfatase G Enzyme 48 0.666 0.423 6.4E-10 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: 545
Gene Symbol: ATR
ATR
Q13535 ATR serine/threonine kinase Kinase 321 0.456 0.923 3.5E-09 0.010 None 1.000 1 0 2020 2020
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.100 None 0 1
Entrez Id: 388552
Gene Symbol: BLOC1S3
BLOC1S3
Q6QNY0 biogenesis of lysosomal organelles complex 1 subunit 3 32 0.729 0.385 4.1E-03 0.100 None 0 0
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
P38398 BRCA1 DNA repair associated Enzyme 747 0.367 0.923 9.2E-29 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 194 0.507 0.731 6.2E-17 0.100 None 0 0
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
P51587 BRCA2 DNA repair associated Nucleic acid binding 656 0.379 0.846 2.4E-25 0.100 None 0 0
Entrez Id: 6346
Gene Symbol: CCL1
CCL1
P22362 C-C motif chemokine ligand 1 Signaling 79 0.587 0.692 8.0E-03 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6366
Gene Symbol: CCL21
CCL21
O00585 C-C motif chemokine ligand 21 Signaling 186 0.502 0.769 3.6E-02 0.010 None 1.000 1 0 2019 2019
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
O60840 calcium voltage-gated channel subunit alpha1 F Ion channel 81 0.595 0.500 1.2E-05 0.110 None < 0.001 1 0 2006 2006
Entrez Id: 401237
Gene Symbol: CASC15
CASC15
cancer susceptibility 15 90 0.603 0.577 0.110 None 1.000 2 3 2015 2018
Entrez Id: 907
Gene Symbol: CCT
CCT
cataract, congenital, total 75 0.588 0.769 0.010 None 1.000 1 0 2018 2018
Entrez Id: 84131
Gene Symbol: CEP78
CEP78
Q5JTW2 centrosomal protein 78 40 0.686 0.346 6.2E-12 0.100 None 0 0
Entrez Id: 5119
Gene Symbol: CHMP1A
CHMP1A
Q9HD42 charged multivesicular body protein 1A 43 0.695 0.500 2.9E-04 0.100 None 0 0
Entrez Id: 91851
Gene Symbol: CHRDL1
CHRDL1
Q9BU40 chordin like 1 41 0.659 0.538 0.22 0.100 None 0 0
Entrez Id: 1107
Gene Symbol: CHD3
CHD3
Q12873 chromodomain helicase DNA binding protein 3 55 0.670 0.577 1.00 0.100 None 0 0
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
Q14839 chromodomain helicase DNA binding protein 4 94 0.593 0.654 1.00 0.100 None 0 0