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: 6311
Gene Symbol: ATXN2
ATXN2
Q99700 ataxin 2 Nucleic acid binding 341 0.482 0.808 0.85 0.110 None 1.000 1 0 2006 2006
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
P51587 BRCA2 DNA repair associated Nucleic acid binding 656 0.379 0.846 2.4E-25 0.010 None 1.000 1 0 1994 1994
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.100 None 0 0
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
Q96LT7 C9orf72-SMCR8 complex subunit 258 0.496 0.769 1.1E-06 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.100 None 0 0
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
Q00975 calcium voltage-gated channel subunit alpha1 B Ion channel 79 0.650 0.577 1.00 0.100 None 0 0
Entrez Id: 777
Gene Symbol: CACNA1E
CACNA1E
Q15878 calcium voltage-gated channel subunit alpha1 E Ion channel 63 0.650 0.577 1.00 0.100 None 0 0
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 87 0.612 0.538 1.00 0.010 None < 0.001 1 0 2019 2019
Entrez Id: 79587
Gene Symbol: CARS2
CARS2
Q9HA77 cysteinyl-tRNA synthetase 2, mitochondrial Enzyme 49 0.700 0.423 9.6E-08 0.100 None 0 0
Entrez Id: 8573
Gene Symbol: CASK
CASK
O14936 calcium/calmodulin dependent serine protein kinase Kinase 193 0.538 0.808 1.00 0.100 None 0 0
Entrez Id: 55704
Gene Symbol: CCDC88A
CCDC88A
Q3V6T2 coiled-coil domain containing 88A Enzyme modulator 85 0.610 0.615 1.00 0.100 None 0 0
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.100 None 0 0
Entrez Id: 10715
Gene Symbol: CERS1
CERS1
P27544 ceramide synthase 1 49 0.638 0.385 9.7E-02 0.100 None 0 0
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
O14647 chromodomain helicase DNA binding protein 2 99 0.585 0.577 1.00 0.100 None 0 0
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B
Q9UQN3 charged multivesicular body protein 2B 177 0.543 0.731 4.6E-06 0.100 None 0 0
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
Q9ULV3 CDKN1A interacting zinc finger protein 1 80 0.617 0.500 6.3E-02 0.100 None 0 0
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
P51793 chloride voltage-gated channel 4 Ion channel 114 0.587 0.654 1.00 0.100 None 0 0
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Q13286 CLN3 lysosomal/endosomal transmembrane protein, battenin Transporter 120 0.572 0.692 1.3E-07 0.100 None 0 0
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
O75503 CLN5 intracellular trafficking protein 43 0.705 0.269 1.7E-08 0.100 None 0 0
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
Q9NWW5 CLN6 transmembrane ER protein 59 0.670 0.231 1.0E-04 0.100 None 0 0
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
Q9UBY8 CLN8 transmembrane ER and ERGIC protein 50 0.682 0.423 3.6E-03 0.100 None 0 0
Entrez Id: 81570
Gene Symbol: CLPB
CLPB
Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 72 0.631 0.654 5.0E-04 0.100 None 0 0
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
Q00610 clathrin heavy chain Transporter 141 0.558 0.769 1.00 0.100 None 0 0
Entrez Id: 22866
Gene Symbol: CNKSR2
CNKSR2
Q8WXI2 connector enhancer of kinase suppressor of Ras 2 96 0.628 0.538 1.00 0.100 None 0 0
Entrez Id: 10695
Gene Symbol: CNPY3
CNPY3
Q9BT09 canopy FGF signaling regulator 3 12 0.805 0.269 0.40 0.100 None 0 0