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: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 2
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: 11128
Gene Symbol: POLR3A
POLR3A
O14802 RNA polymerase III subunit A Enzyme 219 0.538 0.769 1.3E-23 0.100 None 0 0
Entrez Id: 2906
Gene Symbol: GRIN2D
GRIN2D
O15399 glutamate ionotropic receptor NMDA type subunit 2D Ion channel 82 0.650 0.538 1.00 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
O43426 synaptojanin 1 Enzyme 128 0.576 0.577 0.43 0.100 None 0 0
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 175 0.537 0.654 1.00 0.100 None 0 1
Entrez Id: 348980
Gene Symbol: HCN1
HCN1
O60741 hyperpolarization activated cyclic nucleotide gated potassium channel 1 157 0.564 0.654 1.00 0.100 None 0 0
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
O94805 actin like 6B Cellular structure 100 0.656 0.462 2.8E-04 0.100 None 0 0
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
O94905 ER lipid raft associated 2 85 0.647 0.500 6.7E-04 0.100 None 0 0
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
O95622 adenylate cyclase 5 103 0.617 0.577 1.00 0.100 None 0 0
Entrez Id: 5095
Gene Symbol: PCCA
PCCA
P05165 propionyl-CoA carboxylase subunit alpha Enzyme 57 0.682 0.538 3.1E-15 0.100 None 0 0
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
P05166 propionyl-CoA carboxylase subunit beta Enzyme 57 0.695 0.577 1.5E-08 0.100 None 0 0
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
P16389 potassium voltage-gated channel subfamily A member 2 Ion channel 111 0.612 0.577 0.91 0.100 None 0 0
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
P18507 gamma-aminobutyric acid type A receptor subunit gamma2 Ion channel 169 0.548 0.654 0.74 0.100 None 0 0
Entrez Id: 1644
Gene Symbol: DDC
DDC
P20711 dopa decarboxylase 164 0.535 0.769 3.8E-08 0.100 None 0 0
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
P30793 GTP cyclohydrolase 1 Enzyme 254 0.511 0.846 0.90 0.100 None 0 0
Entrez Id: 6697
Gene Symbol: SPR
SPR
P35270 sepiapterin reductase 90 0.631 0.654 4.3E-02 0.100 None 0 0
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
P38606 ATPase H+ transporting V1 subunit A Transporter 147 0.579 0.615 0.87 0.100 None 0 0
Entrez Id: 9101
Gene Symbol: USP8
USP8
P40818 ubiquitin specific peptidase 8 Enzyme 136 0.587 0.654 1.00 0.100 None 0 0
Entrez Id: 23310
Gene Symbol: NCAPD3
NCAPD3
P42695 non-SMC condensin II complex subunit D3 Nucleic acid binding 32 0.722 0.423 5.8E-09 0.100 None 0 0
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
P43004 solute carrier family 1 member 2 Transporter 208 0.511 0.731 0.71 0.100 None 0 0
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
P47870 gamma-aminobutyric acid type A receptor subunit beta2 Ion channel 89 0.619 0.500 0.85 0.100 None 0 0
Entrez Id: 1725
Gene Symbol: DHPS
DHPS
P49366 deoxyhypusine synthase 62 0.670 0.538 1.6E-04 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1
P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 84 0.647 0.462 1.8E-08 0.100 None 0 0
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
P51801 chloride voltage-gated channel Kb Ion channel 139 0.593 0.692 1.4E-22 0.100 None 0 1