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: 5194
Gene Symbol: PEX13
PEX13
Q92968 peroxisomal biogenesis factor 13 132 0.597 0.654 5.9E-05 0.100 None 0 0
Entrez Id: 5195
Gene Symbol: PEX14
PEX14
O75381 peroxisomal biogenesis factor 14 Receptor 133 0.592 0.692 0.23 0.100 None 0 0
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
P21281 ATPase H+ transporting V1 subunit B2 Transporter 101 0.606 0.577 0.99 0.100 None 0 0
Entrez Id: 5297
Gene Symbol: PI4KA
PI4KA
P42356 phosphatidylinositol 4-kinase alpha Kinase 31 0.695 0.577 3.1E-12 0.100 None 0 0
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 123 0.579 0.731 1.5E-15 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
Q9UJ55 MAGE family member L2 Cell adhesion 184 0.560 0.654 0.98 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.100 None 0 0
Entrez Id: 54808
Gene Symbol: DYM
DYM
Q7RTS9 dymeclin 155 0.563 0.769 3.6E-13 0.100 None 0 0
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
Q9NW38 FA complementation group L Enzyme 137 0.551 0.731 5.9E-23 0.100 None 0 0
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
Q6PCD5 ring finger and WD repeat domain 3 Enzyme 119 0.569 0.731 3.5E-10 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
Q9NVI1 FA complementation group I 147 0.543 0.731 8.9E-37 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
P51812 ribosomal protein S6 kinase A3 Kinase 315 0.491 0.846 1.00 0.100 None 0 1
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.100 None 0 0
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
Q86YC2 partner and localizer of BRCA2 260 0.485 0.769 3.0E-19 0.100 None 0 0
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
Q9C0F0 ASXL transcriptional regulator 3 149 0.590 0.577 1.00 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
Q14683 structural maintenance of chromosomes 1A 251 0.509 0.808 1.00 0.100 None 0 0
Entrez Id: 83737
Gene Symbol: ITCH
ITCH
Q96J02 itchy E3 ubiquitin protein ligase Enzyme 123 0.556 0.769 1.00 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8
Q9H0W5 coiled-coil domain containing 8 98 0.599 0.692 0.25 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: 84464
Gene Symbol: SLX4
SLX4
Q8IY92 SLX4 structure-specific endonuclease subunit 123 0.565 0.731 1.6E-22 0.100 None 0 0
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
O75665 OFD1 centriole and centriolar satellite protein 261 0.510 0.808 0.96 0.100 None 0 0
Entrez Id: 8504
Gene Symbol: PEX3
PEX3
P56589 peroxisomal biogenesis factor 3 127 0.595 0.731 1.6E-02 0.100 None 0 0
Entrez Id: 8799
Gene Symbol: PEX11B
PEX11B
O96011 peroxisomal biogenesis factor 11 beta 120 0.612 0.654 1.3E-04 0.100 None 0 0
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 143 0.568 0.692 1.00 0.100 None 0 0
Entrez Id: 9342
Gene Symbol: SNAP29
SNAP29
O95721 synaptosome associated protein 29 Transporter 70 0.633 0.654 1.4E-02 0.100 None 0 0