Source: ALL
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: 51750
Gene Symbol: RTEL1
RTEL1
Q9NZ71 regulator of telomere elongation helicase 1 Enzyme 321 0.459 0.808 8.9E-10 0.100 None 0 0
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
Q9UMX1 SUFU negative regulator of hedgehog signaling 272 0.493 0.769 1.00 0.100 None 0 0
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
P35913 phosphodiesterase 6B 64 0.626 0.346 2.6E-27 0.100 None 0 0
Entrez Id: 5148
Gene Symbol: PDE6G
PDE6G
P18545 phosphodiesterase 6G Enzyme 41 0.695 0.308 1.3E-02 0.100 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7
O00628 peroxisomal biogenesis factor 7 100 0.603 0.615 8.2E-13 0.100 None 0 0
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
O60683 peroxisomal biogenesis factor 10 141 0.584 0.654 5.4E-04 0.100 None 0 0
Entrez Id: 54507
Gene Symbol: ADAMTSL4
ADAMTSL4
Q6UY14 ADAMTS like 4 Enzyme 39 0.656 0.577 2.6E-28 0.100 None 0 0
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 0
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 285 0.477 0.885 1.00 0.100 None 0 0
Entrez Id: 5264
Gene Symbol: PHYH
PHYH
O14832 phytanoyl-CoA 2-hydroxylase 65 0.659 0.577 2.4E-06 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: 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: 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: 5193
Gene Symbol: PEX12
PEX12
O00623 peroxisomal biogenesis factor 12 Transporter 126 0.601 0.615 9.5E-16 0.100 None 0 0
Entrez Id: 55651
Gene Symbol: NHP2
NHP2
Q9NX24 NHP2 ribonucleoprotein Nucleic acid binding 91 0.623 0.654 5.0E-02 0.100 None 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
Q7Z412 peroxisomal biogenesis factor 26 132 0.584 0.615 0.93 0.100 None 0 0
Entrez Id: 57560
Gene Symbol: IFT80
IFT80
Q9P2H3 intraflagellar transport 80 109 0.575 0.692 1.4E-19 0.100 None 0 0
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
Q96HP0 dedicator of cytokinesis 6 Enzyme modulator 84 0.610 0.577 1.3E-26 0.100 None 0 0
Entrez Id: 57670
Gene Symbol: KIAA1549
KIAA1549
Q9HCM3 KIAA1549 64 0.615 0.346 0.99 0.100 None 0 0
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
Q8IYD8 FA complementation group M Enzyme 147 0.543 0.731 2.4E-15 0.100 None 0 0
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 0.100 None 0 0
Entrez Id: 57709
Gene Symbol: SLC7A14
SLC7A14
Q8TBB6 solute carrier family 7 member 14 Transporter 36 0.695 0.308 2.2E-02 0.100 None 0 0
Entrez Id: 57724
Gene Symbol: EPG5
EPG5
Q9HCE0 ectopic P-granules autophagy protein 5 homolog 94 0.623 0.769 1.4E-13 0.100 None 0 0
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
Q8NEZ3 WD repeat domain 19 143 0.554 0.769 4.6E-11 0.100 None 0 0
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