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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		Q6DN12 multiple C2 and transmembrane domain containing 2 71 0.623 0.577 6.0E-52 0.100 None 0 0
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		Q7Z7G8 vacuolar protein sorting 13 homolog B 158 0.579 0.769 2.5E-45 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		Q92562 FIG4 phosphoinositide 5-phosphatase 223 0.551 0.731 2.3E-34 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: 2121
Gene Symbol: EVC
EVC 		P57679 EvC ciliary complex subunit 1 104 0.587 0.577 3.5E-25 0.100 None 0 2
Entrez Id: 55764
Gene Symbol: IFT122
IFT122 		Q9HBG6 intraflagellar transport 122 135 0.560 0.846 2.4E-24 0.100 None 0 0
Entrez Id: 1663
Gene Symbol: DDX11
DDX11 		Q96FC9 DEAD/H-box helicase 11 Enzyme 44 0.674 0.577 2.3E-21 0.100 None 0 0
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT 		Q6Y288 beta 3-glucosyltransferase Enzyme 157 0.554 0.731 7.1E-17 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: 5189
Gene Symbol: PEX1
PEX1 		O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		Q12767 transmembrane protein 94 103 0.628 0.654 2.8E-14 0.100 None 0 2
Entrez Id: 3977
Gene Symbol: LIFR
LIFR 		P42702 LIF receptor subunit alpha Signaling 198 0.523 0.808 1.5E-13 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1 		Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 0.100 None 0 0
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		Q9UBM7 7-dehydrocholesterol reductase Enzyme 266 0.500 0.846 3.9E-13 0.100 None 0 1
Entrez Id: 55165
Gene Symbol: CEP55
CEP55 		Q53EZ4 centrosomal protein 55 134 0.534 0.731 2.0E-12 0.100 None 0 0
Entrez Id: 2733
Gene Symbol: GLE1
GLE1 		Q53GS7 GLE1 RNA export mediator Transporter 93 0.628 0.577 2.1E-10 0.100 None 0 0
Entrez Id: 55081
Gene Symbol: IFT57
IFT57 		Q9NWB7 intraflagellar transport 57 Enzyme modulator 31 0.716 0.308 3.3E-10 0.100 None 0 0
Entrez Id: 23483
Gene Symbol: TGDS
TGDS 		O95455 TDP-glucose 4,6-dehydratase 63 0.644 0.538 2.5E-09 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 0.100 None 0 0
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B 		Q7Z3V4 ubiquitin protein ligase E3B 119 0.590 0.692 4.2E-08 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 224 0.529 0.769 8.1E-07 0.100 None 0 0
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3 		Q9BUM1 glucose-6-phosphatase catalytic subunit 3 79 0.606 0.731 4.7E-06 0.100 None 0 0
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		Q13608 peroxisomal biogenesis factor 6 232 0.547 0.731 6.3E-06 0.100 None 0 0
Entrez Id: 1798
Gene Symbol: DPAGT1
DPAGT1 		Q9H3H5 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Enzyme 94 0.621 0.538 1.1E-05 0.100 None 0 0