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: 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: 7466
Gene Symbol: WFS1
WFS1 		O76024 wolframin ER transmembrane glycoprotein 185 0.528 0.846 1.6E-38 0.100 None 0 1
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG 		P07510 cholinergic receptor nicotinic gamma subunit Ion channel 124 0.573 0.692 3.3E-19 0.100 None 0 0
Entrez Id: 23514
Gene Symbol: SPIDR
SPIDR 		Q14159 scaffold protein involved in DNA repair 37 0.700 0.538 2.4E-17 0.100 None 0 0
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2 		Q9Y6C5 patched 2 114 0.563 0.692 3.4E-16 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 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		P12955 peptidase D Enzyme 113 0.621 0.769 1.5E-14 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN 		P15502 elastin 545 0.415 0.885 2.1E-14 0.100 None 0 0
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: 4638
Gene Symbol: MYLK
MYLK 		Q15746 myosin light chain kinase Kinase 199 0.510 0.846 9.2E-12 0.100 None 0 0
Entrez Id: 2492
Gene Symbol: FSHR
FSHR 		P23945 follicle stimulating hormone receptor G-protein coupled receptor 158 0.539 0.654 1.4E-11 0.100 None 0 0
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF 		O00192 ARVCF delta catenin family member Cellular structure 151 0.540 0.769 5.0E-11 0.100 None 0 0
Entrez Id: 5447
Gene Symbol: POR
POR 		P16435 cytochrome p450 oxidoreductase 218 0.502 0.769 3.4E-10 0.100 None 0 0
Entrez Id: 11107
Gene Symbol: PRDM5
PRDM5 		Q9NQX1 PR/SET domain 5 73 0.621 0.654 3.6E-10 0.100 None 0 0
Entrez Id: 57122
Gene Symbol: NUP107
NUP107 		P57740 nucleoporin 107 Transporter 98 0.595 0.500 2.6E-09 0.100 None 0 0
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		O95528 solute carrier family 2 member 10 Transporter 135 0.550 0.615 1.6E-08 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: 55644
Gene Symbol: OSGEP
OSGEP 		Q9NPF4 O-sialoglycoprotein endopeptidase Enzyme 79 0.626 0.615 7.1E-08 0.100 None 0 0
Entrez Id: 1075
Gene Symbol: CTSC
CTSC 		P53634 cathepsin C Enzyme 139 0.541 0.731 1.1E-07 0.100 None 0 0
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B 		Q8N6M0 OTU deubiquitinase 6B Enzyme 76 0.659 0.538 1.3E-07 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: 1312
Gene Symbol: COMT
COMT 		P21964 catechol-O-methyltransferase Enzyme 622 0.400 0.923 1.1E-06 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 188 0.545 0.692 1.2E-06 0.100 None 0 0
Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2 		Q96C36 pyrroline-5-carboxylate reductase 2 54 0.682 0.462 2.1E-06 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 0.100 None 0 2