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: 7884
Gene Symbol: SLBP
SLBP 		Q14493 stem-loop binding protein Nucleic acid binding 45 0.653 0.654 6.8E-02 0.300 None 1.000 1 0 2019 2019
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1 		O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 182 0.526 0.654 0.99 0.100 None 0 0
Entrez Id: 3052
Gene Symbol: HCCS
HCCS 		P53701 holocytochrome c synthase Enzyme 135 0.559 0.731 0.89 0.100 None 0 0
Entrez Id: 3832
Gene Symbol: KIF11
KIF11 		P52732 kinesin family member 11 Cellular structure 156 0.560 0.769 1.00 0.100 None 0 1
Entrez Id: 4693
Gene Symbol: NDP
NDP 		Q00604 norrin cystine knot growth factor NDP 142 0.566 0.692 0.65 0.100 None 0 0
Entrez Id: 5147
Gene Symbol: PDE6D
PDE6D 		O43924 phosphodiesterase 6D Enzyme 79 0.623 0.577 6.4E-03 0.100 None 0 0
Entrez Id: 54539
Gene Symbol: NDUFB11
NDUFB11 		Q9NX14 NADH:ubiquinone oxidoreductase subunit B11 Enzyme 149 0.566 0.692 0.80 0.100 None 0 0
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 188 0.537 0.538 1.9E-20 0.100 None 0 0
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		A4D126 CDP-L-ribitol pyrophosphorylase A 134 0.566 0.654 2.5E-04 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 0
Entrez Id: 8322
Gene Symbol: FZD4
FZD4 		Q9ULV1 frizzled class receptor 4 G-protein coupled receptor 239 0.490 0.923 0.97 0.100 None 0 1
Entrez Id: 84197
Gene Symbol: POMK
POMK 		Q9H5K3 protein O-mannose kinase Kinase 101 0.590 0.500 1.9E-08 0.100 None 0 0
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2 		Q8NAT1 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Enzyme 63 0.628 0.500 5.6E-06 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		Q9UKY4 protein O-mannosyltransferase 2 177 0.544 0.615 9.4E-12 0.100 None 0 0
Entrez Id: 11098
Gene Symbol: PRSS23
PRSS23 		O95084 serine protease 23 Enzyme 25 0.722 0.346 1.9E-05 0.100 None 0 1
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		O43505 beta-1,4-glucuronyltransferase 1 84 0.590 0.538 6.9E-03 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		P02458 collagen type II alpha 1 chain 496 0.444 0.846 1.00 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.100 None 0 0
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		P02462 collagen type IV alpha 1 chain 277 0.484 0.731 1.00 0.100 None 0 0
Entrez Id: 1349
Gene Symbol: COX7B
COX7B 		P24311 cytochrome c oxidase subunit 7B 104 0.595 0.654 0.67 0.100 None 0 0
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2 		Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 124 0.578 0.577 2.8E-07 0.100 None 0 0
Entrez Id: 1605
Gene Symbol: DAG1
DAG1 		Q14118 dystroglycan 1 Receptor 230 0.498 0.808 0.98 0.100 None 0 0
Entrez Id: 10329
Gene Symbol: RXYLT1
RXYLT1 		Q9Y2B1 ribitol xylosyltransferase 1 55 0.633 0.462 1.1E-06 0.100 None 0 0
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		O75072 fukutin 211 0.511 0.692 8.7E-07 0.100 None 0 0
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3 		Q13461 forkhead box E3 Transcription factor 118 0.568 0.654 0.18 0.100 None 0 0