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: 4864
Gene Symbol: NPC1
NPC1 		O15118 NPC intracellular cholesterol transporter 1 Transporter 220 0.518 0.692 6.5E-06 0.010 None 1.000 1 0 2009 2009
Entrez Id: 6473
Gene Symbol: SHOX
SHOX 		O15266 short stature homeobox 138 0.561 0.654 0.67 0.010 None 1.000 1 0 2008 2008
Entrez Id: 8557
Gene Symbol: TCAP
TCAP 		O15273 titin-cap 49 0.682 0.538 0.19 0.310 None 1.000 2 0 2010 2011
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 1
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH 		O43175 phosphoglycerate dehydrogenase Enzyme 288 0.484 0.885 1.3E-04 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		O43426 synaptojanin 1 Enzyme 128 0.576 0.577 0.43 0.010 None 1.000 1 0 2017 2017
Entrez Id: 8972
Gene Symbol: MGAM
MGAM 		O43451 maltase-glucoamylase Enzyme 95 0.592 0.615 1.0E-35 0.010 None 1.000 1 0 1983 1983
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		O43505 beta-1,4-glucuronyltransferase 1 84 0.590 0.538 6.9E-03 0.110 None 1.000 1 0 2014 2014
Entrez Id: 8910
Gene Symbol: SGCE
SGCE 		O43556 sarcoglycan epsilon Calcium-binding protein 68 0.626 0.538 2.4E-02 0.020 None 1.000 2 0 1998 2017
Entrez Id: 699
Gene Symbol: BUB1
BUB1 		O43683 BUB1 mitotic checkpoint serine/threonine kinase Kinase 162 0.528 0.731 4.9E-09 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		O43684 BUB3 mitotic checkpoint protein Nucleic acid binding 96 0.588 0.615 0.81 0.100 None 0 0
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		O60260 parkin RBR E3 ubiquitin protein ligase Enzyme 409 0.431 0.846 6.9E-07 0.010 None 1.000 1 1 2014 2014
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 231 0.502 0.808 7.0E-10 0.100 None 0 0
Entrez Id: 9242
Gene Symbol: MSC
MSC 		O60682 musculin 241 0.475 0.846 2.5E-02 0.010 None 1.000 1 0 2009 2009
Entrez Id: 27306
Gene Symbol: HPGDS
HPGDS 		O60760 hematopoietic prostaglandin D synthase 570 0.388 0.923 1.8E-06 0.010 None 1.000 1 0 2009 2009
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		O60762 dolichyl-phosphate mannosyltransferase subunit 1, catalytic Enzyme 57 0.695 0.385 1.6E-04 0.100 None 0 0
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		O75072 fukutin 211 0.511 0.692 8.7E-07 0.500 None 1.000 12 0 1999 2018
Entrez Id: 11155
Gene Symbol: LDB3
LDB3 		O75112 LIM domain binding 3 Cellular structure 69 0.659 0.385 9.6E-06 0.200 None 1.000 1 0 2001 2001
Entrez Id: 10049
Gene Symbol: DNAJB6
DNAJB6 		O75190 DnaJ heat shock protein family (Hsp40) member B6 65 0.659 0.462 0.85 0.120 None 1.000 2 0 2018 2020
Entrez Id: 8815
Gene Symbol: BANF1
BANF1 		O75531 BAF nuclear assembly factor 1 86 0.599 0.692 0.65 0.010 None 1.000 1 0 2007 2007
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		O75923 dysferlin Transporter 144 0.582 0.692 3.7E-33 0.400 None 0.962 52 5 1996 2019
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		O76090 bestrophin 1 Ion channel 292 0.465 0.885 1.8E-12 0.100 None 1.000 31 0 1988 2018
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		O94777 dolichyl-phosphate mannosyltransferase subunit 2, regulatory 63 0.666 0.500 0.32 0.010 None 1.000 1 0 2012 2012
Entrez Id: 23353
Gene Symbol: SUN1
SUN1 		O94901 Sad1 and UNC84 domain containing 1 Cellular structure 26 0.729 0.423 9.2E-06 0.010 None 1.000 1 0 2014 2014
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		O95452 gap junction protein beta 6 Cell-cell junction 176 0.528 0.808 1.7E-07 0.010 None 1.000 1 0 1995 1995