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: 3912
Gene Symbol: LAMB1
LAMB1
P07942 laminin subunit beta 1 Enzyme modulator 75 0.615 0.654 5.1E-22 0.100 None 0 0
Entrez Id: 9101
Gene Symbol: USP8
USP8
P40818 ubiquitin specific peptidase 8 Enzyme 136 0.587 0.654 1.00 0.100 None 0 0
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
O75881 cytochrome P450 family 7 subfamily B member 1 Enzyme 141 0.563 0.692 3.3E-06 0.120 None 1.000 13 10 1998 2016
Entrez Id: 57165
Gene Symbol: GJC2
GJC2
Q5T442 gap junction protein gamma 2 Cell-cell junction 115 0.593 0.692 1.0E-02 0.110 None 1.000 4 3 2004 2010
Entrez Id: 1130
Gene Symbol: LYST
LYST
Q99698 lysosomal trafficking regulator 114 0.621 0.692 1.5E-02 0.310 None 1.000 3 0 2014 2014
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
Q12756 kinesin family member 1A Cellular structure 187 0.559 0.692 1.00 0.110 None 1.000 2 2 2014 2016
Entrez Id: 10273
Gene Symbol: STUB1
STUB1
Q9UNE7 STIP1 homology and U-box containing protein 1 155 0.544 0.692 1.9E-02 0.010 None 1.000 1 0 2014 2014
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.110 None 1.000 1 0 2013 2013
Entrez Id: 4099
Gene Symbol: MAG
MAG
P20916 myelin associated glycoprotein Receptor 106 0.579 0.692 0.49 0.110 None 1.000 1 2 2019 2019
Entrez Id: 57531
Gene Symbol: HACE1
HACE1
Q8IYU2 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 Enzyme 95 0.601 0.692 6.1E-06 0.300 None 1.000 1 0 2015 2015
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
Q16881 thioredoxin reductase 1 Enzyme 136 0.529 0.692 1.6E-06 0.010 None 1.000 1 0 2006 2006
Entrez Id: 8630
Gene Symbol: HSD17B6
HSD17B6
O14756 hydroxysteroid 17-beta dehydrogenase 6 Enzyme 82 0.592 0.692 0.35 0.010 None 1.000 1 0 2006 2006
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
P61764 syntaxin binding protein 1 Transporter 213 0.532 0.692 1.00 0.100 None 0 0
Entrez Id: 8050
Gene Symbol: PDHX
PDHX
O00330 pyruvate dehydrogenase complex component X Enzyme 93 0.595 0.692 9.7E-05 0.100 None 0 0
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A
Q12840 kinesin family member 5A Cellular structure 112 0.593 0.731 1.00 0.190 None 1.000 12 6 2001 2018
Entrez Id: 57026
Gene Symbol: PDXP
PDXP
Q96GD0 pyridoxal phosphatase Enzyme 149 0.533 0.731 0.26 0.010 None 1.000 1 0 1998 1998
Entrez Id: 10667
Gene Symbol: FARS2
FARS2
O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 89 0.615 0.731 9.3E-09 0.100 None 0 0
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
P28715 ERCC excision repair 5, endonuclease 238 0.499 0.731 2.7E-13 0.100 None 0 1
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
P33897 ATP binding cassette subfamily D member 1 Transporter 154 0.563 0.731 1.00 0.100 None 0 1
Entrez Id: 23064
Gene Symbol: SETX
SETX
Q7Z333 senataxin Enzyme 133 0.570 0.731 0.95 0.100 None 0 0
Entrez Id: 8504
Gene Symbol: PEX3
PEX3
P56589 peroxisomal biogenesis factor 3 127 0.595 0.731 1.6E-02 0.100 None 0 0
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
P32004 L1 cell adhesion molecule 289 0.475 0.769 1.00 0.110 None 1.000 8 10 1994 2010
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
P60201 proteolipid protein 1 Cellular structure 160 0.543 0.769 0.93 0.140 None 1.000 4 0 1998 2019
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
Q8IY17 patatin like phospholipase domain containing 6 Enzyme 167 0.533 0.769 1.9E-13 0.120 None 1.000 2 0 2015 2019
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 1.000 2 1 1999 2017