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: 5376
Gene Symbol: PMP22
PMP22
Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.700 None 0.984 187 9 1990 2020
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
P25189 myelin protein zero 249 0.503 0.846 0.27 0.700 None 1.000 144 16 1988 2020
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
P08034 gap junction protein beta 1 Cell-cell junction 224 0.514 0.731 0.85 0.400 None 0.992 129 5 1994 2019
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
O60333 kinesin family member 1B Cellular structure 213 0.516 0.808 1.00 0.400 None 1.000 81 1 1986 2018
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
O95140 mitofusin 2 Enzyme 334 0.471 0.846 0.99 0.400 None 0.986 70 5 1996 2019
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP
Q15013 MAD2L1 binding protein 61 0.623 0.577 1.4E-08 0.100 None 1.000 64 0 1986 2018
Entrez Id: 8731
Gene Symbol: RNMT
RNMT
O43148 RNA guanine-7 methyltransferase 46 0.647 0.500 5.7E-05 0.100 None 1.000 62 0 1988 2018
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
P07196 neurofilament light 247 0.488 0.769 0.300 None 0.972 36 9 2002 2019
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
P50570 dynamin 2 Enzyme modulator 178 0.542 0.769 1.00 0.200 None 0.964 28 3 2005 2019
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
P41250 glycyl-tRNA synthetase 1 Enzyme 73 0.623 0.500 0.31 0.300 None 0.960 25 1 1996 2019
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2
Q13614 myotubularin related protein 2 Enzyme 50 0.659 0.538 3.0E-07 0.300 None 1.000 23 1 1996 2019
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
P04792 heat shock protein family B (small) member 1 395 0.436 0.808 2.8E-07 0.200 None 0.957 23 5 2004 2019
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
Q8TF17 SH3 domain and tetratricopeptide repeats 2 55 0.666 0.385 8.3E-16 0.400 None 1.000 22 5 2003 2019
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A
P51149 RAB7A, member RAS oncogene family 95 0.597 0.692 0.97 0.100 None 1.000 20 0 2000 2019
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
P11161 early growth response 2 Nucleic acid binding 133 0.547 0.769 0.50 0.300 None 1.000 18 6 1998 2017
Entrez Id: 57716
Gene Symbol: PRX
PRX
Q9BXM0 periaxin 75 0.650 0.577 2.1E-14 0.100 None 1.000 17 3 2000 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
P02545 lamin A/C 824 0.384 0.885 1.00 0.400 None 0.938 16 6 1999 2016
Entrez Id: 64423
Gene Symbol: INF2
INF2
Q27J81 inverted formin, FH2 and WH2 domain containing 62 0.644 0.423 0.97 0.100 None 0.933 15 0 2011 2019
Entrez Id: 9516
Gene Symbol: LITAF
LITAF
Q99732 lipopolysaccharide induced TNF factor Transcription factor 59 0.650 0.462 3.1E-02 0.100 None 1.000 15 0 2003 2017
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
Q92562 FIG4 phosphoinositide 5-phosphatase 223 0.551 0.731 2.3E-34 0.600 None 1.000 14 0 2007 2020
Entrez Id: 81846
Gene Symbol: SBF2
SBF2
Q86WG5 SET binding factor 2 Enzyme 77 0.619 0.577 6.4E-10 0.300 None 1.000 14 0 2003 2019
Entrez Id: 2618
Gene Symbol: GART
GART
P22102 phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase Enzyme 48 0.631 0.615 2.8E-04 0.100 None 0.923 13 0 2007 2019
Entrez Id: 338382
Gene Symbol: RAB7B
RAB7B
Q96AH8 RAB7B, member RAS oncogene family 65 0.615 0.731 0.100 None 1.000 11 0 2003 2019
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 174 0.547 0.769 1.00 0.390 None 1.000 10 2 2011 2018
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
Q9UJY1 heat shock protein family B (small) member 8 122 0.570 0.577 4.3E-02 0.200 None 1.000 10 2 2005 2018