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: 64837
Gene Symbol: KLC2
KLC2
Q9H0B6 kinesin light chain 2 31 0.736 0.346 0.98 0.100 None 0 0
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 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 247 0.505 0.769 1.00 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
P68133 actin alpha 1, skeletal muscle Cellular structure 217 0.540 0.769 1.1E-06 0.100 None 0 0
Entrez Id: 57716
Gene Symbol: PRX
PRX
Q9BXM0 periaxin 75 0.650 0.577 2.1E-14 0.100 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX
Q7Z2E3 aprataxin Nucleic acid binding 94 0.590 0.500 4.0E-10 0.100 None 0 0
Entrez Id: 54756
Gene Symbol: IL17RD
IL17RD
Q8NFM7 interleukin 17 receptor D 82 0.617 0.654 1.1E-06 0.100 None 0 0
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
Q8TB36 ganglioside induced differentiation associated protein 1 96 0.612 0.538 3.2E-08 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.100 None 0 0
Entrez Id: 5420
Gene Symbol: PODXL
PODXL
O00592 podocalyxin like 156 0.551 0.731 1.0E-03 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
Q04656 ATPase copper transporting alpha Transporter 348 0.494 0.769 1.00 0.100 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7
O00628 peroxisomal biogenesis factor 7 100 0.603 0.615 8.2E-13 0.100 None 0 0
Entrez Id: 5375
Gene Symbol: PMP2
PMP2
P02689 peripheral myelin protein 2 20 0.769 0.231 8.5E-03 0.100 None 0 0
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
P60201 proteolipid protein 1 Cellular structure 160 0.543 0.769 0.93 0.100 None 0 0
Entrez Id: 5264
Gene Symbol: PHYH
PHYH
O14832 phytanoyl-CoA 2-hydroxylase 65 0.659 0.577 2.4E-06 0.100 None 0 0
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
P21281 ATPase H+ transporting V1 subunit B2 Transporter 101 0.606 0.577 0.99 0.100 None 0 0
Entrez Id: 55129
Gene Symbol: ANO10
ANO10
Q9NW15 anoctamin 10 62 0.663 0.500 1.0E-14 0.100 None 0 0
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
Q9BUK6 misato mitochondrial distribution and morphology regulator 1 124 0.582 0.692 1.6E-09 0.100 None 0 0
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 84 0.647 0.423 8.7E-12 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5
O94827 pleckstrin homology and RhoGEF domain containing G5 50 0.674 0.385 3.4E-06 0.100 None 0 0
Entrez Id: 57165
Gene Symbol: GJC2
GJC2
Q5T442 gap junction protein gamma 2 Cell-cell junction 115 0.593 0.692 1.0E-02 0.100 None 0 0
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
Q8NI60 coenzyme Q8A Kinase 64 0.674 0.385 9.3E-11 0.100 None 0 0
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 151 0.584 0.731 0.92 0.100 None 0 0
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
Q9BY41 histone deacetylase 8 Epigenetic regulator 236 0.511 0.885 0.98 0.100 None 0 0