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: 4747
Gene Symbol: NEFL
NEFL
P07196 neurofilament light 247 0.488 0.769 0.100 None 0 0
Entrez Id: 4626
Gene Symbol: MYH8
MYH8
P13535 myosin heavy chain 8 39 0.682 0.385 2.0E-51 0.100 None 0 0
Entrez Id: 26278
Gene Symbol: SACS
SACS
Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 422 0.457 0.808 2.2E-16 0.100 None 0 0
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
P38935 immunoglobulin mu DNA binding protein 2 102 0.636 0.615 3.0E-16 0.100 None 0 2
Entrez Id: 57716
Gene Symbol: PRX
PRX
Q9BXM0 periaxin 75 0.650 0.577 2.1E-14 0.100 None 0 0
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Q9UBM7 7-dehydrocholesterol reductase Enzyme 266 0.500 0.846 3.9E-13 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: 4358
Gene Symbol: MPV17
MPV17
P39210 mitochondrial inner membrane protein MPV17 Receptor 134 0.595 0.577 9.7E-11 0.100 None 0 0
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
P51659 hydroxysteroid 17-beta dehydrogenase 4 141 0.546 0.654 2.4E-10 0.100 None 0 1
Entrez Id: 81846
Gene Symbol: SBF2
SBF2
Q86WG5 SET binding factor 2 Enzyme 77 0.619 0.577 6.4E-10 0.100 None 0 0
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.100 None 0 0
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
Q8WVP7 limb development membrane protein 1 Receptor 98 0.619 0.308 1.3E-08 0.010 None 1.000 1 0 2013 2013
Entrez Id: 16
Gene Symbol: AARS1
AARS1
P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 84 0.647 0.462 1.8E-08 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: 23111
Gene Symbol: SPART
SPART
Q8N0X7 spartin 110 0.588 0.654 3.0E-07 0.100 None 0 0
Entrez Id: 168667
Gene Symbol: BMPER
BMPER
Q8N8U9 BMP binding endothelial regulator Enzyme modulator 75 0.641 0.577 6.6E-07 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: 3035
Gene Symbol: HARS1
HARS1
P12081 histidyl-tRNA synthetase 1 Enzyme 127 0.569 0.808 2.4E-06 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: 400916
Gene Symbol: CHCHD10
CHCHD10
Q8WYQ3 coiled-coil-helix-coiled-coil-helix domain containing 10 112 0.623 0.462 5.4E-06 0.100 None 0 0
Entrez Id: 5304
Gene Symbol: PIP
PIP
P12273 prolactin induced protein 109 0.556 0.808 6.8E-04 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 206 0.551 0.769 8.1E-04 0.100 None 0 1
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
P49638 alpha tocopherol transfer protein Transporter 147 0.612 0.577 1.4E-03 0.100 None 0 1
Entrez Id: 59345
Gene Symbol: GNB4
GNB4
Q9HAV0 G protein subunit beta 4 Enzyme 25 0.751 0.346 2.4E-03 0.100 None 0 0