Disease: Distal amyotrophy
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NEFL P07196 neurofilament light 0.488 0.769
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538
DYSF O75923 dysferlin Transporter 3.7E-33 0.582 0.692
SACS Q9NZJ4 sacsin molecular chaperone 1.1E-23 0.606 0.654
ZFYVE26 Q68DK2 zinc finger FYVE-type containing 26 4.7E-23 0.636 0.615
GBA2 Q9HCG7 glucosylceramidase beta 2 2.0E-20 0.636 0.654
MME P08473 membrane metalloendopeptidase Enzyme 1.5E-18 0.407 0.808
TDP1 Q9NUW8 tyrosyl-DNA phosphodiesterase 1 Enzyme 1.3E-17 0.612 0.538
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
SH3TC2 Q8TF17 SH3 domain and tetratricopeptide repeats 2 8.3E-16 0.666 0.385
PRX Q9BXM0 periaxin 2.1E-14 0.650 0.577
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
LRSAM1 Q6UWE0 leucine rich repeat and sterile alpha motif containing 1 3.1E-13 0.638 0.500
MRE11 P49959 MRE11 homolog, double strand break repair nuclease 1.3E-12 0.527 0.808
ALS2 Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 8.7E-12 0.647 0.423
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577
APTX Q7Z2E3 aprataxin Nucleic acid binding 4.0E-10 0.590 0.500
SBF2 Q86WG5 SET binding factor 2 Enzyme 6.4E-10 0.619 0.577
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692
MSTO1 Q9BUK6 misato mitochondrial distribution and morphology regulator 1 1.6E-09 0.582 0.692
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
GDAP1 Q8TB36 ganglioside induced differentiation associated protein 1 3.2E-08 0.612 0.538
HSPB1 P04792 heat shock protein family B (small) member 1 2.8E-07 0.436 0.808
SPART Q8N0X7 spartin 3.0E-07 0.588 0.654