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: 113278
Gene Symbol: SLC52A3
SLC52A3
Q9NQ40 solute carrier family 52 member 3 Transporter 103 0.610 0.654 1.9E-02 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: 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: 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: 4747
Gene Symbol: NEFL
NEFL
P07196 neurofilament light 247 0.488 0.769 0.100 None 0 1
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
P08034 gap junction protein beta 1 Cell-cell junction 224 0.514 0.731 0.85 0.100 None 0 1
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: 2395
Gene Symbol: FXN
FXN
Q16595 frataxin Enzyme 220 0.510 0.654 0.34 0.100 None 0 0
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
Q14203 dynactin subunit 1 Chaperone 116 0.597 0.500 8.4E-02 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