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: 10020
Gene Symbol: GNE
GNE
Q9Y223 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Enzyme 118 0.610 0.692 2.5E-16 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
P53007 solute carrier family 25 member 1 Transporter 168 0.553 0.731 5.9E-02 0.100 None 0 0
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3
Q16572 solute carrier family 18 member A3 Transporter 117 0.608 0.654 0.45 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
Q8WYB5 lysine acetyltransferase 6B Enzyme 208 0.525 0.731 1.00 0.100 None 0 1
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7
Q9GZV3 solute carrier family 5 member 7 Transporter 127 0.597 0.654 1.5E-02 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: 4649
Gene Symbol: MYO9A
MYO9A
B2RTY4 myosin IXA 95 0.647 0.500 0.49 0.100 None 0 0
Entrez Id: 375790
Gene Symbol: AGRN
AGRN
O00468 agrin 124 0.626 0.538 5.5E-07 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
Q9UKY4 protein O-mannosyltransferase 2 177 0.544 0.615 9.4E-12 0.100 None 0 0
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
Q9BQP7 mitochondrial genome maintenance exonuclease 1 52 0.695 0.423 1.8E-03 0.100 None 0 0
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25
P60880 synaptosome associated protein 25 Transporter 283 0.489 0.808 0.99 0.100 None 0 0
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 182 0.526 0.654 0.99 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.100 None 0 0
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
P28329 choline O-acetyltransferase Enzyme 230 0.520 0.808 5.6E-11 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 0.100 None 0 0
Entrez Id: 6843
Gene Symbol: VAMP1
VAMP1
P23763 vesicle associated membrane protein 1 124 0.628 0.538 3.9E-03 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2
Q8N9I0 synaptotagmin 2 Transporter 94 0.647 0.538 0.98 0.100 None 0 0
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
P05997 collagen type V alpha 2 chain 139 0.568 0.731 1.00 0.100 None 0 1
Entrez Id: 1305
Gene Symbol: COL13A1
COL13A1
Q5TAT6 collagen type XIII alpha 1 chain 139 0.608 0.654 3.7E-14 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
Q9Y5P6 GDP-mannose pyrophosphorylase B 158 0.578 0.538 8.4E-07 0.100 None 0 0
Entrez Id: 6611
Gene Symbol: SMS
SMS
P52788 spermine synthase 263 0.491 0.846 0.97 0.040 None 1.000 4 0 2018 2019
Entrez Id: 140821
Gene Symbol: RSS
RSS
Russell Silver syndrome 103 0.578 0.692 0.040 None 1.000 4 0 2018 2019
Entrez Id: 7908
Gene Symbol: EOS
EOS
eosinophilia, familial 36 0.666 0.538 0.030 None 1.000 3 0 2017 2019
Entrez Id: 260402
Gene Symbol: IS1
IS1
Adolescent idiopathic scoliosis 83 0.593 0.615 0.020 None 1.000 2 0 2018 2019
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
P01137 transforming growth factor beta 1 Signaling 1558 0.287 0.962 3.7E-02 0.010 None 1.000 1 0 2013 2013