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: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 2
Entrez Id: 54872
Gene Symbol: PIGG
PIGG
Q5H8A4 phosphatidylinositol glycan anchor biosynthesis class G 21 0.792 0.231 5.4E-15 0.100 None 0 0
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2
Q08J23 NOP2/Sun RNA methyltransferase 2 Enzyme 173 0.559 0.846 2.6E-04 0.100 None 0 0
Entrez Id: 549
Gene Symbol: AUH
AUH
Q13825 AU RNA binding methylglutaconyl-CoA hydratase Enzyme 42 0.686 0.346 8.0E-06 0.100 None 0 0
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
Q6DKK2 tetratricopeptide repeat domain 19 78 0.663 0.385 1.4E-08 0.100 None 0 0
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS
Q9NX46 ADP-ribosylserine hydrolase 30 0.743 0.308 5.8E-04 0.100 None 0 0
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
Q9NWW5 CLN6 transmembrane ER protein 59 0.670 0.231 1.0E-04 0.100 None 0 0
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 92 0.638 0.577 9.8E-13 0.100 None 0 0
Entrez Id: 55180
Gene Symbol: LINS1
LINS1
Q8NG48 lines homolog 1 49 0.691 0.231 2.4E-07 0.100 None 0 0
Entrez Id: 55275
Gene Symbol: VPS53
VPS53
Q5VIR6 VPS53 subunit of GARP complex 49 0.659 0.654 1.4E-07 0.100 None 0 0
Entrez Id: 54862
Gene Symbol: CC2D1A
CC2D1A
Q6P1N0 coiled-coil and C2 domain containing 1A 72 0.628 0.462 8.5E-03 0.100 None 0 0
Entrez Id: 54834
Gene Symbol: GDAP2
GDAP2
Q9NXN4 ganglioside induced differentiation associated protein 2 19 0.839 0.154 1.5E-09 0.100 None 0 0
Entrez Id: 5393
Gene Symbol: EXOSC9
EXOSC9
Q06265 exosome component 9 Enzyme 55 0.705 0.423 1.8E-11 0.100 None 0 1
Entrez Id: 54187
Gene Symbol: NANS
NANS
Q9NR45 N-acetylneuraminate synthase Enzyme 153 0.545 0.692 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: 54209
Gene Symbol: TREM2
TREM2
Q9NZC2 triggering receptor expressed on myeloid cells 2 239 0.519 0.769 3.3E-09 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: 54476
Gene Symbol: RNF216
RNF216
Q9NWF9 ring finger protein 216 47 0.670 0.615 2.3E-06 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.100 None 0 0
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
Q12756 kinesin family member 1A Cellular structure 187 0.559 0.692 1.00 0.100 None 0 1
Entrez Id: 54802
Gene Symbol: TRIT1
TRIT1
Q9H3H1 tRNA isopentenyltransferase 1 Enzyme 73 0.621 0.692 4.1E-11 0.100 None 0 0
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
Q08209 protein phosphatase 3 catalytic subunit alpha 149 0.568 0.769 1.00 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3
Q9NUN7 alkaline ceramidase 3 31 0.743 0.423 0.87 0.100 None 0 0
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
P50897 palmitoyl-protein thioesterase 1 Enzyme 112 0.593 0.808 4.9E-05 0.100 None 0 4
Entrez Id: 57102
Gene Symbol: C12orf4
C12orf4
Q9NQ89 chromosome 12 open reading frame 4 49 0.691 0.308 1.1E-05 0.100 None 0 0