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: 6328
Gene Symbol: SCN3A
SCN3A
Q9NY46 sodium voltage-gated channel alpha subunit 3 Ion channel 88 0.617 0.538 1.00 0.100 None 0 0
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 188 0.537 0.538 1.9E-20 0.100 None 0 0
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1
Q96CU9 FAD dependent oxidoreductase domain containing 1 Enzyme 91 0.633 0.462 2.0E-16 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 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: 55187
Gene Symbol: VPS13D
VPS13D
Q5THJ4 vacuolar protein sorting 13 homolog D 33 0.769 0.346 1.1E-06 0.100 None 0 0
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
Q9NVS9 pyridoxamine 5'-phosphate oxidase Enzyme 60 0.659 0.500 1.1E-08 0.100 None 0 0
Entrez Id: 55149
Gene Symbol: MTPAP
MTPAP
Q9NVV4 mitochondrial poly(A) polymerase Enzyme 104 0.581 0.769 1.00 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: 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: 5420
Gene Symbol: PODXL
PODXL
O00592 podocalyxin like 156 0.551 0.731 1.0E-03 0.100 None 0 0
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
P37287 phosphatidylinositol glycan anchor biosynthesis class A 140 0.575 0.654 0.96 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
Q9NUD9 phosphatidylinositol glycan anchor biosynthesis class V 100 0.636 0.615 1.5E-08 0.100 None 0 0
Entrez Id: 55704
Gene Symbol: CCDC88A
CCDC88A
Q3V6T2 coiled-coil domain containing 88A Enzyme modulator 85 0.610 0.615 1.00 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 0.100 None 0 0
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
O75845 sterol-C5-desaturase Enzyme 71 0.641 0.577 2.6E-03 0.100 None 0 0
Entrez Id: 60558
Gene Symbol: GUF1
GUF1
Q8N442 GUF1 homolog, GTPase Enzyme 13 0.805 0.154 5.3E-18 0.100 None 0 0
Entrez Id: 5860
Gene Symbol: QDPR
QDPR
P09417 quinoid dihydropteridine reductase Enzyme 45 0.691 0.500 1.5E-04 0.100 None 0 0
Entrez Id: 5813
Gene Symbol: PURA
PURA
Q00577 purine rich element binding protein A Nucleic acid binding 83 0.644 0.500 0.94 0.100 None 0 0
Entrez Id: 5805
Gene Symbol: PTS
PTS
Q03393 6-pyruvoyltetrahydropterin synthase 89 0.636 0.654 6.5E-06 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
Q9ULP9 TBC1 domain family member 24 Enzyme modulator 218 0.530 0.808 1.3E-08 0.100 None 0 0
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
Q8NI60 coenzyme Q8A Kinase 64 0.674 0.385 9.3E-11 0.100 None 0 0
Entrez Id: 56978
Gene Symbol: PRDM8
PRDM8
Q9NQV8 PR/SET domain 8 39 0.678 0.462 0.78 0.100 None 0 0
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
Q96RR1 twinkle mtDNA helicase Enzyme 245 0.516 0.692 3.2E-03 0.100 None 0 0
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
P07602 prosaposin 189 0.532 0.846 0.99 0.100 None 0 0