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: 8818
Gene Symbol: DPM2
DPM2
O94777 dolichyl-phosphate mannosyltransferase subunit 2, regulatory 63 0.666 0.500 0.32 0.100 None 0 0
Entrez Id: 8799
Gene Symbol: PEX11B
PEX11B
O96011 peroxisomal biogenesis factor 11 beta 120 0.612 0.654 1.3E-04 0.100 None 0 0
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
Q8TCS8 polyribonucleotide nucleotidyltransferase 1 Enzyme 64 0.653 0.462 4.0E-04 0.100 None 0 0
Entrez Id: 8604
Gene Symbol: SLC25A12
SLC25A12
O75746 solute carrier family 25 member 12 Transporter 34 0.711 0.462 0.22 0.100 None 0 0
Entrez Id: 8504
Gene Symbol: PEX3
PEX3
P56589 peroxisomal biogenesis factor 3 127 0.595 0.731 1.6E-02 0.100 None 0 0
Entrez Id: 84706
Gene Symbol: GPT2
GPT2
Q8TD30 glutamic--pyruvic transaminase 2 Enzyme 63 0.650 0.577 3.4E-04 0.100 None 0 0
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
Q9H8P0 steroid 5 alpha-reductase 3 99 0.604 0.692 2.5E-04 0.100 None 0 1
Entrez Id: 79587
Gene Symbol: CARS2
CARS2
Q9HA77 cysteinyl-tRNA synthetase 2, mitochondrial Enzyme 49 0.700 0.423 9.6E-08 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: 7317
Gene Symbol: UBA1
UBA1
P22314 ubiquitin like modifier activating enzyme 1 Enzyme 62 0.666 0.615 1.00 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN
Q8WZ42 titin Kinase 366 0.470 0.885 2.6E-96 0.100 None 0 1
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
Q7Z412 peroxisomal biogenesis factor 26 132 0.584 0.615 0.93 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: 55033
Gene Symbol: FKBP14
FKBP14
Q9NWM8 FKBP prolyl isomerase 14 60 0.650 0.654 1.5E-06 0.100 None 0 0
Entrez Id: 3704
Gene Symbol: ITPA
ITPA
Q9BY32 inosine triphosphatase Enzyme 77 0.604 0.500 1.0E-07 0.100 None 0 0
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
P38935 immunoglobulin mu DNA binding protein 2 102 0.636 0.615 3.0E-16 0.100 None 0 2
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: 2902
Gene Symbol: GRIN1
GRIN1
Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 150 0.561 0.692 0.98 0.100 None 0 0
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
P30793 GTP cyclohydrolase 1 Enzyme 254 0.511 0.846 0.90 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 173 0.558 0.615 2.3E-21 0.100 None 0 0
Entrez Id: 23299
Gene Symbol: BICD2
BICD2
Q8TD16 BICD cargo adaptor 2 97 0.615 0.731 0.98 0.100 None 0 0
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
O75072 fukutin 211 0.511 0.692 8.7E-07 0.100 None 0 0
Entrez Id: 200205
Gene Symbol: IBA57
IBA57
Q5T440 iron-sulfur cluster assembly factor IBA57 63 0.666 0.423 8.4E-03 0.100 None 0 0
Entrez Id: 18
Gene Symbol: ABAT
ABAT
P80404 4-aminobutyrate aminotransferase Enzyme 127 0.628 0.538 6.3E-03 0.100 None 0 0
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2
Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 124 0.578 0.577 2.8E-07 0.100 None 0 0