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: 1384
Gene Symbol: CRAT
CRAT
P43155 carnitine O-acetyltransferase Enzyme 59 0.656 0.577 9.5E-12 0.100 None 0 1
Entrez Id: 51300
Gene Symbol: TIMMDC1
TIMMDC1
Q9NPL8 translocase of inner mitochondrial membrane domain containing 1 65 0.653 0.538 1.1E-08 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
P09619 platelet derived growth factor receptor beta Kinase 492 0.416 0.846 0.90 0.100 None 0 0
Entrez Id: 57192
Gene Symbol: MCOLN1
MCOLN1
Q9GZU1 mucolipin 1 Ion channel 102 0.601 0.654 5.8E-04 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: 5832
Gene Symbol: ALDH18A1
ALDH18A1
P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 206 0.551 0.769 8.1E-04 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: 6833
Gene Symbol: ABCC8
ABCC8
Q09428 ATP binding cassette subfamily C member 8 Transporter 317 0.474 0.846 8.0E-24 0.100 None 0 0
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
P20823 HNF1 homeobox A Nucleic acid binding 292 0.478 0.846 0.96 0.100 None 0 0
Entrez Id: 7351
Gene Symbol: UCP2
UCP2
P55851 uncoupling protein 2 Transporter 235 0.493 0.808 1.5E-10 0.100 None 0 0
Entrez Id: 7415
Gene Symbol: VCP
VCP
P55072 valosin containing protein 376 0.469 0.923 1.00 0.100 None 0 0
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
O95278 EPM2A glucan phosphatase, laforin 87 0.608 0.577 8.7E-06 0.100 None 0 0
Entrez Id: 85021
Gene Symbol: REPS1
REPS1
Q96D71 RALBP1 associated Eps domain containing 1 Enzyme modulator 22 0.769 0.269 0.99 0.100 None 0 1
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
O43426 synaptojanin 1 Enzyme 128 0.576 0.577 0.43 0.100 None 0 0
Entrez Id: 8869
Gene Symbol: ST3GAL5
ST3GAL5
Q9UNP4 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 78 0.650 0.654 1.3E-03 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 238 0.527 0.769 2.4E-03 0.100 None 0 0
Entrez Id: 4700
Gene Symbol: NDUFA6
NDUFA6
P56556 NADH:ubiquinone oxidoreductase subunit A6 Enzyme 57 0.711 0.346 1.3E-04 0.100 None 0 0
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
P54802 N-acetyl-alpha-glucosaminidase 152 0.546 0.769 1.4E-08 0.100 None 0 0
Entrez Id: 1497
Gene Symbol: CTNS
CTNS
O60931 cystinosin, lysosomal cystine transporter 88 0.628 0.538 3.1E-04 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL
P30566 adenylosuccinate lyase Enzyme 84 0.631 0.654 8.9E-12 0.100 None 0 2
Entrez Id: 220296
Gene Symbol: HEPACAM
HEPACAM
Q14CZ8 hepatic and glial cell adhesion molecule 70 0.621 0.500 0.87 0.100 None 0 0
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
Q6NVY1 3-hydroxyisobutyryl-CoA hydrolase Enzyme 60 0.700 0.500 2.6E-13 0.100 None 0 0
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
Q9BSI4 TERF1 interacting nuclear factor 2 158 0.575 0.731 1.3E-03 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA
P04062 glucosylceramidase beta 319 0.500 0.808 1.4E-06 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