Source: ALL
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: 4846
Gene Symbol: NOS3
NOS3 		P29474 nitric oxide synthase 3 706 0.378 0.885 6.7E-07 0.010 None 1.000 1 0 2004 2004
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		P33897 ATP binding cassette subfamily D member 1 Transporter 154 0.563 0.731 1.00 0.100 None 0 0
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL 		P35914 3-hydroxy-3-methylglutaryl-CoA lyase Enzyme 75 0.691 0.462 2.6E-06 0.100 None 0 0
Entrez Id: 3064
Gene Symbol: HTT
HTT 		P42858 huntingtin 188 0.548 0.654 1.00 0.100 None 0 0
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		P42898 methylenetetrahydrofolate reductase 985 0.337 0.885 3.2E-10 0.010 None 1.000 1 0 2004 2004
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 219 0.504 0.769 1.00 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		P49768 presenilin 1 Enzyme 369 0.469 0.846 0.97 0.100 None 0 0
Entrez Id: 953
Gene Symbol: ENTPD1
ENTPD1 		P49961 ectonucleoside triphosphate diphosphohydrolase 1 Enzyme 206 0.499 0.769 8.1E-03 0.100 None 0 0
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 281 0.485 0.769 4.5E-08 0.100 None 0 1
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: 7415
Gene Symbol: VCP
VCP 		P55072 valosin containing protein 376 0.469 0.923 1.00 0.100 None 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 102 0.612 0.654 1.1E-12 0.100 None 0 0
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		Q12830 bromodomain PHD finger transcription factor 171 0.560 0.769 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5 		Q13144 eukaryotic translation initiation factor 2B subunit epsilon 84 0.615 0.769 6.4E-02 0.100 None 0 1
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		Q13496 myotubularin 1 Enzyme 125 0.573 0.731 1.00 0.100 None 0 1
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1 		Q13501 sequestosome 1 470 0.428 0.885 8.6E-04 0.100 None 0 0
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		Q13608 peroxisomal biogenesis factor 6 232 0.547 0.731 6.3E-06 0.100 None 0 2
Entrez Id: 1807
Gene Symbol: DPYS
DPYS 		Q14117 dihydropyrimidinase Enzyme 63 0.621 0.577 2.8E-11 0.100 None 0 0
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		Q15046 lysyl-tRNA synthetase 1 Enzyme 62 0.636 0.577 4.2E-09 0.100 None 0 2
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		Q5T011 SZT2 subunit of KICSTOR complex 72 0.670 0.423 2.3E-14 0.100 None 0 2
Entrez Id: 22907
Gene Symbol: DHX30
DHX30 		Q7L2E3 DExH-box helicase 30 Enzyme 47 0.722 0.500 1.00 0.100 None 0 1
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: 23332
Gene Symbol: CLASP1
CLASP1 		Q7Z460 cytoplasmic linker associated protein 1 Cellular structure 27 0.751 0.500 1.00 0.100 None 0 2
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		Q86YT5 solute carrier family 13 member 5 Transporter 106 0.608 0.577 5.1E-04 0.100 None 0 0
Entrez Id: 55739
Gene Symbol: NAXD
NAXD 		Q8IW45 NAD(P)HX dehydratase 25 0.839 0.231 7.0E-03 0.100 None 0 0