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: 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: 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: 5805
Gene Symbol: PTS
PTS 		Q03393 6-pyruvoyltetrahydropterin synthase 89 0.636 0.654 6.5E-06 0.100 None 0 0
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		O94805 actin like 6B Cellular structure 100 0.656 0.462 2.8E-04 0.100 None 0 0
Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2 		Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 60 0.691 0.346 0.77 0.100 None 0 0
Entrez Id: 10564
Gene Symbol: ARFGEF2
ARFGEF2 		Q9Y6D5 ADP ribosylation factor guanine nucleotide exchange factor 2 52 0.659 0.462 1.00 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 84 0.647 0.462 1.8E-08 0.100 None 0 0
Entrez Id: 79868
Gene Symbol: ALG13
ALG13 		Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 98 0.631 0.577 1.00 0.100 None 0 0
Entrez Id: 85365
Gene Symbol: ALG2
ALG2 		Q9H553 ALG2 alpha-1,3/1,6-mannosyltransferase 70 0.670 0.423 8.0E-05 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		Q92685 ALG3 alpha-1,3- mannosyltransferase Enzyme 61 0.644 0.500 3.7E-10 0.100 None 0 0
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1 		Q12904 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Enzyme 125 0.566 0.769 3.0E-07 0.100 None 0 0
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2 		Q13155 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 555 0.393 0.923 8.0E-03 0.100 None 0 0
Entrez Id: 51319
Gene Symbol: RSRC1
RSRC1 		Q96IZ7 arginine and serine rich coiled-coil 1 66 0.650 0.462 7.5E-05 0.100 None 0 0
Entrez Id: 170302
Gene Symbol: ARX
ARX 		Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.100 None 0 0
Entrez Id: 64801
Gene Symbol: ARV1
ARV1 		Q9H2C2 ARV1 homolog, fatty acid homeostasis modulator 57 0.691 0.423 3.6E-06 0.100 None 0 0
Entrez Id: 440
Gene Symbol: ASNS
ASNS 		P08243 asparagine synthetase (glutamine-hydrolyzing) Enzyme 90 0.595 0.692 9.4E-06 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: 84896
Gene Symbol: ATAD1
ATAD1 		Q8NBU5 ATPase family AAA domain containing 1 126 0.545 0.692 1.3E-03 0.100 None 0 0
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A 		P38606 ATPase H+ transporting V1 subunit A Transporter 147 0.579 0.615 0.87 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
Entrez Id: 51733
Gene Symbol: UPB1
UPB1 		Q9UBR1 beta-ureidopropionase 1 Enzyme 21 0.722 0.346 7.4E-12 0.300 None 1.000 1 0 2009 2009
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.100 None 0 0
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B 		Q00975 calcium voltage-gated channel subunit alpha1 B Ion channel 79 0.650 0.577 1.00 0.100 None 0 0
Entrez Id: 777
Gene Symbol: CACNA1E
CACNA1E 		Q15878 calcium voltage-gated channel subunit alpha1 E Ion channel 63 0.650 0.577 1.00 0.100 None 0 0
Entrez Id: 8573
Gene Symbol: CASK
CASK 		O14936 calcium/calmodulin dependent serine protein kinase Kinase 193 0.538 0.808 1.00 0.100 None 0 0