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: 85476
Gene Symbol: GFM1
GFM1 		Q96RP9 G elongation factor mitochondrial 1 74 0.623 0.692 9.3E-13 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
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: 8913
Gene Symbol: CACNA1G
CACNA1G 		O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 111 0.590 0.577 1.00 0.100 None 0 0
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1 		O14617 adaptor related protein complex 3 subunit delta 1 Transporter 58 0.678 0.385 0.99 0.100 None 0 0
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B 		Q7Z3V4 ubiquitin protein ligase E3B 119 0.590 0.692 4.2E-08 0.100 None 0 0
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 116 0.610 0.577 1.4E-06 0.100 None 0 1
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		Q9NY47 calcium voltage-gated channel auxiliary subunit alpha2delta 2 Ion channel 78 0.626 0.615 1.00 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: 79947
Gene Symbol: DHDDS
DHDDS 		Q86SQ9 dehydrodolichyl diphosphate synthase subunit Enzyme 308 0.468 0.885 0.25 0.100 None 0 0
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 150 0.582 0.731 2.5E-04 0.100 None 0 2
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 302 0.510 0.731 1.00 0.100 None 0 1
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 224 0.529 0.769 8.1E-07 0.100 None 0 2
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		Q9BYX4 interferon induced with helicase C domain 1 319 0.471 0.808 7.0E-44 0.100 None 0 0
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3 		Q01959 solute carrier family 6 member 3 Transporter 373 0.453 0.885 1.00 0.100 None 0 0
Entrez Id: 6536
Gene Symbol: SLC6A9
SLC6A9 		P48067 solute carrier family 6 member 9 Transporter 71 0.641 0.500 2.2E-05 0.100 None 0 0
Entrez Id: 6571
Gene Symbol: SLC18A2
SLC18A2 		Q05940 solute carrier family 18 member A2 Transporter 150 0.554 0.769 7.6E-02 0.100 None 0 0
Entrez Id: 6663
Gene Symbol: SOX10
SOX10 		P56693 SRY-box transcription factor 10 334 0.461 0.808 0.99 0.100 None 0 0
Entrez Id: 6697
Gene Symbol: SPR
SPR 		P35270 sepiapterin reductase 90 0.631 0.654 4.3E-02 0.100 None 0 0
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		P61764 syntaxin binding protein 1 Transporter 213 0.532 0.692 1.00 0.100 None 0 1
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: 7054
Gene Symbol: TH
TH 		P07101 tyrosine hydroxylase 321 0.462 0.885 1.7E-06 0.100 None 0 0
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		P78381 solute carrier family 35 member A2 Transporter 197 0.525 0.808 0.72 0.100 None 0 0
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2 		P35227 polycomb group ring finger 2 114 0.579 0.615 0.86 0.100 None 0 0
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 225 0.510 0.846 1.00 0.100 None 0 1