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: 8621
Gene Symbol: CDK13
CDK13 		Q14004 cyclin dependent kinase 13 Kinase 141 0.606 0.692 0.91 0.100 None 1.000 1 1 2017 2017
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		Q9ULJ6 zinc finger MIZ-type containing 1 96 0.588 0.615 1.00 0.100 None 1.000 1 1 2019 2019
Entrez Id: 2581
Gene Symbol: GALC
GALC 		P54803 galactosylceramidase 99 0.604 0.615 5.2E-15 0.100 None 1.000 1 1 2018 2018
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7 		Q9GZV3 solute carrier family 5 member 7 Transporter 127 0.597 0.654 1.5E-02 0.100 None 0 0
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		P54136 arginyl-tRNA synthetase 1 94 0.604 0.538 3.3E-08 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: 58
Gene Symbol: ACTA1
ACTA1 		P68133 actin alpha 1, skeletal muscle Cellular structure 217 0.540 0.769 1.1E-06 0.100 None 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		Q9NZV5 selenoprotein N 147 0.575 0.692 9.8E-10 0.100 None 0 0
Entrez Id: 57038
Gene Symbol: RARS2
RARS2 		Q5T160 arginyl-tRNA synthetase 2, mitochondrial 57 0.663 0.462 7.7E-14 0.100 None 0 0
Entrez Id: 55863
Gene Symbol: TMEM126B
TMEM126B 		Q8IUX1 transmembrane protein 126B 56 0.716 0.385 1.9E-04 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: 6326
Gene Symbol: SCN2A
SCN2A 		Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 232 0.518 0.731 1.00 0.100 None 0 0
Entrez Id: 644096
Gene Symbol: SDHAF1
SDHAF1 		A6NFY7 succinate dehydrogenase complex assembly factor 1 88 0.656 0.462 8.7E-02 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		Q9C0K1 solute carrier family 39 member 8 Transporter 138 0.584 0.769 0.67 0.100 None 0 0
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		O14521 succinate dehydrogenase complex subunit D Transporter 348 0.472 0.885 0.34 0.100 None 0 0
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		P21912 succinate dehydrogenase complex iron sulfur subunit B Enzyme 316 0.474 0.846 2.4E-04 0.100 None 0 0
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 0
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 246 0.517 0.731 2.6E-10 0.100 None 0 0
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 0
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A 		Q9NY46 sodium voltage-gated channel alpha subunit 3 Ion channel 88 0.617 0.538 1.00 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1 		Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 0.100 None 0 0
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		Q96CU9 FAD dependent oxidoreductase domain containing 1 Enzyme 91 0.633 0.462 2.0E-16 0.100 None 0 0
Entrez Id: 51227
Gene Symbol: PIGP
PIGP 		P57054 phosphatidylinositol glycan anchor biosynthesis class P 85 0.633 0.462 1.9E-03 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		Q9Y375 NADH:ubiquinone oxidoreductase complex assembly factor 1 55 0.700 0.308 3.6E-03 0.100 None 0 0
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS 		Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 77 0.656 0.423 1.6E-08 0.100 None 0 2