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: 6716
Gene Symbol: SRD5A2
SRD5A2 		P31213 steroid 5 alpha-reductase 2 Enzyme 106 0.564 0.615 0.100 None 0 0
Entrez Id: 6476
Gene Symbol: SI
SI 		P14410 sucrase-isomaltase Enzyme 117 0.569 0.692 3.9E-60 0.100 None 0 0
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		Q02388 collagen type VII alpha 1 chain Receptor 160 0.545 0.808 2.4E-40 0.100 None 0 0
Entrez Id: 4624
Gene Symbol: MYH6
MYH6 		P13533 myosin heavy chain 6 104 0.581 0.615 1.6E-32 0.100 None 0 0
Entrez Id: 7299
Gene Symbol: TYR
TYR 		P14679 tyrosinase Enzyme 281 0.473 0.808 5.0E-32 0.100 None 0 3
Entrez Id: 1565
Gene Symbol: CYP2D6
CYP2D6 		P10635 cytochrome P450 family 2 subfamily D member 6 432 0.437 0.885 1.1E-25 0.100 None 0 0
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		O96017 checkpoint kinase 2 Kinase 297 0.460 0.808 1.2E-24 0.100 None 0 0
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1 		P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 141 0.551 0.769 1.4E-22 0.100 None 0 0
Entrez Id: 7498
Gene Symbol: XDH
XDH 		P47989 xanthine dehydrogenase Enzyme 165 0.529 0.846 2.6E-22 0.100 None 0 0
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		O43511 solute carrier family 26 member 4 Transporter 194 0.507 0.885 9.0E-22 0.100 None 0 0
Entrez Id: 7173
Gene Symbol: TPO
TPO 		P07202 thyroid peroxidase Enzyme 306 0.455 0.846 1.8E-21 0.100 None 0 0
Entrez Id: 471
Gene Symbol: ATIC
ATIC 		P31939 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Enzyme 100 0.576 0.731 3.0E-19 0.100 None 0 0
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 213 0.543 0.615 4.8E-19 0.100 None 0 0
Entrez Id: 4126
Gene Symbol: MANBA
MANBA 		O00462 mannosidase beta Enzyme 38 0.736 0.462 1.3E-18 0.100 None 0 0
Entrez Id: 23514
Gene Symbol: SPIDR
SPIDR 		Q14159 scaffold protein involved in DNA repair 37 0.700 0.538 2.4E-17 0.100 None 0 0
Entrez Id: 10020
Gene Symbol: GNE
GNE 		Q9Y223 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Enzyme 118 0.610 0.692 2.5E-16 0.100 None 0 0
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		P12883 myosin heavy chain 7 257 0.516 0.692 4.2E-16 0.100 None 0 0
Entrez Id: 64788
Gene Symbol: LMF1
LMF1 		Q96S06 lipase maturation factor 1 16 0.769 0.231 5.1E-16 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		O00623 peroxisomal biogenesis factor 12 Transporter 126 0.601 0.615 9.5E-16 0.100 None 0 0
Entrez Id: 405753
Gene Symbol: DUOXA2
DUOXA2 		Q1HG44 dual oxidase maturation factor 2 33 0.700 0.423 1.3E-15 0.100 None 0 0
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 123 0.579 0.731 1.5E-15 0.100 None 0 0
Entrez Id: 7253
Gene Symbol: TSHR
TSHR 		P16473 thyroid stimulating hormone receptor G-protein coupled receptor 250 0.486 0.808 3.0E-15 0.100 None 0 0
Entrez Id: 4353
Gene Symbol: MPO
MPO 		P05164 myeloperoxidase Enzyme 653 0.377 0.923 7.1E-15 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		P12955 peptidase D Enzyme 113 0.621 0.769 1.5E-14 0.100 None 0 0