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: 4683
Gene Symbol: NBN
NBN
O60934 nibrin Nucleic acid binding 291 0.467 0.808 2.2E-16 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 422 0.457 0.808 2.2E-16 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
Q9BVV6 KIAA0586 157 0.565 0.731 5.1E-16 0.100 None 0 0
Entrez Id: 114034
Gene Symbol: TOE1
TOE1
Q96GM8 target of EGR1, exonuclease Nucleic acid binding 51 0.682 0.462 6.0E-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: 79823
Gene Symbol: CAMKMT
CAMKMT
Q7Z624 calmodulin-lysine N-methyltransferase 185 0.510 0.808 1.4E-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 1
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 65 0.674 0.538 5.5E-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: 171023
Gene Symbol: ASXL1
ASXL1
Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 0.100 None 0 1
Entrez Id: 5184
Gene Symbol: PEPD
PEPD
P12955 peptidase D Enzyme 113 0.621 0.769 1.5E-14 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN
P15502 elastin 545 0.415 0.885 2.1E-14 0.100 None 0 0
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
Q12767 transmembrane protein 94 103 0.628 0.654 2.8E-14 0.100 None 0 0
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
Q96T60 polynucleotide kinase 3'-phosphatase 163 0.553 0.692 3.7E-14 0.100 None 0 0
Entrez Id: 9581
Gene Symbol: PREPL
PREPL
Q4J6C6 prolyl endopeptidase like 58 0.644 0.538 2.2E-13 0.100 None 0 0
Entrez Id: 4796
Gene Symbol: TONSL
TONSL
Q96HA7 tonsoku like, DNA repair protein 67 0.653 0.615 2.6E-13 0.100 None 0 0
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
Q16134 electron transfer flavoprotein dehydrogenase Enzyme 59 0.678 0.462 2.8E-13 0.100 None 0 0
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
Q9H0W8 SMG9 nonsense mediated mRNA decay factor 48 0.729 0.346 3.5E-13 0.100 None 0 0
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
P35475 alpha-L-iduronidase Enzyme 258 0.499 0.846 3.8E-13 0.100 None 0 0
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Q9UBM7 7-dehydrocholesterol reductase Enzyme 266 0.500 0.846 3.9E-13 0.100 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7
O00628 peroxisomal biogenesis factor 7 100 0.603 0.615 8.2E-13 0.100 None 0 0
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
Q15643 thyroid hormone receptor interactor 11 148 0.595 0.654 1.7E-12 0.100 None 0 2
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24
Q6NUK1 solute carrier family 25 member 24 Transporter 141 0.575 0.731 3.4E-12 0.100 None 0 0
Entrez Id: 55112
Gene Symbol: WDR60
WDR60
Q8WVS4 WD repeat domain 60 Cellular structure 91 0.592 0.654 4.3E-12 0.100 None 0 0
Entrez Id: 2314
Gene Symbol: FLII
FLII
Q13045 FLII actin remodeling protein 198 0.520 0.808 5.5E-12 0.100 None 0 0