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: 5144
Gene Symbol: PDE4D
PDE4D
Q08499 phosphodiesterase 4D 210 0.519 0.846 1.00 0.100 None 0 0
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
P08559 pyruvate dehydrogenase E1 subunit alpha 1 129 0.581 0.538 0.99 0.100 None 0 1
Entrez Id: 51601
Gene Symbol: LIPT1
LIPT1
Q9Y234 lipoyltransferase 1 Enzyme 55 0.674 0.462 3.8E-08 0.100 None 0 0
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
Q8N6M0 OTU deubiquitinase 6B Enzyme 76 0.659 0.538 1.3E-07 0.100 None 0 0
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1
Q9NZ71 regulator of telomere elongation helicase 1 Enzyme 321 0.459 0.808 8.9E-10 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
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 1
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
Q13608 peroxisomal biogenesis factor 6 232 0.547 0.731 6.3E-06 0.100 None 0 0
Entrez Id: 5194
Gene Symbol: PEX13
PEX13
Q92968 peroxisomal biogenesis factor 13 132 0.597 0.654 5.9E-05 0.100 None 0 0
Entrez Id: 5205
Gene Symbol: ATP8B1
ATP8B1
O43520 ATPase phospholipid transporting 8B1 Transporter 70 0.610 0.500 2.8E-10 0.100 None 0 0
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 121 0.595 0.769 1.00 0.100 None 0 1
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
Q9NW38 FA complementation group L Enzyme 137 0.551 0.731 5.9E-23 0.100 None 0 0
Entrez Id: 55135
Gene Symbol: WRAP53
WRAP53
Q9BUR4 WD repeat containing antisense to TP53 103 0.603 0.692 5.4E-05 0.100 None 0 0
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22
P82650 mitochondrial ribosomal protein S22 78 0.638 0.500 1.5E-05 0.100 None 0 0
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
Q8NI60 coenzyme Q8A Kinase 64 0.674 0.385 9.3E-11 0.100 None 0 0
Entrez Id: 57061
Gene Symbol: HYMAI
HYMAI
hydatidiform mole associated and imprinted 61 0.670 0.538 0.100 None 0 0
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
Q96KN7 RPGR interacting protein 1 Enzyme modulator 121 0.553 0.654 1.3E-23 0.100 None 0 0
Entrez Id: 57122
Gene Symbol: NUP107
NUP107
P57740 nucleoporin 107 Transporter 98 0.595 0.500 2.6E-09 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
P60484 phosphatase and tensin homolog Enzyme 1349 0.305 0.923 0.26 0.100 None 0 0
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
Q03431 parathyroid hormone 1 receptor G-protein coupled receptor 187 0.544 0.731 0.57 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
Q8NFD5 AT-rich interaction domain 1B 270 0.503 0.846 1.00 0.100 None 0 1
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
Q8IYD8 FA complementation group M Enzyme 147 0.543 0.731 2.4E-15 0.100 None 0 0
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.100 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.100 None 0 0