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: 545
Gene Symbol: ATR
ATR 		Q13535 ATR serine/threonine kinase Kinase 321 0.456 0.923 3.5E-09 0.100 None 0 0
Entrez Id: 54453
Gene Symbol: RIN2
RIN2 		Q8WYP3 Ras and Rab interactor 2 Enzyme modulator 86 0.623 0.692 8.1E-04 0.100 None 0 0
Entrez Id: 54345
Gene Symbol: SOX18
SOX18 		P35713 SRY-box transcription factor 18 Transcription factor 112 0.578 0.692 0.15 0.100 None 0 0
Entrez Id: 1643
Gene Symbol: DDB2
DDB2 		Q92466 damage specific DNA binding protein 2 Nucleic acid binding 118 0.576 0.654 7.4E-06 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC 		Q15149 plectin Cellular structure 218 0.523 0.808 8.3E-12 0.100 None 0 0
Entrez Id: 5317
Gene Symbol: PKP1
PKP1 		Q13835 plakophilin 1 Cellular structure 54 0.659 0.462 5.8E-04 0.100 None 0 0
Entrez Id: 1736
Gene Symbol: DKC1
DKC1 		O60832 dyskerin pseudouridine synthase 1 Nucleic acid binding 168 0.547 0.769 1.00 0.100 None 0 0
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1 		P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 285 0.477 0.885 1.00 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: 2068
Gene Symbol: ERCC2
ERCC2 		P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 499 0.420 0.846 7.1E-20 0.100 None 0 2
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3 		P19447 ERCC excision repair 3, TFIIH core complex helicase subunit Enzyme 253 0.504 0.846 3.4E-11 0.100 None 0 0
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 325 0.468 0.846 1.4E-12 0.100 None 0 0
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG 		P31785 interleukin 2 receptor subunit gamma Signaling 164 0.535 0.769 0.99 0.100 None 0 0
Entrez Id: 2512
Gene Symbol: FTL
FTL 		P02792 ferritin light chain Storage 135 0.559 0.692 1.7E-09 0.100 None 0 0
Entrez Id: 2531
Gene Symbol: KDSR
KDSR 		Q06136 3-ketodihydrosphingosine reductase 52 0.674 0.538 0.12 0.100 None 0 0
Entrez Id: 2535
Gene Symbol: FZD2
FZD2 		Q14332 frizzled class receptor 2 G-protein coupled receptor 139 0.558 0.654 0.65 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		Q06330 recombination signal binding protein for immunoglobulin kappa J region Nucleic acid binding 161 0.518 0.808 1.00 0.100 None 0 0
Entrez Id: 348938
Gene Symbol: NIPAL4
NIPAL4 		Q0D2K0 NIPA like domain containing 4 42 0.682 0.423 1.4E-03 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		Q86UK0 ATP binding cassette subfamily A member 12 Transporter 85 0.610 0.654 2.9E-15 0.100 None 0 0
Entrez Id: 3141
Gene Symbol: HLCS
HLCS 		P50747 holocarboxylase synthetase Enzyme 63 0.650 0.654 1.9E-08 0.100 None 0 0
Entrez Id: 3122
Gene Symbol: HLA-DRA
HLA-DRA 		P01903 major histocompatibility complex, class II, DR alpha Immune response 92 0.581 0.769 0.52 0.100 None 0 0
Entrez Id: 26277
Gene Symbol: TINF2
TINF2 		Q9BSI4 TERF1 interacting nuclear factor 2 158 0.575 0.731 1.3E-03 0.100 None 0 0
Entrez Id: 3077
Gene Symbol: HFE
HFE 		Q30201 homeostatic iron regulator 415 0.436 0.846 2.6E-08 0.100 None 0 0
Entrez Id: 285848
Gene Symbol: PNPLA1
PNPLA1 		Q8N8W4 patatin like phospholipase domain containing 1 Enzyme 28 0.700 0.423 1.9E-04 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		P17302 gap junction protein alpha 1 Cell-cell junction 662 0.393 0.885 0.16 0.100 None 0 0