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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.100 None 0 0
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		P13569 CF transmembrane conductance regulator Ion channel 476 0.424 0.885 2.2E-58 0.100 None 0 0
Entrez Id: 472
Gene Symbol: ATM
ATM 		Q13315 ATM serine/threonine kinase Kinase 684 0.374 0.885 5.6E-47 0.100 None 0 1
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5 		Q9NQ38 serine peptidase inhibitor Kazal type 5 Enzyme modulator 93 0.604 0.654 4.8E-28 0.100 None 0 0
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13 		Q9UJS0 solute carrier family 25 member 13 Transporter 109 0.617 0.500 1.3E-24 0.100 None 0 0
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1 		O00754 mannosidase alpha class 2B member 1 66 0.674 0.462 4.8E-22 0.100 None 0 0
Entrez Id: 1380
Gene Symbol: CR2
CR2 		P20023 complement C3d receptor 2 123 0.556 0.654 4.7E-19 0.100 None 0 0
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B 		O14836 TNF receptor superfamily member 13B 137 0.558 0.769 2.1E-15 0.100 None 0 0
Entrez Id: 219285
Gene Symbol: SAMD9L
SAMD9L 		Q8IVG5 sterile alpha motif domain containing 9 like 49 0.700 0.500 5.6E-15 0.100 None 0 0
Entrez Id: 22802
Gene Symbol: CLCA4
CLCA4 		Q14CN2 chloride channel accessory 4 Ion channel 29 0.729 0.385 7.0E-15 0.100 None 0 0
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65 		Q8NCR3 chromosome 11 open reading frame 65 45 0.670 0.462 2.0E-14 0.100 None 0 1
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: 1604
Gene Symbol: CD55
CD55 		P08174 CD55 molecule (Cromer blood group) 187 0.510 0.808 5.7E-12 0.100 None 0 0
Entrez Id: 7841
Gene Symbol: MOGS
MOGS 		Q13724 mannosyl-oligosaccharide glucosidase 64 0.626 0.731 5.8E-11 0.100 None 0 0
Entrez Id: 9508
Gene Symbol: ADAMTS3
ADAMTS3 		O15072 ADAM metallopeptidase with thrombospondin type 1 motif 3 Enzyme 116 0.581 0.808 1.0E-10 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: 79087
Gene Symbol: ALG12
ALG12 		Q9BV10 ALG12 alpha-1,6-mannosyltransferase Enzyme 49 0.705 0.500 1.2E-07 0.100 None 0 0
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1 		Q6UXH8 collagen and calcium binding EGF domains 1 Calcium-binding protein 127 0.585 0.769 1.5E-07 0.100 None 0 0
Entrez Id: 9056
Gene Symbol: SLC7A7
SLC7A7 		Q9UM01 solute carrier family 7 member 7 Transporter 122 0.603 0.654 8.0E-07 0.100 None 0 0
Entrez Id: 83483
Gene Symbol: PLVAP
PLVAP 		Q9BX97 plasmalemma vesicle associated protein 40 0.695 0.538 2.3E-06 0.100 None 0 0
Entrez Id: 3981
Gene Symbol: LIG4
LIG4 		P49917 DNA ligase 4 293 0.478 0.846 4.2E-06 0.100 None 1.000 2 1 2001 2014
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3 		O43909 exostosin like glycosyltransferase 3 84 0.599 0.731 2.5E-05 0.100 None 0 0
Entrez Id: 931
Gene Symbol: MS4A1
MS4A1 		P11836 membrane spanning 4-domains A1 Receptor 451 0.411 0.846 5.1E-05 0.100 None 0 0
Entrez Id: 204
Gene Symbol: AK2
AK2 		P54819 adenylate kinase 2 Kinase 54 0.678 0.423 6.3E-05 0.100 None 0 0