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: 113235
Gene Symbol: SLC46A1
SLC46A1 		Q96NT5 solute carrier family 46 member 1 Transporter 97 0.606 0.731 2.2E-02 0.440 None 1.000 5 0 2006 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		P13569 CF transmembrane conductance regulator Ion channel 476 0.424 0.885 2.2E-58 0.170 None 1.000 7 0 2008 2017
Entrez Id: 2694
Gene Symbol: CBLIF
CBLIF 		P27352 cobalamin binding intrinsic factor 185 0.507 0.808 2.5E-04 0.140 None 1.000 4 0 1985 2000
Entrez Id: 4547
Gene Symbol: MTTP
MTTP 		P55157 microsomal triglyceride transfer protein Transporter 209 0.505 0.846 1.0E-05 0.130 None 1.000 3 0 2009 2012
Entrez Id: 6476
Gene Symbol: SI
SI 		P14410 sucrase-isomaltase Enzyme 117 0.569 0.692 3.9E-60 0.130 None 1.000 3 0 2006 2019
Entrez Id: 50674
Gene Symbol: NEUROG3
NEUROG3 		Q9Y4Z2 neurogenin 3 Enzyme 49 0.647 0.500 6.0E-06 0.120 None 1.000 2 0 2006 2020
Entrez Id: 222546
Gene Symbol: RFX6
RFX6 		Q8HWS3 regulatory factor X6 Transcription factor 39 0.686 0.385 4.1E-04 0.110 None 1.000 1 0 2019 2019
Entrez Id: 5122
Gene Symbol: PCSK1
PCSK1 		P29120 proprotein convertase subtilisin/kexin type 1 Enzyme 140 0.548 0.615 2.7E-09 0.110 None 1.000 1 0 2013 2013
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19 		Q695T7 solute carrier family 6 member 19 54 0.695 0.577 1.8E-24 0.110 None 1.000 1 0 2019 2019
Entrez Id: 6523
Gene Symbol: SLC5A1
SLC5A1 		P13866 solute carrier family 5 member 1 Transporter 94 0.584 0.654 8.7E-08 0.110 None 1.000 1 0 2019 2019
Entrez Id: 170302
Gene Symbol: ARX
ARX 		Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.110 None 1.000 1 0 2018 2018
Entrez Id: 5378
Gene Symbol: PMS1
PMS1 		P54277 PMS1 homolog 1, mismatch repair system component Nucleic acid binding 115 0.569 0.654 1.3E-17 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: 538
Gene Symbol: ATP7A
ATP7A 		Q04656 ATPase copper transporting alpha Transporter 348 0.494 0.769 1.00 0.100 None 0 0
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1511 0.292 0.923 1.00 0.100 None 0 0
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 244 0.484 0.808 4.5E-27 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		P21439 ATP binding cassette subfamily B member 4 Transporter 157 0.529 0.615 2.2E-07 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		Q32P41 tRNA methyltransferase 5 Enzyme 28 0.769 0.231 5.0E-02 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		P50542 peroxisomal biogenesis factor 5 Transporter 174 0.561 0.731 5.6E-05 0.100 None 0 0
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2 		Q08J23 NOP2/Sun RNA methyltransferase 2 Enzyme 173 0.559 0.846 2.6E-04 0.100 None 0 0
Entrez Id: 567
Gene Symbol: B2M
B2M 		P61769 beta-2-microglobulin Immune response 352 0.447 0.846 0.56 0.100 None 0 0
Entrez Id: 56262
Gene Symbol: LRRC8A
LRRC8A 		Q8IWT6 leucine rich repeat containing 8 VRAC subunit A 64 0.644 0.692 0.94 0.100 None 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		Q7Z412 peroxisomal biogenesis factor 26 132 0.584 0.615 0.93 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19 		P40855 peroxisomal biogenesis factor 19 Storage 134 0.585 0.731 3.2E-04 0.100 None 0 0
Entrez Id: 55651
Gene Symbol: NHP2
NHP2 		Q9NX24 NHP2 ribonucleoprotein Nucleic acid binding 91 0.623 0.654 5.0E-02 0.100 None 0 0