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: 3492
Gene Symbol: IGH
IGH
immunoglobulin heavy locus 238 0.473 0.654 0.010 None 1.000 1 0 2014 2014
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: 54809
Gene Symbol: SAMD9
SAMD9
Q5K651 sterile alpha motif domain containing 9 90 0.606 0.808 1.1E-33 0.110 None 1.000 1 0 2018 2018
Entrez Id: 2984
Gene Symbol: GUCY2C
GUCY2C
P25092 guanylate cyclase 2C Kinase 88 0.599 0.577 1.4E-30 0.010 None 1.000 1 0 2016 2016
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 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: 1593
Gene Symbol: CYP27A1
CYP27A1
Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 167 0.538 0.731 5.3E-19 0.100 None 0 2
Entrez Id: 6555
Gene Symbol: SLC10A2
SLC10A2
Q12908 solute carrier family 10 member 2 Transporter 66 0.621 0.538 9.6E-17 0.100 None 0 0
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: 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: 100
Gene Symbol: ADA
ADA
P00813 adenosine deaminase Enzyme 379 0.440 0.885 2.9E-12 0.100 None 0 0
Entrez Id: 987
Gene Symbol: LRBA
LRBA
P50851 LPS responsive beige-like anchor protein 71 0.608 0.692 7.2E-12 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 0.010 None 1.000 1 0 2009 2009
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
P07686 hexosaminidase subunit beta Enzyme 62 0.644 0.654 3.5E-10 0.100 None 0 0
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
P54802 N-acetyl-alpha-glucosaminidase 152 0.546 0.769 1.4E-08 0.100 None 0 2
Entrez Id: 6813
Gene Symbol: STXBP2
STXBP2
Q15833 syntaxin binding protein 2 Transporter 37 0.686 0.500 3.0E-08 0.010 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 0.100 None 0 0
Entrez Id: 79827
Gene Symbol: CLMP
CLMP
Q9H6B4 CXADR like membrane protein 31 0.705 0.462 1.6E-07 0.100 None 0 0
Entrez Id: 64421
Gene Symbol: DCLRE1C
DCLRE1C
Q96SD1 DNA cross-link repair 1C 150 0.544 0.808 2.5E-07 0.100 None 0 0
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
P16871 interleukin 7 receptor Receptor 231 0.487 0.769 3.8E-07 0.100 None 0 0
Entrez Id: 841
Gene Symbol: CASP8
CASP8
Q14790 caspase 8 Enzyme 480 0.404 0.923 3.7E-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 0 0
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1
O95571 ETHE1 persulfide dioxygenase Enzyme 46 0.686 0.346 4.6E-06 0.100 None 0 0
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
P52333 Janus kinase 3 Kinase 194 0.505 0.731 5.9E-06 0.100 None 0 0
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
P55157 microsomal triglyceride transfer protein Transporter 209 0.505 0.846 1.0E-05 0.010 None 1.000 1 0 2013 2013