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: 100
Gene Symbol: ADA
ADA
P00813 adenosine deaminase Enzyme 379 0.440 0.885 2.9E-12 0.100 None 0 0
Entrez Id: 686
Gene Symbol: BTD
BTD
P43251 biotinidase Enzyme 90 0.628 0.654 1.5E-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: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.100 None 0 0
Entrez Id: 5897
Gene Symbol: RAG2
RAG2
P55895 recombination activating 2 207 0.507 0.769 2.0E-02 0.100 None 0 0
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
P15918 recombination activating 1 Enzyme 209 0.509 0.769 2.8E-05 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 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: 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: 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: 3141
Gene Symbol: HLCS
HLCS
P50747 holocarboxylase synthetase Enzyme 63 0.650 0.654 1.9E-08 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA
P04062 glucosylceramidase beta 319 0.500 0.808 1.4E-06 0.100 None 0 0
Entrez Id: 10999
Gene Symbol: SLC27A4
SLC27A4
Q6P1M0 solute carrier family 27 member 4 Transporter 72 0.608 0.769 4.5E-05 0.100 None 0 0
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
P22735 transglutaminase 1 Enzyme 117 0.565 0.769 2.3E-13 0.100 None 0 0