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: 81794
Gene Symbol: ADAMTS10
ADAMTS10
Q9H324 ADAM metallopeptidase with thrombospondin type 1 motif 10 Enzyme 67 0.641 0.500 0.84 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
Q86TH1 ADAMTS like 2 Enzyme 61 0.666 0.346 1.6E-03 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: 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: 118429
Gene Symbol: ANTXR2
ANTXR2
P58335 ANTXR cell adhesion molecule 2 Receptor 143 0.568 0.808 8.7E-02 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
O60706 ATP binding cassette subfamily C member 9 Transporter 175 0.552 0.692 9.4E-09 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: 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: 1277
Gene Symbol: COL1A1
COL1A1
P02452 collagen type I alpha 1 chain 487 0.430 0.808 1.00 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: 3981
Gene Symbol: LIG4
LIG4
P49917 DNA ligase 4 293 0.478 0.846 4.2E-06 0.100 None 0 0
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
Q16610 extracellular matrix protein 1 120 0.576 0.731 4.7E-14 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.100 None 0 1
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
P15976 GATA binding protein 1 264 0.483 0.808 0.95 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: 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: 3832
Gene Symbol: KIF11
KIF11
P52732 kinesin family member 11 Cellular structure 156 0.560 0.769 1.00 0.100 None 0 0
Entrez Id: 3815
Gene Symbol: KIT
KIT
P10721 KIT proto-oncogene, receptor tyrosine kinase Kinase 715 0.366 0.808 0.98 0.100 None 0 0
Entrez Id: 51574
Gene Symbol: LARP7
LARP7
Q4G0J3 La ribonucleoprotein 7, transcriptional regulator Nucleic acid binding 57 0.674 0.615 9.3E-08 0.100 None 0 0
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
Q14767 latent transforming growth factor beta binding protein 2 Calcium-binding protein 106 0.572 0.692 7.4E-04 0.100 None 0 0
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
Q9NS15 latent transforming growth factor beta binding protein 3 Calcium-binding protein 150 0.564 0.846 0.69 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
P08253 matrix metallopeptidase 2 Enzyme 1021 0.333 0.923 0.84 0.100 None 0 0
Entrez Id: 10982
Gene Symbol: MAPRE2
MAPRE2
Q15555 microtubule associated protein RP/EB family member 2 Cellular structure 71 0.636 0.692 0.83 0.100 None 0 0
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 139 0.592 0.731 7.7E-19 0.100 None 0 0
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
P04629 neurotrophic receptor tyrosine kinase 1 Kinase 443 0.422 0.808 2.0E-06 0.100 None 0 0