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: 4763
Gene Symbol: NF1
NF1
P21359 neurofibromin 1 Enzyme modulator 380 0.440 0.885 0.90 0.030 None 1.000 3 0 1992 2011
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
P08F94 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 115 0.576 0.654 1.2E-47 0.050 None 1.000 5 0 1993 2017
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.020 None 1.000 2 0 1993 2018
Entrez Id: 7450
Gene Symbol: VWF
VWF
P04275 von Willebrand factor Enzyme modulator 498 0.408 0.885 3.2E-25 0.020 None 1.000 2 0 1993 1999
Entrez Id: 1950
Gene Symbol: EGF
EGF
P01133 epidermal growth factor 774 0.357 0.923 8.5E-17 0.010 None 1.000 1 0 1993 1993
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
P26367 paired box 6 340 0.450 0.769 1.00 0.100 None 1.000 20 0 1994 2019
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Q9UBM7 7-dehydrocholesterol reductase Enzyme 266 0.500 0.846 3.9E-13 0.100 None 1.000 17 0 1994 2020
Entrez Id: 367
Gene Symbol: AR
AR
P10275 androgen receptor Nuclear receptor 854 0.351 0.846 0.99 0.070 None 1.000 7 0 1994 2019
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
Q9UBC3 DNA methyltransferase 3 beta 315 0.453 0.846 0.20 0.040 None 1.000 4 0 1994 2000
Entrez Id: 2006
Gene Symbol: ELN
ELN
P15502 elastin 545 0.415 0.885 2.1E-14 0.020 None 1.000 2 0 1994 2018
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
Q12882 dihydropyrimidine dehydrogenase Enzyme 249 0.493 0.846 3.4E-22 0.010 None 1.000 1 0 1994 1994
Entrez Id: 1807
Gene Symbol: DPYS
DPYS
Q14117 dihydropyrimidinase Enzyme 63 0.621 0.577 2.8E-11 0.010 None 1.000 1 0 1994 1994
Entrez Id: 4656
Gene Symbol: MYOG
MYOG
P15173 myogenin Transcription factor 56 0.623 0.615 0.90 0.010 None 1.000 1 0 1994 1994
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
O43435 T-box transcription factor 1 Transcription factor 417 0.433 0.808 0.84 0.100 None 1.000 21 0 1995 2020
Entrez Id: 7490
Gene Symbol: WT1
WT1
P19544 WT1 transcription factor Nucleic acid binding 446 0.422 0.808 1.00 0.080 None 1.000 8 0 1995 2017
Entrez Id: 2688
Gene Symbol: GH1
GH1
P01241 growth hormone 1 Signaling 686 0.373 0.923 3.0E-02 0.060 None 1.000 6 0 1995 2019
Entrez Id: 1714
Gene Symbol: DGCR
DGCR
DiGeorge syndrome chromosome region 38 0.678 0.538 0.030 None 1.000 3 0 1995 2002
Entrez Id: 43
Gene Symbol: ACHE
ACHE
P22303 acetylcholinesterase (Cartwright blood group) Enzyme 418 0.445 0.885 1.00 0.030 None 1.000 3 0 1995 2019
Entrez Id: 2252
Gene Symbol: FGF7
FGF7
P21781 fibroblast growth factor 7 Signaling 167 0.519 0.846 0.77 0.020 None 1.000 2 0 1995 1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
P21802 fibroblast growth factor receptor 2 Kinase 731 0.380 0.808 1.00 0.100 None 0.900 10 2 1996 2019
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
P15692 vascular endothelial growth factor A Signaling 1899 0.266 0.923 2.4E-05 0.100 None 1.000 10 0 1996 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
P22607 fibroblast growth factor receptor 3 Kinase 654 0.391 0.846 1.6E-05 0.080 None 1.000 8 2 1996 2018
Entrez Id: 6469
Gene Symbol: SHH
SHH
Q15465 sonic hedgehog signaling molecule 303 0.461 0.846 0.98 0.070 None 1.000 7 0 1996 2017
Entrez Id: 7468
Gene Symbol: NSD2
NSD2
O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 224 0.507 0.769 1.00 0.030 None 1.000 3 0 1996 2019
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
Q00597 FA complementation group C 218 0.507 0.808 2.8E-13 0.020 None 1.000 2 0 1996 2005