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: 59
Gene Symbol: ACTA2
ACTA2
P62736 actin alpha 2, smooth muscle Cellular structure 200 0.508 0.846 0.93 0.600 strong 1.000 12 2 2009 2018
Entrez Id: 57674
Gene Symbol: RNF213
RNF213
Q63HN8 ring finger protein 213 59 0.628 0.538 4.9E-55 0.500 None 0.953 86 9 2011 2020
Entrez Id: 79184
Gene Symbol: BRCC3
BRCC3
P46736 BRCA1/BRCA2-containing complex subunit 3 Enzyme 33 0.686 0.500 6.4E-03 0.340 limited 1.000 4 0 2011 2017
Entrez Id: 2006
Gene Symbol: ELN
ELN
P15502 elastin 545 0.415 0.885 2.1E-14 0.320 limited 1.000 3 0 1993 2016
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
P01911 major histocompatibility complex, class II, DR beta 1 Immune response 1018 0.333 0.923 1.1E-03 0.320 limited 1.000 3 0 2011 2019
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1
P01920 major histocompatibility complex, class II, DQ beta 1 Immune response 504 0.407 0.885 8.9E-03 0.310 limited 1.000 2 0 1997 2019
Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
P01889 major histocompatibility complex, class I, B 706 0.379 0.885 3.9E-05 0.300 limited 1.000 1 0 2003 2003
Entrez Id: 182
Gene Symbol: JAG1
JAG1
P78504 jagged canonical Notch ligand 1 420 0.429 0.808 1.00 0.300 limited 1.000 1 0 2012 2012
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1
Q9Y3Z3 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 169 0.547 0.769 6.5E-13 0.300 strong 1.000 1 0 2010 2010
Entrez Id: 4763
Gene Symbol: NF1
NF1
P21359 neurofibromin 1 Enzyme modulator 380 0.440 0.885 0.90 0.300 moderate 1.000 1 0 2000 2000
Entrez Id: 5116
Gene Symbol: PCNT
PCNT
O95613 pericentrin 156 0.564 0.808 4.0E-58 0.300 moderate 1.000 1 0 2004 2004
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
O95528 solute carrier family 2 member 10 Transporter 135 0.550 0.615 1.6E-08 0.300 strong 1.000 1 0 2006 2006
Entrez Id: 2717
Gene Symbol: GLA
GLA
P06280 galactosidase alpha 190 0.537 0.769 1.00 0.300 limited 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
Q04656 ATPase copper transporting alpha Transporter 348 0.494 0.769 1.00 0.300 limited 0 0
Entrez Id: 50960
Gene Symbol: MYMY1
MYMY1
moyamoya disease 1 1 1.000 0.077 0.300 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
O95255 ATP binding cassette subfamily C member 6 Transporter 181 0.540 0.654 5.6E-35 0.300 limited 0 0
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1
Q92743 HtrA serine peptidase 1 Enzyme 164 0.532 0.692 4.9E-04 0.300 limited 0 0
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
P42898 methylenetetrahydrofolate reductase 985 0.337 0.885 3.2E-10 0.110 None 1.000 2 3 2014 2018
Entrez Id: 27293
Gene Symbol: SMPDL3B
SMPDL3B
Q92485 sphingomyelin phosphodiesterase acid like 3B Enzyme 7 0.861 0.192 2.4E-09 0.100 None 1.000 1 1 2018 2018
Entrez Id: 57521
Gene Symbol: RPTOR
RPTOR
Q8N122 regulatory associated protein of MTOR complex 1 60 0.628 0.692 1.00 0.100 None 1.000 1 1 2018 2018
Entrez Id: 79092
Gene Symbol: CARD14
CARD14
Q9BXL6 caspase recruitment domain family member 14 126 0.546 0.846 1.2E-19 0.100 None 1.000 1 1 2018 2018
Entrez Id: 57486
Gene Symbol: NLN
NLN
Q9BYT8 neurolysin Enzyme 74 0.597 0.731 3.9E-12 0.100 None 1.000 1 1 2018 2018
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 123 0.579 0.731 1.5E-15 0.100 None 1.000 1 1 2018 2018
Entrez Id: 4035
Gene Symbol: LRP1
LRP1
Q07954 LDL receptor related protein 1 252 0.482 0.769 1.00 0.100 None 1.000 1 1 2018 2018
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
P20062 transcobalamin 2 104 0.578 0.615 1.0E-06 0.100 None 1.000 1 1 2018 2018