Source: CURATED ×
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 40 0.508 0.846 0.93 0.600 strong 1.000 2 0 2009 2018
Entrez Id: 57674
Gene Symbol: RNF213
RNF213
Q63HN8 ring finger protein 213 3 0.628 0.538 4.9E-55 0.500 None 0.953 3 5 2011 2020
Entrez Id: 79184
Gene Symbol: BRCC3
BRCC3
P46736 BRCA1/BRCA2-containing complex subunit 3 Enzyme 2 0.686 0.500 6.4E-03 0.340 limited 1.000 1 0 2011 2017
Entrez Id: 2006
Gene Symbol: ELN
ELN
P15502 elastin 24 0.415 0.885 2.1E-14 0.320 limited 1.000 1 0 1993 2016
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
P01911 major histocompatibility complex, class II, DR beta 1 Immune response 68 0.333 0.923 1.1E-03 0.320 limited 1.000 1 0 2011 2019
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1
P01920 major histocompatibility complex, class II, DQ beta 1 Immune response 38 0.407 0.885 8.9E-03 0.310 limited 1.000 1 0 1997 2019
Entrez Id: 182
Gene Symbol: JAG1
JAG1
P78504 jagged canonical Notch ligand 1 35 0.429 0.808 1.00 0.300 limited 1.000 1 0 2012 2012
Entrez Id: 5116
Gene Symbol: PCNT
PCNT
O95613 pericentrin 14 0.564 0.808 4.0E-58 0.300 moderate 1.000 1 0 2004 2004
Entrez Id: 4763
Gene Symbol: NF1
NF1
P21359 neurofibromin 1 Enzyme modulator 77 0.440 0.885 0.90 0.300 moderate 1.000 1 0 2000 2000
Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
P01889 major histocompatibility complex, class I, B 42 0.379 0.885 3.9E-05 0.300 limited 1.000 1 0 2003 2003
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1
Q9Y3Z3 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 12 0.547 0.769 6.5E-13 0.300 strong 1.000 1 0 2010 2010
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
O95528 solute carrier family 2 member 10 Transporter 8 0.550 0.615 1.6E-08 0.300 strong 1.000 1 0 2006 2006
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 10 0.540 0.654 5.6E-35 0.300 limited 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
Q04656 ATPase copper transporting alpha Transporter 90 0.494 0.769 1.00 0.300 limited 0 0
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1
Q92743 HtrA serine peptidase 1 Enzyme 16 0.532 0.692 4.9E-04 0.300 limited 0 0
Entrez Id: 2717
Gene Symbol: GLA
GLA
P06280 galactosidase alpha 15 0.537 0.769 1.00 0.300 limited 0 0