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: 217
Gene Symbol: ALDH2
ALDH2
P05091 aldehyde dehydrogenase 2 family member Enzyme 337 0.457 0.885 3.4E-10 0.010 None 1.000 1 0 2014 2014
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
P35475 alpha-L-iduronidase Enzyme 258 0.499 0.846 3.8E-13 0.010 None 1.000 1 0 2017 2017
Entrez Id: 25842
Gene Symbol: ASF1A
ASF1A
Q9Y294 anti-silencing function 1A histone chaperone Nucleic acid binding 36 0.670 0.615 0.81 0.010 None 1.000 1 0 2018 2018
Entrez Id: 51107
Gene Symbol: APH1A
APH1A
Q96BI3 aph-1 homolog A, gamma-secretase subunit Enzyme modulator 45 0.656 0.538 0.79 0.010 None 1.000 1 0 2018 2018
Entrez Id: 79058
Gene Symbol: ASPSCR1
ASPSCR1
Q9BZE9 ASPSCR1 tether for SLC2A4, UBX domain containing 54 0.653 0.538 4.4E-12 0.010 None 1.000 1 0 2019 2019
Entrez Id: 56987
Gene Symbol: BBX
BBX
Q8WY36 BBX high mobility group box domain containing 16 0.839 0.231 0.52 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
O76090 bestrophin 1 Ion channel 292 0.465 0.885 1.8E-12 0.010 None 1.000 1 0 2017 2017
Entrez Id: 650
Gene Symbol: BMP2
BMP2
P12643 bone morphogenetic protein 2 Signaling 428 0.432 0.846 0.99 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1401
Gene Symbol: CRP
CRP
P02741 C-reactive protein 1483 0.299 0.962 3.7E-03 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7123
Gene Symbol: CLEC3B
CLEC3B
P05452 C-type lectin domain family 3 member B Extracellular structure 27 0.729 0.308 2.1E-03 0.010 None 1.000 1 0 2018 2018
Entrez Id: 811
Gene Symbol: CALR
CALR
P27797 calreticulin Calcium-binding protein 487 0.413 0.923 0.89 0.010 None 1.000 1 0 2017 2017
Entrez Id: 822
Gene Symbol: CAPG
CAPG
P40121 capping actin protein, gelsolin like Cellular structure 111 0.548 0.731 9.4E-14 0.010 None 1.000 1 0 2018 2018
Entrez Id: 10306
Gene Symbol: CTPP
CTPP
Cataract, posterior polar 18 0.736 0.385 0.010 None 1.000 1 0 2018 2018
Entrez Id: 952
Gene Symbol: CD38
CD38
P28907 CD38 molecule Enzyme 473 0.407 0.885 2.3E-06 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4179
Gene Symbol: CD46
CD46
P15529 CD46 molecule 258 0.477 0.808 4.7E-07 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1604
Gene Symbol: CD55
CD55
P08174 CD55 molecule (Cromer blood group) 187 0.510 0.808 5.7E-12 0.010 None 1.000 1 0 2019 2019
Entrez Id: 923
Gene Symbol: CD6
CD6
P30203 CD6 molecule Enzyme 216 0.489 0.808 9.3E-05 0.010 None 1.000 1 0 2019 2019
Entrez Id: 56994
Gene Symbol: CHPT1
CHPT1
Q8WUD6 choline phosphotransferase 1 Enzyme 253 0.474 0.846 2.4E-04 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1610
Gene Symbol: DAO
DAO
P14920 D-amino acid oxidase 78 0.636 0.615 6.2E-22 0.010 None 1.000 1 0 2017 2017
Entrez Id: 79947
Gene Symbol: DHDDS
DHDDS
Q86SQ9 dehydrodolichyl diphosphate synthase subunit Enzyme 308 0.468 0.885 0.25 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
O75923 dysferlin Transporter 144 0.582 0.692 3.7E-33 0.010 None 1.000 1 0 2010 2010
Entrez Id: 1756
Gene Symbol: DMD
DMD
P11532 dystrophin 484 0.423 0.923 1.00 0.020 None 0.500 2 0 2009 2017
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
P29317 EPH receptor A2 Kinase 187 0.501 0.731 1.1E-05 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2048
Gene Symbol: EPHB2
EPHB2
P29323 EPH receptor B2 Kinase 649 0.374 0.846 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.010 None 1.000 1 0 2010 2010