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: 65057
Gene Symbol: ACD
ACD
Q96AP0 ACD shelterin complex subunit and telomerase recruitment factor 96 0.603 0.731 1.1E-12 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2
P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 93 0.631 0.615 0.87 0.100 None 0 0
Entrez Id: 103
Gene Symbol: ADAR
ADAR
P55265 adenosine deaminase RNA specific Enzyme 256 0.501 0.808 2.6E-02 0.100 None 0 0
Entrez Id: 351
Gene Symbol: APP
APP
P05067 amyloid beta precursor protein Enzyme modulator 485 0.422 0.846 4.7E-02 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
Q5JTC6 APC membrane recruitment protein 1 134 0.570 0.654 0.85 0.100 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 0.100 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: 477
Gene Symbol: ATP1A2
ATP1A2
P50993 ATPase Na+/K+ transporting subunit alpha 2 Transporter 102 0.597 0.615 1.8E-04 0.100 None 0 2
Entrez Id: 326
Gene Symbol: AIRE
AIRE
O43918 autoimmune regulator 175 0.516 0.808 4.0E-12 0.100 None 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF
P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1228 0.319 0.846 1.00 0.100 None 0 0
Entrez Id: 760
Gene Symbol: CA2
CA2
P00918 carbonic anhydrase 2 210 0.506 0.808 1.7E-06 0.100 None 0 0
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
P35222 catenin beta 1 1368 0.303 0.885 1.00 0.100 None 0 0
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
P53634 cathepsin C Enzyme 139 0.541 0.731 1.1E-07 0.100 None 0 0
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
P51801 chloride voltage-gated channel Kb Ion channel 139 0.593 0.692 1.4E-22 0.100 None 0 0
Entrez Id: 79709
Gene Symbol: COLGALT1
COLGALT1
Q8NBJ5 collagen beta(1-O)galactosyltransferase 1 Enzyme 17 0.760 0.346 5.9E-08 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 496 0.444 0.846 1.00 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
P12107 collagen type XI alpha 1 chain 268 0.495 0.846 1.00 0.100 None 0 0
Entrez Id: 80169
Gene Symbol: CTC1
CTC1
Q2NKJ3 CST telomere replication complex component 1 121 0.601 0.538 1.6E-11 0.100 None 0 0
Entrez Id: 4514
Gene Symbol: COX3
COX3
P00414 cytochrome c oxidase III Enzyme 195 0.546 0.808 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1
P00395 cytochrome c oxidase subunit I Enzyme 421 0.441 0.885 0.100 None 0 0
Entrez Id: 4513
Gene Symbol: COX2
COX2
P00403 cytochrome c oxidase subunit II Enzyme 875 0.352 0.962 0.100 None 0 0
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 167 0.538 0.731 5.3E-19 0.100 None 0 0
Entrez Id: 1736
Gene Symbol: DKC1
DKC1
O60832 dyskerin pseudouridine synthase 1 Nucleic acid binding 168 0.547 0.769 1.00 0.100 None 0 0
Entrez Id: 1605
Gene Symbol: DAG1
DAG1
Q14118 dystroglycan 1 Receptor 230 0.498 0.808 0.98 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
P22413 ectonucleotide pyrophosphatase/phosphodiesterase 1 Enzyme 247 0.498 0.808 5.0E-08 0.100 None 0 0