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: 4000
Gene Symbol: LMNA
LMNA
P02545 lamin A/C 824 0.384 0.885 1.00 0.110 None 1.000 1 1 2016 2016
Entrez Id: 5741
Gene Symbol: PTH
PTH
P01270 parathyroid hormone 528 0.397 0.846 1.2E-02 0.010 None 1.000 1 0 2020 2020
Entrez Id: 6094
Gene Symbol: ROM1
ROM1
Q03395 retinal outer segment membrane protein 1 117 0.579 0.654 4.1E-04 0.010 None 1.000 1 0 2019 2019
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.100 None 0 0
Entrez Id: 10243
Gene Symbol: GPHN
GPHN
Q9NQX3 gephyrin 104 0.608 0.538 1.00 0.100 None 0 0
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
Q15427 splicing factor 3b subunit 4 110 0.576 0.615 0.99 0.100 None 0 0
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
O75398 DEAF1 transcription factor 156 0.575 0.615 3.4E-04 0.100 None 0 0
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
Q6ZRS2 Snf2 related CREBBP activator protein 118 0.610 0.731 1.00 0.100 None 0 0
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
Q7Z6L0 proline rich transmembrane protein 2 353 0.448 0.808 0.58 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
P02452 collagen type I alpha 1 chain 487 0.430 0.808 1.00 0.100 None 0 0
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
P08123 collagen type I alpha 2 chain 271 0.486 0.846 1.00 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: 128637
Gene Symbol: TBC1D20
TBC1D20
Q96BZ9 TBC1 domain family member 20 79 0.621 0.500 0.93 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
P13942 collagen type XI alpha 2 chain 399 0.435 0.846 0.70 0.100 None 0 0
Entrez Id: 1311
Gene Symbol: COMP
COMP
P49747 cartilage oligomeric matrix protein 230 0.503 0.808 1.3E-09 0.100 None 0 0
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 108 0.628 0.577 6.3E-08 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN
P15502 elastin 545 0.415 0.885 2.1E-14 0.100 None 0 0
Entrez Id: 2010
Gene Symbol: EMD
EMD
P50402 emerin 163 0.542 0.731 0.93 0.100 None 0 0
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
P28715 ERCC excision repair 5, endonuclease 238 0.499 0.731 2.7E-13 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 257 0.507 0.808 5.2E-22 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
P51648 aldehyde dehydrogenase 3 family member A2 78 0.619 0.769 9.4E-06 0.100 None 0 0
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
Q13642 four and a half LIM domains 1 195 0.532 0.731 0.97 0.100 None 0 0
Entrez Id: 22930
Gene Symbol: RAB3GAP1
RAB3GAP1
Q15042 RAB3 GTPase activating protein catalytic subunit 1 138 0.566 0.692 1.5E-07 0.100 None 0 0
Entrez Id: 22931
Gene Symbol: RAB18
RAB18
Q9NP72 RAB18, member RAS oncogene family 113 0.582 0.692 0.91 0.100 None 0 0
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
Q5JU85 IQ motif and Sec7 domain ArfGEF 2 155 0.573 0.577 1.00 0.100 None 0 0