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: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.100 None 0 0
Entrez Id: 387733
Gene Symbol: IFITM5
IFITM5
A6NNB3 interferon induced transmembrane protein 5 28 0.736 0.231 2.2E-06 0.100 None 0 0
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
O15146 muscle associated receptor tyrosine kinase Kinase 146 0.570 0.769 4.2E-08 0.100 None 0 0
Entrez Id: 8443
Gene Symbol: GNPAT
GNPAT
O15228 glyceronephosphate O-acyltransferase 44 0.663 0.462 0.30 0.100 None 0 0
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
O75197 LDL receptor related protein 5 283 0.485 0.846 0.51 0.100 None 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
O75369 filamin B 374 0.458 0.923 6.1E-10 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA
P00813 adenosine deaminase Enzyme 379 0.440 0.885 2.9E-12 0.100 None 0 0
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
P01137 transforming growth factor beta 1 Signaling 1558 0.287 0.962 3.7E-02 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: 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: 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: 2735
Gene Symbol: GLI1
GLI1
P08151 GLI family zinc finger 1 369 0.431 0.846 7.7E-14 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: 2263
Gene Symbol: FGFR2
FGFR2
P21802 fibroblast growth factor receptor 2 Kinase 731 0.380 0.808 1.00 0.100 None 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
P22607 fibroblast growth factor receptor 3 Kinase 654 0.391 0.846 1.6E-05 0.100 None 0 0
Entrez Id: 6916
Gene Symbol: TBXAS1
TBXAS1
P24557 thromboxane A synthase 1 77 0.619 0.615 1.4E-20 0.100 None 0 0
Entrez Id: 5982
Gene Symbol: RFC2
RFC2
P35250 replication factor C subunit 2 Enzyme 206 0.520 0.769 2.2E-06 0.100 None 0 0
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
P43235 cathepsin K Enzyme 221 0.497 0.808 3.1E-05 0.100 None 0 0
Entrez Id: 1186
Gene Symbol: CLCN7
CLCN7
P51798 chloride voltage-gated channel 7 Ion channel 135 0.590 0.731 0.27 0.100 None 0 0
Entrez Id: 3984
Gene Symbol: LIMK1
LIMK1
P53667 LIM domain kinase 1 Kinase 271 0.488 0.731 1.00 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 206 0.551 0.769 8.1E-04 0.100 None 0 0
Entrez Id: 7415
Gene Symbol: VCP
VCP
P55072 valosin containing protein 376 0.469 0.923 1.00 0.100 None 0 0
Entrez Id: 2121
Gene Symbol: EVC
EVC
P57679 EvC ciliary complex subunit 1 104 0.587 0.577 3.5E-25 0.100 None 0 0
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I
P78347 general transcription factor IIi 249 0.500 0.808 1.00 0.100 None 0 0
Entrez Id: 5251
Gene Symbol: PHEX
PHEX
P78562 phosphate regulating endopeptidase homolog X-linked Enzyme 142 0.548 0.808 1.00 0.100 None 0 0