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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS
Q9NR45 N-acetylneuraminate synthase Enzyme 153 0.545 0.692 0.100 None 0 0
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: 64175
Gene Symbol: P3H1
P3H1
Q32P28 prolyl 3-hydroxylase 1 Extracellular structure 37 0.736 0.231 2.3E-20 0.100 None 0 0
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
P98160 heparan sulfate proteoglycan 2 Enzyme modulator 405 0.438 0.885 1.0E-19 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1
P20849 collagen type IX alpha 1 chain 116 0.566 0.731 3.1E-19 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
P45452 matrix metallopeptidase 13 Enzyme 328 0.452 0.923 7.9E-18 0.100 None 0 0
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 422 0.457 0.808 2.2E-16 0.100 None 0 1
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 0.100 None 0 0
Entrez Id: 4796
Gene Symbol: TONSL
TONSL
Q96HA7 tonsoku like, DNA repair protein 67 0.653 0.615 2.6E-13 0.100 None 0 0
Entrez Id: 84695
Gene Symbol: LOXL3
LOXL3
P58215 lysyl oxidase like 3 46 0.666 0.462 2.7E-13 0.100 None 0 0
Entrez Id: 54808
Gene Symbol: DYM
DYM
Q7RTS9 dymeclin 155 0.563 0.769 3.6E-13 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3
O60568 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 Enzyme 59 0.659 0.385 6.1E-13 0.100 None 0 0
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
Q15643 thyroid hormone receptor interactor 11 148 0.595 0.654 1.7E-12 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
O75874 isocitrate dehydrogenase (NADP(+)) 1 399 0.424 0.808 2.6E-12 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: 1299
Gene Symbol: COL9A3
COL9A3
Q14050 collagen type IX alpha 3 chain 125 0.569 0.769 3.3E-12 0.100 None 0 0
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24
Q6NUK1 solute carrier family 25 member 24 Transporter 141 0.575 0.731 3.4E-12 0.100 None 0 0
Entrez Id: 112752
Gene Symbol: IFT43
IFT43
Q96FT9 intraflagellar transport 43 84 0.617 0.577 1.8E-11 0.100 None 0 0
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2
O95340 3'-phosphoadenosine 5'-phosphosulfate synthase 2 Enzyme 37 0.682 0.462 2.0E-10 0.100 None 0 0
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
P34059 galactosamine (N-acetyl)-6-sulfatase Enzyme 138 0.560 0.808 3.0E-10 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: 2720
Gene Symbol: GLB1
GLB1
P16278 galactosidase beta 1 Enzyme 385 0.448 0.808 7.9E-10 0.100 None 0 0
Entrez Id: 3835
Gene Symbol: KIF22
KIF22
Q14807 kinesin family member 22 Cellular structure 150 0.552 0.654 9.2E-10 0.100 None 0 0