Disease: Joint laxity
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADAMTS2 O95450 ADAM metallopeptidase with thrombospondin type 1 motif 2 Enzyme 0.97 0.579 0.808
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
ARF1 P84077 ADP ribosylation factor 1 0.90 0.626 0.615
ARFGEF2 Q9Y6D5 ADP ribosylation factor guanine nucleotide exchange factor 2 1.00 0.659 0.462
B4GALT7 Q9UBV7 beta-1,4-galactosyltransferase 7 1.1E-04 0.628 0.654
C1R P00736 complement C1r Enzyme 0.78 0.638 0.654
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
COL5A1 P20908 collagen type V alpha 1 chain 1.00 0.536 0.769
COL5A2 P05997 collagen type V alpha 2 chain 1.00 0.568 0.731
ERMARD Q5T6L9 ER membrane associated RNA degradation 5.8E-16 0.647 0.538
FLNA P21333 filamin A 1.00 0.419 0.846
MAP1B P46821 microtubule associated protein 1B Cellular structure 1.00 0.628 0.500
NCOR1 O75376 nuclear receptor corepressor 1 Transcription factor 1.00 0.597 0.731
NEDD4L Q96PU5 NEDD4 like E3 ubiquitin protein ligase Enzyme 1.00 0.573 0.731
ORC1 Q13415 origin recognition complex subunit 1 Nucleic acid binding 1.7E-14 0.595 0.654
PIK3R1 P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 1.00 0.477 0.885
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769
PORCN Q9H237 porcupine O-acyltransferase Enzyme 1.00 0.545 0.692
PPP1CB P62140 protein phosphatase 1 catalytic subunit beta Enzyme 1.00 0.601 0.577
PYCR1 P32322 pyrroline-5-carboxylate reductase 1 2.0E-04 0.570 0.654
SLC2A10 O95528 solute carrier family 2 member 10 Transporter 1.6E-08 0.550 0.615
SLC39A13 Q96H72 solute carrier family 39 member 13 Transporter 2.5E-03 0.666 0.538
TGFBR1 P36897 transforming growth factor beta receptor 1 Kinase 0.85 0.451 0.885