Disease: Joint laxity
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ELN P15502 elastin 2.1E-14 0.415 0.885
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577
FBLN5 Q9UBX5 fibulin 5 Calcium-binding protein 1.00 0.546 0.692
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FLNA P21333 filamin A 1.00 0.419 0.846
FLNB O75369 filamin B 6.1E-10 0.458 0.923
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769
IFT122 Q9HBG6 intraflagellar transport 122 2.4E-24 0.560 0.846
IFT43 Q96FT9 intraflagellar transport 43 1.8E-11 0.617 0.577
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
KIF22 Q14807 kinesin family member 22 Cellular structure 9.2E-10 0.552 0.654
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
LIMK1 P53667 LIM domain kinase 1 Kinase 1.00 0.488 0.731
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808
NOTCH3 Q9UM47 notch receptor 3 0.41 0.435 0.808
NPR2 P20594 natriuretic peptide receptor 2 Kinase 4.2E-05 0.573 0.615
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
OCRL Q01968 OCRL inositol polyphosphate-5-phosphatase Enzyme 1.00 0.553 0.731
ORC1 Q13415 origin recognition complex subunit 1 Nucleic acid binding 1.7E-14 0.595 0.654
ORC4 O43929 origin recognition complex subunit 4 Nucleic acid binding 7.6E-13 0.612 0.654
PAX2 Q02962 paired box 2 0.67 0.495 0.731
PHF6 Q8IWS0 PHD finger protein 6 Nucleic acid binding 1.00 0.581 0.692
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923