Disease: Joint hyperflexibility
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
B3GALT6 Q96L58 beta-1,3-galactosyltransferase 6 2.3E-02 0.631 0.615
BCR P11274 BCR activator of RhoGEF and GTPase Enzyme modulator 0.99 0.431 0.885
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL9A2 Q14055 collagen type IX alpha 2 chain 1.0E-08 0.572 0.769
COMP P49747 cartilage oligomeric matrix protein 1.3E-09 0.503 0.808
CRKL P46109 CRK like proto-oncogene, adaptor protein 0.45 0.553 0.769
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGD1 P98174 FYVE, RhoGEF and PH domain containing 1 Enzyme modulator 1.00 0.573 0.731
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
FLNA P21333 filamin A 1.00 0.419 0.846
GDF5 P43026 growth differentiation factor 5 Signaling 0.67 0.511 0.692
HDAC4 P56524 histone deacetylase 4 Epigenetic regulator 1.00 0.484 0.885
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
LMNA P02545 lamin A/C 1.00 0.384 0.885
MAPK1 P28482 mitogen-activated protein kinase 1 Kinase 1.00 0.330 0.923
ORC1 Q13415 origin recognition complex subunit 1 Nucleic acid binding 1.7E-14 0.595 0.654
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
PIK3R1 P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 1.00 0.477 0.885
PTDSS1 P48651 phosphatidylserine synthase 1 Enzyme 0.15 0.610 0.615
RMRP RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731