Disease: Joint laxity
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
ATP6V1E1 P36543 ATPase H+ transporting V1 subunit E1 Transporter 0.53 0.610 0.769
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
B3GAT3 O94766 beta-1,3-glucuronyltransferase 3 Enzyme 2.7E-08 0.621 0.538
B4GALT7 Q9UBV7 beta-1,4-galactosyltransferase 7 1.1E-04 0.628 0.654
CHST3 Q7LGC8 carbohydrate sulfotransferase 3 7.2E-03 0.517 0.846
COL5A1 P20908 collagen type V alpha 1 chain 1.00 0.536 0.769
EFEMP2 O95967 EGF containing fibulin extracellular matrix protein 2 Calcium-binding protein 8.2E-03 0.559 0.692
ELN P15502 elastin 2.1E-14 0.415 0.885
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
IFT43 Q96FT9 intraflagellar transport 43 1.8E-11 0.617 0.577
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
LTBP4 Q8N2S1 latent transforming growth factor beta binding protein 4 Calcium-binding protein 0.50 0.604 0.654
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
MLXIPL Q9NP71 MLX interacting protein like 4.8E-02 0.554 0.731
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
PYCR1 P32322 pyrroline-5-carboxylate reductase 1 2.0E-04 0.570 0.654
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
SLC2A10 O95528 solute carrier family 2 member 10 Transporter 1.6E-08 0.550 0.615
WDR19 Q8NEZ3 WD repeat domain 19 4.6E-11 0.554 0.769
WDR35 Q9P2L0 WD repeat domain 35 1.0E-22 0.525 0.692