Disease: Joint laxity
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ATP6V1E1 P36543 ATPase H+ transporting V1 subunit E1 Transporter 0.53 0.610 0.769
B3GAT3 O94766 beta-1,3-glucuronyltransferase 3 Enzyme 2.7E-08 0.621 0.538
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CHST3 Q7LGC8 carbohydrate sulfotransferase 3 7.2E-03 0.517 0.846
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808
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
DCHS1 Q96JQ0 dachsous cadherin-related 1 1.00 0.592 0.731
ELN P15502 elastin 2.1E-14 0.415 0.885
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FLNA P21333 filamin A 1.00 0.419 0.846
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
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
LIMK1 P53667 LIM domain kinase 1 Kinase 1.00 0.488 0.731
MAP3K7 O43318 mitogen-activated protein kinase kinase kinase 7 Kinase 1.00 0.477 0.808
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731
PRDM5 Q9NQX1 PR/SET domain 5 3.6E-10 0.621 0.654
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
RFC2 P35250 replication factor C subunit 2 Enzyme 2.2E-06 0.520 0.769
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846