Disease: Joint laxity
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
ELN P15502 elastin 2.1E-14 0.415 0.885
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808
TGFBR1 P36897 transforming growth factor beta receptor 1 Kinase 0.85 0.451 0.885
SERPINF1 P36955 serpin family F member 1 Enzyme modulator 7.8E-08 0.460 0.846
PIK3R1 P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 1.00 0.477 0.885
LIMK1 P53667 LIM domain kinase 1 Kinase 1.00 0.488 0.731
DPYD Q12882 dihydropyrimidine dehydrogenase Enzyme 3.4E-22 0.493 0.846
PAX2 Q02962 paired box 2 0.67 0.495 0.731
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
RMRP RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
RFC2 P35250 replication factor C subunit 2 Enzyme 2.2E-06 0.520 0.769
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769
WDR35 Q9P2L0 WD repeat domain 35 1.0E-22 0.525 0.692
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731