Disease: Joint laxity
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FKBP14 Q9NWM8 FKBP prolyl isomerase 14 1.5E-06 0.650 0.654
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
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
GTPBP2 Q9BX10 GTP binding protein 2 Enzyme 0.32 0.736 0.423
IFT122 Q9HBG6 intraflagellar transport 122 2.4E-24 0.560 0.846
IFT43 Q96FT9 intraflagellar transport 43 1.8E-11 0.617 0.577
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
KCNH1 O95259 potassium voltage-gated channel subfamily H member 1 Ion channel 0.55 0.542 0.731
LIMK1 P53667 LIM domain kinase 1 Kinase 1.00 0.488 0.731
NONO Q15233 non-POU domain containing octamer binding Nucleic acid binding 0.99 0.554 0.731
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
PAX2 Q02962 paired box 2 0.67 0.495 0.731
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PIK3R1 P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 1.00 0.477 0.885
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769
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
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769