Disease: Joint laxity
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
ANTXR1 Q9H6X2 ANTXR cell adhesion molecule 1 Receptor 0.99 0.584 0.731
ATN1 P54259 atrophin 1 1.00 0.409 0.885
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769
CDC45 O75419 cell division cycle 45 Nucleic acid binding 4.6E-05 0.588 0.692
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
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
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
ELN P15502 elastin 2.1E-14 0.415 0.885
ERMARD Q5T6L9 ER membrane associated RNA degradation 5.8E-16 0.647 0.538
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
GNE Q9Y223 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Enzyme 2.5E-16 0.610 0.692
IFT122 Q9HBG6 intraflagellar transport 122 2.4E-24 0.560 0.846
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
MAP3K7 O43318 mitogen-activated protein kinase kinase kinase 7 Kinase 1.00 0.477 0.808
NONO Q15233 non-POU domain containing octamer binding Nucleic acid binding 0.99 0.554 0.731
NOTCH3 Q9UM47 notch receptor 3 0.41 0.435 0.808
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
ORC1 Q13415 origin recognition complex subunit 1 Nucleic acid binding 1.7E-14 0.595 0.654
ORC4 O43929 origin recognition complex subunit 4 Nucleic acid binding 7.6E-13 0.612 0.654
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923