Disease: Short neck
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
COL12A1 Q99715 collagen type XII alpha 1 chain Receptor 0.97 0.615 0.692
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692
COL6A3 P12111 collagen type VI alpha 3 chain Receptor 1.8E-20 0.563 0.769
DYM Q7RTS9 dymeclin 3.6E-13 0.563 0.769
EMD P50402 emerin 0.93 0.542 0.731
ERCC1 P07992 ERCC excision repair 1, endonuclease non-catalytic subunit Enzyme 1.6E-07 0.445 0.846
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
ERCC5 P28715 ERCC excision repair 5, endonuclease 2.7E-13 0.499 0.731
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
FBN2 P35556 fibrillin 2 Calcium-binding protein 1.00 0.505 0.808
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FHL1 Q13642 four and a half LIM domains 1 0.97 0.532 0.731
GLB1 P16278 galactosidase beta 1 Enzyme 7.9E-10 0.448 0.808
GNPTG Q9UJJ9 N-acetylglucosamine-1-phosphate transferase subunit gamma Enzyme 4.6E-09 0.705 0.423
GNS P15586 glucosamine (N-acetyl)-6-sulfatase Enzyme 5.6E-04 0.705 0.538
GUSB P08236 glucuronidase beta 4.0E-08 0.530 0.846
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885