Disease: Orbital separation excessive
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SMCHD1 A6NHR9 structural maintenance of chromosomes flexible hinge domain containing 1 1.00 0.631 0.615
SPECC1L Q69YQ0 sperm antigen with calponin homology and coiled-coil domains 1 like 0.86 0.593 0.654
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
SMG9 Q9H0W8 SMG9 nonsense mediated mRNA decay factor 3.5E-13 0.729 0.346
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
KMT2C Q8NEZ4 lysine methyltransferase 2C 1.00 0.558 0.692
TBL1XR1 Q9BZK7 TBL1X receptor 1 1.00 0.534 0.808
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
ESCO2 Q56NI9 establishment of sister chromatid cohesion N-acetyltransferase 2 3.2E-07 0.581 0.615
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
GTF2H5 Q6ZYL4 general transcription factor IIH subunit 5 4.5E-02 0.556 0.769
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
TBCD Q9BTW9 tubulin folding cofactor D Cellular structure 1.0E-07 0.599 0.615
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
ERCC3 P19447 ERCC excision repair 3, TFIIH core complex helicase subunit Enzyme 3.4E-11 0.504 0.846
EXT2 Q93063 exostosin glycosyltransferase 2 Enzyme 1.3E-09 0.576 0.654
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769