Disease: Micrognathism
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
COL9A1 P20849 collagen type IX alpha 1 chain 3.1E-19 0.566 0.731
COL9A2 Q14055 collagen type IX alpha 2 chain 1.0E-08 0.572 0.769
COL9A3 Q14050 collagen type IX alpha 3 chain 3.3E-12 0.569 0.769
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
COL10A1 Q03692 collagen type X alpha 1 chain Extracellular structure 3.0E-05 0.619 0.500
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
DPYD Q12882 dihydropyrimidine dehydrogenase Enzyme 3.4E-22 0.493 0.846
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846
DNAJC21 Q5F1R6 DnaJ heat shock protein family (Hsp40) member C21 2.1E-07 0.606 0.731
ELN P15502 elastin 2.1E-14 0.415 0.885
EED O75530 embryonic ectoderm development 1.00 0.588 0.615
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
FANCI Q9NVI1 FA complementation group I 8.9E-37 0.543 0.731
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885