Disease: Micrognathism
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
ACTG2 P63267 actin gamma 2, smooth muscle Cellular structure 7.1E-02 0.505 0.808
ADAMTS2 O95450 ADAM metallopeptidase with thrombospondin type 1 motif 2 Enzyme 0.97 0.579 0.808
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BANF1 O75531 BAF nuclear assembly factor 1 0.65 0.599 0.692
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 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
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
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
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
EED O75530 embryonic ectoderm development 1.00 0.588 0.615
ELN P15502 elastin 2.1E-14 0.415 0.885
EMG1 Q92979 EMG1 N1-specific pseudouridine methyltransferase Nucleic acid binding 1.5E-05 0.686 0.615
EPG5 Q9HCE0 ectopic P-granules autophagy protein 5 homolog 1.4E-13 0.623 0.769
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