Disease: Micrognathism
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
CEP57 Q86XR8 centrosomal protein 57 7.3E-02 0.615 0.615
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
CPLX1 O14810 complexin 1 0.82 0.576 0.654
CTBP1 Q13363 C-terminal binding protein 1 Transcription factor 0.98 0.559 0.692
DNAJC21 Q5F1R6 DnaJ heat shock protein family (Hsp40) member C21 2.1E-07 0.606 0.731
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EMG1 Q92979 EMG1 N1-specific pseudouridine methyltransferase Nucleic acid binding 1.5E-05 0.686 0.615
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885
FANCE Q9HB96 FA complementation group E 1.5E-06 0.553 0.808
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFRL1 Q8N441 fibroblast growth factor receptor like 1 Enzyme 1.2E-02 0.588 0.615
FLCN Q8NFG4 folliculin 0.79 0.537 0.885
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
H19 H19 imprinted maternally expressed transcript 0.494 0.923
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769