Disease: Aplasia/Hypoplasia of the cerebellum
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BUB1 O43683 BUB1 mitotic checkpoint serine/threonine kinase Kinase 4.9E-09 0.528 0.731
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
BUB3 O43684 BUB3 mitotic checkpoint protein Nucleic acid binding 0.81 0.588 0.615
CEP57 Q86XR8 centrosomal protein 57 7.3E-02 0.615 0.615
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
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
NDP Q00604 norrin cystine knot growth factor NDP 0.65 0.566 0.692
SEMA3E O15041 semaphorin 3E Signaling 8.7E-09 0.515 0.769
TRIP13 Q15645 thyroid hormone receptor interactor 13 1.00 0.559 0.654
WDR73 Q6P4I2 WD repeat domain 73 2.8E-09 0.610 0.500