Disease: Microcephaly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CRPPA A4D126 CDP-L-ribitol pyrophosphorylase A 2.5E-04 0.566 0.654
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
FANCG O15287 FA complementation group G 2.5E-14 0.556 0.769
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769
RAD51C O43502 RAD51 paralog C 6.2E-14 0.533 0.692
B4GAT1 O43505 beta-1,4-glucuronyltransferase 1 6.9E-03 0.590 0.538
XRCC2 O43543 X-ray repair cross complementing 2 4.0E-07 0.512 0.731
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
FKTN O75072 fukutin 8.7E-07 0.511 0.692
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
RNASEH2A O75792 ribonuclease H2 subunit A Enzyme 4.2E-03 0.592 0.692
PAK3 O75914 p21 (RAC1) activated kinase 3 Kinase 0.99 0.569 0.731
ZIC2 O95409 Zic family member 2 Transcription factor 0.97 0.556 0.769
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
WDPCP O95876 WD repeat containing planar cell polarity effector 1.1E-10 0.576 0.769
PDGFB P01127 platelet derived growth factor subunit B Signaling 0.77 0.488 0.846
EGF P01133 epidermal growth factor 8.5E-17 0.357 0.923
TNF P01375 tumor necrosis factor Signaling 0.80 0.231 0.962
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808