Disease: Microcephaly (physical finding)
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALG1 Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 3.6E-19 0.610 0.808
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
CENPT Q96BT3 centromere protein T 5.8E-06 0.821 0.231
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CLASP1 Q7Z460 cytoplasmic linker associated protein 1 Cellular structure 1.00 0.751 0.500
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
DIAPH1 O60610 diaphanous related formin 1 0.92 0.623 0.654
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
ISCA1 Q9BUE6 iron-sulfur cluster assembly 1 0.17 0.792 0.231
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808