Disease: Microcephaly (physical finding)
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BRF1 Q92994 BRF1 RNA polymerase III transcription initiation factor subunit Transcription factor 1.0E-04 0.700 0.462
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
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
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
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
FLG-AS1 FLG antisense RNA 1 0.700 0.538
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
MYCN P04198 MYCN proto-oncogene, bHLH transcription factor Transcription factor 0.89 0.454 0.808