Disease: Microcephaly (physical finding)
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALG8 Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 1.2E-08 0.659 0.577
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
AGTPBP1 Q9UPW5 ATP/GTP binding protein 1 Enzyme 0.42 0.650 0.538
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769