Disease: Microcephaly (physical finding)
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615