Disease: Microcephaly (physical finding)
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
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
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615