Disease: Microcephaly (physical finding)
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 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
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
PRR12 Q9ULL5 proline rich 12 1.00 0.716 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
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
AGTPBP1 Q9UPW5 ATP/GTP binding protein 1 Enzyme 0.42 0.650 0.538