Disease: Microcephaly (physical finding)
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
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
ALG8 Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 1.2E-08 0.659 0.577
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
VPS11 Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 1.9E-05 0.633 0.654
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
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
AGTPBP1 Q9UPW5 ATP/GTP binding protein 1 Enzyme 0.42 0.650 0.538
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 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
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385