Disease: Microcephaly (physical finding)
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
AGTPBP1 Q9UPW5 ATP/GTP binding protein 1 Enzyme 0.42 0.650 0.538
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
ALG8 Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 1.2E-08 0.659 0.577
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
VPS11 Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 1.9E-05 0.633 0.654
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769