Disease: Microcephaly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ANK1 P16157 ankyrin 1 1.00 0.540 0.885
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
NTRK2 Q16620 neurotrophic receptor tyrosine kinase 2 Kinase 1.00 0.479 0.808
POLA1 P09884 DNA polymerase alpha 1, catalytic subunit 1.00 0.653 0.731
PTCH1 Q13635 patched 1 1.00 0.398 0.885
SCN3A Q9NY46 sodium voltage-gated channel alpha subunit 3 Ion channel 1.00 0.617 0.538
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
SMARCA4 P51532 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Epigenetic regulator 1.00 0.450 0.885
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
KAT6A Q92794 lysine acetyltransferase 6A Enzyme 1.00 0.560 0.769
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
TRRAP Q9Y4A5 transformation/transcription domain associated protein 1.00 0.572 0.692
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462