Disease: Micrognathism
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
ATAD3A Q9NVI7 ATPase family AAA domain containing 3A Enzyme 4.1E-09 0.628 0.692
HYLS1 Q96M11 HYLS1 centriolar and ciliogenesis associated 2.3E-09 0.572 0.692
OCRL Q01968 OCRL inositol polyphosphate-5-phosphatase Enzyme 1.00 0.553 0.731
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
MAFB Q9Y5Q3 MAF bZIP transcription factor B Transcription factor 0.90 0.565 0.731
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
LEMD3 Q9Y2U8 LEM domain containing 3 1.00 0.582 0.731
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
XRCC4 Q13426 X-ray repair cross complementing 4 8.3E-07 0.528 0.769
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
PSMD12 O00232 proteasome 26S subunit, non-ATPase 12 Enzyme modulator 1.00 0.578 0.808
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808