Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
NDP Q00604 norrin cystine knot growth factor NDP 0.65 0.566 0.692
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
MGAT2 Q10469 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase Enzyme 3.4E-02 0.650 0.577
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385
FAM98C Q17RN3 family with sequence similarity 98 member C 1.1E-07 0.931 0.115
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
EARS2 Q5JPH6 glutamyl-tRNA synthetase 2, mitochondrial Enzyme 1.1E-08 0.666 0.538
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
FIGNL1 Q6PIW4 fidgetin like 1 Cellular structure 1.2E-04 0.805 0.385
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
MED25 Q71SY5 mediator complex subunit 25 Transcription factor 8.4E-07 0.582 0.654
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
THOC6 Q86W42 THO complex 6 4.8E-04 0.705 0.577
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
FAM20C Q8IXL6 FAM20C golgi associated secretory pathway kinase 0.31 0.578 0.731