Disease: Dysmorphic facies
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 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
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
FLG-AS1 FLG antisense RNA 1 0.700 0.538
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
MTFMT Q96DP5 mitochondrial methionyl-tRNA formyltransferase Enzyme 1.5E-07 0.595 0.808
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
POLR3GL Q9BT43 RNA polymerase III subunit G like Enzyme 2.3E-05 0.839 0.231
PRMT7 Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 5.5E-15 0.674 0.538
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
TMEM87B Q96K49 transmembrane protein 87B 3.7E-13 0.861 0.115
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769