Disease: Dysmorphic features
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FLG-AS1 FLG antisense RNA 1 0.700 0.538
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
SNHG14 small nucleolar RNA host gene 14 0.656 0.577
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
NGLY1 Q96IV0 N-glycanase 1 Enzyme 1.5E-13 0.601 0.654
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
SGSH P51688 N-sulfoglucosamine sulfohydrolase Enzyme 1.0E-04 0.638 0.692
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
MCOLN1 Q9GZU1 mucolipin 1 Ion channel 5.8E-04 0.601 0.654
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885