Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
ROGDI Q9GZN7 rogdi atypical leucine zipper 2.6E-09 0.663 0.462
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
SPAST Q9UBP0 spastin Cellular structure 1.00 0.579 0.577
KCTD7 Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 6.3E-04 0.650 0.423
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808
FA2H Q7L5A8 fatty acid 2-hydroxylase Enzyme 0.15 0.573 0.654
RARS2 Q5T160 arginyl-tRNA synthetase 2, mitochondrial 7.7E-14 0.663 0.462
EMD P50402 emerin 0.93 0.542 0.731