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
PTCH1 Q13635 patched 1 1.00 0.398 0.885
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
COL5A1 P20908 collagen type V alpha 1 chain 1.00 0.536 0.769
TAF1 P21675 TATA-box binding protein associated factor 1 Kinase 1.00 0.581 0.808
COL5A2 P05997 collagen type V alpha 2 chain 1.00 0.568 0.731
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
STRN4 Q9NRL3 striatin 4 0.99 0.792 0.346
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
TGFBR1 P36897 transforming growth factor beta receptor 1 Kinase 0.85 0.451 0.885
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731