Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731
AEBP1 Q8IUX7 AE binding protein 1 7.3E-11 0.631 0.654
PYROXD1 Q8WU10 pyridine nucleotide-disulphide oxidoreductase domain 1 Enzyme 6.3E-09 0.769 0.269
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
FKBP14 Q9NWM8 FKBP prolyl isomerase 14 1.5E-06 0.650 0.654
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
TGFBR1 P36897 transforming growth factor beta receptor 1 Kinase 0.85 0.451 0.885
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
STRN4 Q9NRL3 striatin 4 0.99 0.792 0.346
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
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
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
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