Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL5A2 P05997 collagen type V alpha 2 chain 1.00 0.568 0.731
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
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
TGFBR1 P36897 transforming growth factor beta receptor 1 Kinase 0.85 0.451 0.885
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
PTCH1 Q13635 patched 1 1.00 0.398 0.885
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
AEBP1 Q8IUX7 AE binding protein 1 7.3E-11 0.631 0.654
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
PYROXD1 Q8WU10 pyridine nucleotide-disulphide oxidoreductase domain 1 Enzyme 6.3E-09 0.769 0.269
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731