Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AEBP1 Q8IUX7 AE binding protein 1 7.3E-11 0.631 0.654
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL5A1 P20908 collagen type V alpha 1 chain 1.00 0.536 0.769
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
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
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
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
PYROXD1 Q8WU10 pyridine nucleotide-disulphide oxidoreductase domain 1 Enzyme 6.3E-09 0.769 0.269
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731