Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
DMD P11532 dystrophin 1.00 0.423 0.923
QRICH1 Q2TAL8 glutamine rich 1 Enzyme modulator 1.00 0.716 0.423
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692
ZDHHC24 Q6UX98 zinc finger DHHC-type containing 24 4.2E-04 0.722 0.462
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
DES P17661 desmin 8.8E-03 0.460 0.846
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
CYP27A1 Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 5.3E-19 0.538 0.731
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
FA2H Q7L5A8 fatty acid 2-hydroxylase Enzyme 0.15 0.573 0.654
EARS2 Q5JPH6 glutamyl-tRNA synthetase 2, mitochondrial Enzyme 1.1E-08 0.666 0.538