Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI v | DPI v |
---|---|---|---|---|---|---|
LMNA | P02545 | lamin A/C | 1.00 | 0.384 | 0.885 | |
FGFR3 | P22607 | fibroblast growth factor receptor 3 | Kinase | 1.6E-05 | 0.391 | 0.846 |
GNAS | O95467 P63092 P84996 Q5JWF2 | GNAS complex locus | Enzyme modulator | 0.68 | 0.420 | 0.885 |
GBA | P04062 | glucosylceramidase beta | 1.4E-06 | 0.500 | 0.808 | |
PEX1 | O43933 | peroxisomal biogenesis factor 1 | 1.1E-14 | 0.538 | 0.769 | |
ZMPSTE24 | O75844 | zinc metallopeptidase STE24 | Enzyme | 8.9E-16 | 0.517 | 0.731 |
RYR1 | P21817 | ryanodine receptor 1 | Ion channel | 1.6E-29 | 0.489 | 0.808 |
DHCR7 | Q9UBM7 | 7-dehydrocholesterol reductase | Enzyme | 3.9E-13 | 0.500 | 0.846 |
TRPV4 | Q9HBA0 | transient receptor potential cation channel subfamily V member 4 | Ion channel | 2.2E-16 | 0.457 | 0.808 |
MYH7 | P12883 | myosin heavy chain 7 | 4.2E-16 | 0.516 | 0.692 | |
RET | P07949 | ret proto-oncogene | Kinase | 1.00 | 0.392 | 0.885 |
CACNA1A | O00555 | calcium voltage-gated channel subunit alpha1 A | Ion channel | 1.00 | 0.489 | 0.769 |
TPM2 | P07951 | tropomyosin 2 | Cellular structure | 2.4E-04 | 0.530 | 0.654 |
MAGEL2 | Q9UJ55 | MAGE family member L2 | Cell adhesion | 0.98 | 0.560 | 0.654 |
PHGDH | O43175 | phosphoglycerate dehydrogenase | Enzyme | 1.3E-04 | 0.484 | 0.885 |
ACTA1 | P68133 | actin alpha 1, skeletal muscle | Cellular structure | 1.1E-06 | 0.540 | 0.769 |
RAI1 | Q7Z5J4 | retinoic acid induced 1 | Transcription factor | 1.00 | 0.545 | 0.731 |
STXBP1 | P61764 | syntaxin binding protein 1 | Transporter | 1.00 | 0.532 | 0.692 |
SCN8A | Q9UQD0 | sodium voltage-gated channel alpha subunit 8 | Ion channel | 1.00 | 0.510 | 0.731 |
WWOX | Q9NZC7 | WW domain containing oxidoreductase | Enzyme | 1.2E-15 | 0.453 | 0.808 |
PMM2 | O15305 | phosphomannomutase 2 | Enzyme | 1.4E-17 | 0.535 | 0.769 |
MYH3 | P11055 | myosin heavy chain 3 | 6.7E-21 | 0.563 | 0.654 | |
GMPPB | Q9Y5P6 | GDP-mannose pyrophosphorylase B | 8.4E-07 | 0.578 | 0.538 | |
B3GLCT | Q6Y288 | beta 3-glucosyltransferase | Enzyme | 7.1E-17 | 0.554 | 0.731 |
ADNP | Q9H2P0 | activity dependent neuroprotector homeobox | 1.00 | 0.561 | 0.808 |