Disease: Overgrowth
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
EZH2 Q15910 enhancer of zeste 2 polycomb repressive complex 2 subunit Epigenetic regulator 1.00 0.376 0.885
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
PTCH1 Q13635 patched 1 1.00 0.398 0.885
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
SETD2 Q9BYW2 SET domain containing 2, histone lysine methyltransferase Epigenetic regulator 1.00 0.424 0.846
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
PAFAH1B1 P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 1.00 0.504 0.769
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
KCNH2 Q12809 potassium voltage-gated channel subfamily H member 2 Ion channel 1.00 0.522 0.731
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654