Disease: Overgrowth
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALDH7A1 P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 1.4E-22 0.551 0.769
CHD8 Q9HCK8 chromodomain helicase DNA binding protein 8 1.00 0.656 0.577
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
FLG-AS1 FLG antisense RNA 1 0.700 0.538
GABRA1 P14867 gamma-aminobutyric acid type A receptor subunit alpha1 Ion channel 0.91 0.563 0.577
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
HEXA P06865 hexosaminidase subunit alpha Enzyme 1.3E-11 0.633 0.615
HNRNPU Q00839 heterogeneous nuclear ribonucleoprotein U 1.00 0.575 0.654
KCNH1 O95259 potassium voltage-gated channel subfamily H member 1 Ion channel 0.55 0.542 0.731
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
PAFAH1B1 P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 1.00 0.504 0.769
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423