Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
PTCH1 Q13635 patched 1 1.00 0.398 0.885
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692
CPT2 P23786 carnitine palmitoyltransferase 2 Enzyme 4.6E-10 0.542 0.769