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
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
KCNMA1 Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 1.00 0.518 0.846
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
KCNMA1-AS1 KCNMA1 antisense RNA 1 0.705 0.654
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
HEXA P06865 hexosaminidase subunit alpha Enzyme 1.3E-11 0.633 0.615
GALC P54803 galactosylceramidase 5.2E-15 0.604 0.615
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385
GNAO1 P09471 G protein subunit alpha o1 Enzyme modulator 0.99 0.523 0.808
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
KCNC1 P48547 potassium voltage-gated channel subfamily C member 1 Ion channel 0.99 0.711 0.154
SNHG14 small nucleolar RNA host gene 14 0.656 0.577
UBE3A Q05086 ubiquitin protein ligase E3A 1.00 0.561 0.692