Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
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
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
GALC P54803 galactosylceramidase 5.2E-15 0.604 0.615
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
MTFMT Q96DP5 mitochondrial methionyl-tRNA formyltransferase Enzyme 1.5E-07 0.595 0.808
CACNA1F O60840 calcium voltage-gated channel subunit alpha1 F Ion channel 1.2E-05 0.595 0.500
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
TSEN54 Q7Z6J9 tRNA splicing endonuclease subunit 54 1.8E-07 0.659 0.500