Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
ROGDI Q9GZN7 rogdi atypical leucine zipper 2.6E-09 0.663 0.462
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
KCTD7 Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 6.3E-04 0.650 0.423
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
EED O75530 embryonic ectoderm development 1.00 0.588 0.615
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
UTP23 Q9BRU9 UTP23 small subunit processome component 8.6E-02 0.711 0.385
THOC6 Q86W42 THO complex 6 4.8E-04 0.705 0.577