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