Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACO2 Q99798 aconitase 2 Enzyme 0.21 0.619 0.654
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL4A5 P29400 collagen type IV alpha 5 chain 1.00 0.553 0.654
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DIPK1A Q5T7M9 divergent protein kinase domain 1A 0.58 0.743 0.423
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
KCTD7 Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 6.3E-04 0.650 0.423