Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
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
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
KCTD7 Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 6.3E-04 0.650 0.423
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731