Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
G6PD P11413 glucose-6-phosphate dehydrogenase Enzyme 0.97 0.424 0.846
SETD2 Q9BYW2 SET domain containing 2, histone lysine methyltransferase Epigenetic regulator 1.00 0.424 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
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
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
FLT4 P35916 fms related receptor tyrosine kinase 4 Kinase 1.00 0.457 0.808
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
HNF4A P41235 hepatocyte nuclear factor 4 alpha Nuclear receptor 0.15 0.461 0.808