Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.110 None 1.000 0 2 2002 2002
Entrez Id: 4763
Gene Symbol: NF1
NF1
P21359 neurofibromin 1 Enzyme modulator 47 0.440 0.885 0.90 0.110 None 1.000 0 11 2008 2008
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
P30049 ATP synthase F1 subunit delta Transporter 43 0.674 0.500 7.4E-02 0.100 None 1.000 1 1 2018 2018
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 76 0.460 0.808 1.00 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF
P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 125 0.319 0.846 1.00 0.100 None 0 1
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 62 0.485 0.808 1.00 0.100 None 0 1
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
Q06609 RAD51 recombinase 26 0.447 0.846 2.7E-02 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA
Q00577 purine rich element binding protein A Nucleic acid binding 47 0.644 0.500 0.94 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 76 0.595 0.769 1.00 0.100 None 0 4
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
P12109 collagen type VI alpha 1 chain Receptor 69 0.587 0.731 1.00 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 44 0.544 0.615 1.00 0.100 None 0 1
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
P01116 KRAS proto-oncogene, GTPase Enzyme modulator 66 0.320 0.923 7.9E-04 0.100 None 0 1
Entrez Id: 3815
Gene Symbol: KIT
KIT
P10721 KIT proto-oncogene, receptor tyrosine kinase Kinase 21 0.366 0.808 0.98 0.100 None 0 1
Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2
Q9BYZ6 Rho related BTB domain containing 2 Enzyme modulator 13 0.631 0.615 1.3E-02 0.100 None 0 1
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
Q12830 bromodomain PHD finger transcription factor 73 0.560 0.769 1.00 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 79 0.533 0.769 1.00 0.100 None 0 1
Entrez Id: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1
Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 21 0.780 0.346 1.4E-06 0.100 None 0 3
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
Q9C0F0 ASXL transcriptional regulator 3 77 0.590 0.577 1.00 0.100 None 0 1