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: 673
Gene Symbol: BRAF
BRAF
P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 125 0.319 0.846 1.00 0.100 None 1.000 2 1 2006 2006
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
Q14004 cyclin dependent kinase 13 Kinase 100 0.606 0.692 0.91 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
P78357 contactin associated protein 1 65 0.554 0.577 3.4E-05 0.100 None 1.000 1 1 2017 2017
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
P33897 ATP binding cassette subfamily D member 1 Transporter 37 0.563 0.731 1.00 0.100 None 1.000 1 1 1998 1998
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.100 None 0 2
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: 6197
Gene Symbol: RPS6KA3
RPS6KA3
P51812 ribosomal protein S6 kinase A3 Kinase 45 0.491 0.846 1.00 0.100 None 0 1
Entrez Id: 100529211
Gene Symbol: TMEM256-PLSCR3
TMEM256-PLSCR3
TMEM256-PLSCR3 readthrough (NMD candidate) 10 0.861 0.154 5.9E-03 0.100 None 0 1
Entrez Id: 867
Gene Symbol: CBL
CBL
P22681 Cbl proto-oncogene Enzyme 19 0.527 0.769 6.1E-04 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
Q13635 patched 1 116 0.398 0.885 1.00 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
Q14938 nuclear factor I X Nucleic acid binding 23 0.547 0.769 1.00 0.100 None 0 1
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
P84243 H3.3 histone A 68 0.559 0.692 0.12 0.100 None 0 1
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
Q8WXX7 activator of transcription and developmental regulator AUTS2 36 0.569 0.846 1.00 0.100 None 0 1
Entrez Id: 254863
Gene Symbol: TMEM256
TMEM256
Q8N2U0 transmembrane protein 256 Enzyme 10 0.861 0.154 6.1E-04 0.100 None 0 1
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292
O60281 zinc finger protein 292 Enzyme 26 0.695 0.423 1.00 0.100 None 0 1
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
O00571 DEAD-box helicase 3 X-linked 54 0.537 0.769 1.00 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 78 0.444 0.846 1.00 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 81 0.534 0.769 1.00 0.100 None 0 2
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 59 0.584 0.577 1.00 0.100 None 0 1