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 0.100 None 1.000 4 13 2001 2006
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 4 2006 2006
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		P37173 transforming growth factor beta receptor 2 Kinase 18 0.413 0.846 0.13 0.100 None 1.000 1 1 2017 2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 85 0.292 0.923 1.00 0.100 None 1.000 1 1 2019 2019
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1 		Q8N653 leucine zipper like transcription regulator 1 38 0.547 0.808 1.0E-92 0.100 None 1.000 1 1 2018 2018
Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B 		Q96K49 transmembrane protein 87B 10 0.861 0.115 3.7E-13 0.100 None 1.000 1 1 2016 2016
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: 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: 8925
Gene Symbol: HERC1
HERC1 		Q15751 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 Enzyme modulator 5 0.674 0.500 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 39 0.477 0.808 1.00 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: 6016
Gene Symbol: RIT1
RIT1 		Q92963 Ras like without CAAX 1 Enzyme modulator 44 0.527 0.808 0.13 0.100 None 0 1
Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6 		Q9UHW9 solute carrier family 12 member 6 Transporter 6 0.603 0.500 1.1E-02 0.100 None 0 1
Entrez Id: 5979
Gene Symbol: RET
RET 		P07949 ret proto-oncogene Kinase 36 0.392 0.885 1.00 0.100 None 0 1
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 45 0.418 0.885 0.85 0.100 None 0 1
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C 		Q8NEZ4 lysine methyltransferase 2C 9 0.558 0.692 1.00 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 93 0.503 0.846 1.00 0.100 None 0 1
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 38 0.593 0.654 1.00 0.100 None 0 1
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 54 0.505 0.769 1.00 0.100 None 0 2
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: 6663
Gene Symbol: SOX10
SOX10 		P56693 SRY-box transcription factor 10 19 0.461 0.808 0.99 0.100 None 0 1
Entrez Id: 90381
Gene Symbol: TICRR
TICRR 		Q7Z2Z1 TOPBP1 interacting checkpoint and replication regulator 14 0.769 0.423 7.2E-14 0.100 None 0 1
Entrez Id: 8726
Gene Symbol: EED
EED 		O75530 embryonic ectoderm development 18 0.588 0.615 1.00 0.100 None 0 1
Entrez Id: 8239
Gene Symbol: USP9X
USP9X 		Q93008 ubiquitin specific peptidase 9 X-linked 12 0.502 0.846 1.00 0.100 None 0 1
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		Q86YC2 partner and localizer of BRCA2 48 0.485 0.769 3.0E-19 0.100 None 0 1