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: 5894
Gene Symbol: RAF1
RAF1 		P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 45 0.418 0.885 0.85 0.100 None 1.000 2 1 2007 2007
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: 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: 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 1 1 2008 2008
Entrez Id: 153241
Gene Symbol: CEP120
CEP120 		Q8N960 centrosomal protein 120 17 0.564 0.731 4.1E-15 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 3
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: 6833
Gene Symbol: ABCC8
ABCC8 		Q09428 ATP binding cassette subfamily C member 8 Transporter 32 0.474 0.846 8.0E-24 0.100 None 0 1
Entrez Id: 79053
Gene Symbol: ALG8
ALG8 		Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 19 0.659 0.577 1.2E-08 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
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 10 0.644 0.500 5.0E-17 0.100 None 0 2
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: 55636
Gene Symbol: CHD7
CHD7 		Q9P2D1 chromodomain helicase DNA binding protein 7 77 0.441 0.846 1.00 0.100 None 0 1
Entrez Id: 23299
Gene Symbol: BICD2
BICD2 		Q8TD16 BICD cargo adaptor 2 28 0.615 0.731 0.98 0.100 None 0 1
Entrez Id: 27241
Gene Symbol: BBS9
BBS9 		Q3SYG4 Bardet-Biedl syndrome 9 21 0.615 0.577 4.2E-17 0.100 None 0 1
Entrez Id: 342035
Gene Symbol: GLDN
GLDN 		Q6ZMI3 gliomedin 7 0.769 0.346 2.6E-13 0.100 None 0 1
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 46 0.485 0.769 4.5E-08 0.100 None 0 1
Entrez Id: 441151
Gene Symbol: TMEM151B
TMEM151B 		Q8IW70 transmembrane protein 151B 10 0.792 0.346 0.14 0.100 None 0 1
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		Q13496 myotubularin 1 Enzyme 16 0.573 0.731 1.00 0.100 None 0 1
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		Q04721 notch receptor 2 17 0.441 0.808 1.00 0.100 None 0 1
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 43 0.535 0.769 1.4E-17 0.100 None 0 1
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7 		Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 23 0.674 0.538 5.5E-15 0.100 None 0 2
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		Q9UJ55 MAGE family member L2 Cell adhesion 91 0.560 0.654 0.98 0.100 None 0 1
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2 		Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 26 0.647 0.462 1.00 0.100 None 0 1