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: 6659
Gene Symbol: SOX4
SOX4 		Q06945 SRY-box transcription factor 4 Transcription factor 11 0.489 0.808 0.93 0.400 strong 1.000 1 1 2019 2019
Entrez Id: 25
Gene Symbol: ABL1
ABL1 		P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 30 0.432 0.923 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A 		Q96ST3 SIN3 transcription regulator family member A Enzyme 11 0.551 0.692 1.00 0.100 None 1.000 1 1 2019 2019
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1 		O75147 obscurin like cytoskeletal adaptor 1 16 0.686 0.308 1.0E-25 0.100 None 1.000 1 1 2019 2019
Entrez Id: 5898
Gene Symbol: RALA
RALA 		P11233 RAS like proto-oncogene A Enzyme modulator 6 0.656 0.577 0.97 0.100 None 1.000 1 1 2018 2018
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		Q12830 bromodomain PHD finger transcription factor 73 0.560 0.769 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A 		Q92794 lysine acetyltransferase 6A Enzyme 18 0.560 0.769 1.00 0.100 None 1.000 1 1 2015 2015
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: 253738
Gene Symbol: EBF3
EBF3 		Q9H4W6 EBF transcription factor 3 58 0.595 0.731 1.00 0.100 None 1.000 1 1 2017 2017
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: 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: 5781
Gene Symbol: PTPN11
PTPN11 		Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 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: 7021
Gene Symbol: TFAP2B
TFAP2B 		Q92481 transcription factor AP-2 beta Transcription factor 8 0.570 0.769 0.99 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 1
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		Q9UHF7 transcriptional repressor GATA binding 1 71 0.537 0.769 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
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: 85478
Gene Symbol: CCDC65
CCDC65 		Q8IXS2 coiled-coil domain containing 65 6 0.674 0.500 5.8E-11 0.100 None 0 1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		Q13635 patched 1 116 0.398 0.885 1.00 0.100 None 0 1
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		Q9BY41 histone deacetylase 8 Epigenetic regulator 35 0.511 0.885 0.98 0.100 None 0 1
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6 		Q92581 solute carrier family 9 member A6 Transporter 21 0.516 0.846 1.00 0.100 None 0 1
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP 		Q6ZRS2 Snf2 related CREBBP activator protein 57 0.610 0.731 1.00 0.100 None 0 1
Entrez Id: 112939
Gene Symbol: NACC1
NACC1 		Q96RE7 nucleus accumbens associated 1 34 0.610 0.577 1.00 0.100 None 0 1