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: 3640
Gene Symbol: INSL3
INSL3 		P51460 insulin like 3 1 0.604 0.538 1.6E-02 0.900 None 0.857 0 5 1999 2019
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		P46100 ATRX chromatin remodeler 29 0.452 0.808 1.00 0.410 None 1.000 0 1 2009 2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.120 None 1.000 4 5 2001 2016
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 0.110 None 1.000 0 1 2010 2010
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		P15884 transcription factor 4 Transcription factor 34 0.464 0.846 1.00 0.100 None 1.000 2 1 2011 2014
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2 		Q8IWQ3 BR serine/threonine kinase 2 Kinase 16 0.700 0.500 0.95 0.100 None 1.000 1 1 2019 2019
Entrez Id: 50846
Gene Symbol: DHH
DHH 		O43323 desert hedgehog signaling molecule 8 0.650 0.423 0.22 0.100 None 1.000 1 2 2018 2018
Entrez Id: 23347
Gene Symbol: SMCHD1
SMCHD1 		A6NHR9 structural maintenance of chromosomes flexible hinge domain containing 1 7 0.631 0.615 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		Q8WYB5 lysine acetyltransferase 6B Enzyme 26 0.525 0.731 1.00 0.100 None 1.000 1 2 2016 2016
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: 6598
Gene Symbol: SMARCB1
SMARCB1 		Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 43 0.434 0.846 1.00 0.100 None 0 1
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		Q5T011 SZT2 subunit of KICSTOR complex 10 0.670 0.423 2.3E-14 0.100 None 0 2
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2 		P31213 steroid 5 alpha-reductase 2 Enzyme 5 0.564 0.615 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: 2259
Gene Symbol: FGF14
FGF14 		Q92915 fibroblast growth factor 14 Signaling 19 0.619 0.692 0.91 0.100 None 0 1
Entrez Id: 745
Gene Symbol: MYRF
MYRF 		Q9Y2G1 myelin regulatory factor 21 0.584 0.731 1.00 0.100 None 0 1
Entrez Id: 746
Gene Symbol: TMEM258
TMEM258 		P61165 transmembrane protein 258 17 0.644 0.654 1.9E-03 0.100 None 0 1
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A 		Q71U36 tubulin alpha 1a Cellular structure 20 0.597 0.769 0.97 0.100 None 0 1
Entrez Id: 79228
Gene Symbol: THOC6
THOC6 		Q86W42 THO complex 6 14 0.705 0.577 4.8E-04 0.100 None 0 2
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: 80144
Gene Symbol: FRAS1
FRAS1 		Q86XX4 Fraser extracellular matrix complex subunit 1 10 0.560 0.577 3.1E-45 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: 25836
Gene Symbol: NIPBL
NIPBL 		Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 33 0.521 0.808 1.00 0.100 None 0 1
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		Q6UB99 ankyrin repeat domain 11 63 0.556 0.808 1.00 0.100 None 0 1
Entrez Id: 341640
Gene Symbol: FREM2
FREM2 		Q5SZK8 FRAS1 related extracellular matrix 2 23 0.566 0.577 3.6E-11 0.100 None 0 1