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: 2627
Gene Symbol: GATA6
GATA6 		Q92908 GATA binding protein 6 14 0.478 0.808 1.00 0.140 None 1.000 1 1 2011 2014
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		Q99593 T-box transcription factor 5 Transcription factor 10 0.528 0.769 1.00 0.140 None 0.800 1 2 2000 2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.110 None 1.000 0 1 2007 2007
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 1.000 5 1 2007 2011
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: 6329
Gene Symbol: SCN4A
SCN4A 		P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 44 0.554 0.731 1.3E-02 0.100 None 1.000 2 2 2004 2008
Entrez Id: 285051
Gene Symbol: STPG4
STPG4 		Q8N801 sperm-tail PG-rich repeat containing 4 4 0.659 0.577 9.5E-05 0.100 None 1.000 1 1 2016 2016
Entrez Id: 57217
Gene Symbol: TTC7A
TTC7A 		Q9ULT0 tetratricopeptide repeat domain 7A 8 0.641 0.577 1.5E-31 0.100 None 1.000 1 1 2016 2016
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		Q06945 SRY-box transcription factor 4 Transcription factor 11 0.489 0.808 0.93 0.100 None 1.000 1 1 2019 2019
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A 		Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 16 0.612 0.538 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		O14686 lysine methyltransferase 2D 26 0.465 0.808 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		Q13586 stromal interaction molecule 1 27 0.501 0.808 0.78 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: 8289
Gene Symbol: ARID1A
ARID1A 		O14497 AT-rich interaction domain 1A 47 0.455 0.846 1.00 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 2
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		P53007 solute carrier family 25 member 1 Transporter 13 0.553 0.731 5.9E-02 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: 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: 153241
Gene Symbol: CEP120
CEP120 		Q8N960 centrosomal protein 120 17 0.564 0.731 4.1E-15 0.100 None 0 1
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		P78504 jagged canonical Notch ligand 1 34 0.429 0.808 1.00 0.100 None 0 1
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		P54259 atrophin 1 4 0.409 0.885 1.00 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		Q9UHX1 poly(U) binding splicing factor 60 37 0.536 0.769 1.00 0.100 None 0 1
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1 		Q12946 forkhead box F1 6 0.540 0.692 0.96 0.100 None 0 1
Entrez Id: 25980
Gene Symbol: AAR2
AAR2 		Q9Y312 AAR2 splicing factor 8 0.839 0.192 8.3E-06 0.100 None 0 1