Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		disease 1.000 definitive 1.000 1 0 2012 2020
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A 		AT-rich interaction domain 1A 0.455 0.846 1.00
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		disease 0.730 strong 1.000 0 0 2012 2019
Entrez Id: 6605
Gene Symbol: SMARCE1
SMARCE1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 0.572 0.769 1.00
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		disease 0.670 None 1.000 0 0 2012 2020
Entrez Id: 6664
Gene Symbol: SOX11
SOX11 		SRY-box transcription factor 11 0.494 0.808 0.86
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		disease 0.660 None 0.833 0 0 2014 2019
Entrez Id: 6594
Gene Symbol: SMARCA1
SMARCA1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 0.504 0.808 1.00
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		disease 0.570 moderate 1.000 1 0 2012 2019
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 0.450 0.885 1.00
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		disease 0.570 None 0.875 0 0 2012 2018
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		disease 0.570 None 1.000 0 0 2012 2019
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0.527 0.769 1.00
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		disease 0.530 None 1.000 0 0 2012 2019
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		disease 0.330 None 1.000 0 0 2013 2014