Source: CLINGEN

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: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		disease 0.900 definitive 0.988 6 0 1999 2019
Entrez Id: 5885
Gene Symbol: RAD21
RAD21 		RAD21 cohesin complex component 0.528 0.846 1.00
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		disease 0.700 definitive 1.000 9 0 2007 2020
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		histone deacetylase 8 0.511 0.885 0.98
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		disease 0.600 definitive 0.963 5 0 2009 2019