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: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		disease 0.720 None 1.000 6 0 1989 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia 		disease 0.700 strong 1.000 1 0 2002 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C1853623
Disease: Fryns-Aftimos Syndrome
Fryns-Aftimos Syndrome 		disease 0.360 strong 1.000 2 0 2012 2017
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders 		group 0.310 strong 1.000 1 0 2012 2017
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0272183
Disease: Qualitative abnormality of granulocyte
Qualitative abnormality of granulocyte 		disease 0.310 limited 1.000 1 0 1999 1999