Source: CLINVAR

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: 64919
Gene Symbol: BCL11B
BCL11B 		BAF chromatin remodeling complex subunit BCL11B 0.568 0.731 0.99
CUI: C4310656
Disease: IMMUNODEFICIENCY 49
IMMUNODEFICIENCY 49 		disease 0.700 limited 1.000 0 2 2016 2018
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B 		BAF chromatin remodeling complex subunit BCL11B 0.568 0.731 0.99
CUI: C4748152
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 		disease 0.400 strong 1.000 0 5 2018 2018
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B 		BAF chromatin remodeling complex subunit BCL11B 0.568 0.731 0.99
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 19 1 2003 2016
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B 		BAF chromatin remodeling complex subunit BCL11B 0.568 0.731 0.99
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 19 1 2003 2016
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B 		BAF chromatin remodeling complex subunit BCL11B 0.568 0.731 0.99
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 19 2 2003 2016
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B 		BAF chromatin remodeling complex subunit BCL11B 0.568 0.731 0.99
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 1.000 19 1 2003 2016
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B 		BAF chromatin remodeling complex subunit BCL11B 0.568 0.731 0.99
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B 		BAF chromatin remodeling complex subunit BCL11B 0.568 0.731 0.99
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		disease 0.100 None 1.000 1 1 2016 2016