CUX2, cut like homeobox 2, 23316

N. diseases: 87; N. variants: 21
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1565909334
rs1565909334
Entrez Id: 23316;105369983
Gene Symbol: CUX2;LOC105369983
CUX2;LOC105369983
CUI: C4748341
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		A 0.700 GeneticVariation CLINVAR The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. 29630738 2018
dbSNP: rs1565909334
rs1565909334
Entrez Id: 23316;105369983
Gene Symbol: CUX2;LOC105369983
CUX2;LOC105369983
CUI: C4748341
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		A 0.700 GeneticVariation CLINVAR A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder. 29795476 2018
dbSNP: rs1565909334
rs1565909334
Entrez Id: 23316;105369983
Gene Symbol: CUX2;LOC105369983
CUX2;LOC105369983
CUI: C4748341
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		A 0.700 GeneticVariation CLINVAR Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100 2017
dbSNP: rs1565909334
rs1565909334
Entrez Id: 23316;105369983
Gene Symbol: CUX2;LOC105369983
CUX2;LOC105369983
CUI: C4748341
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		A 0.700 GeneticVariation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937 2012
dbSNP: rs1565909334
rs1565909334
Entrez Id: 23316;105369983
Gene Symbol: CUX2;LOC105369983
CUX2;LOC105369983
CUI: C4748341
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		A 0.700 CausalMutation CLINVAR