SH2B2, SH2B adaptor protein 2, 10603

N. diseases: 59; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200345816
rs200345816
Entrez Id: 1523;10603
Gene Symbol: CUX1;SH2B2
CUX1;SH2B2
CUI: C0014544
Disease:
Epilepsy 		0.010 GeneticVariation BEFREE The second individual had a homozygous missense mutation (c.1929C>A [p.His643Gln]) and presented with developmental delay and epilepsy in childhood. 30982608 2019
dbSNP: rs200345816
rs200345816
Entrez Id: 1523;10603
Gene Symbol: CUX1;SH2B2
CUX1;SH2B2
CUI: C0424605
Disease:
Developmental delay (disorder) 		0.010 GeneticVariation BEFREE The second individual had a homozygous missense mutation (c.1929C>A [p.His643Gln]) and presented with developmental delay and epilepsy in childhood. 30982608 2019
dbSNP: rs200345816
rs200345816
Entrez Id: 1523;10603
Gene Symbol: CUX1;SH2B2
CUX1;SH2B2
CUI: C0557874
Disease:
Global developmental delay 		0.010 GeneticVariation BEFREE The second individual had a homozygous missense mutation (c.1929C>A [p.His643Gln]) and presented with developmental delay and epilepsy in childhood. 30982608 2019