NRXN1, neurexin 1, 9378

N. diseases: 139; N. variants: 41
Disease: PITT-HOPKINS-LIKE SYNDROME 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1476850082
rs1476850082
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C3280479
Disease:
PITT-HOPKINS-LIKE SYNDROME 2 		G 0.700 GeneticVariation CLINVAR Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis. 25149956 2014
dbSNP: rs1476850082
rs1476850082
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C3280479
Disease:
PITT-HOPKINS-LIKE SYNDROME 2 		G 0.700 GeneticVariation CLINVAR Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters. 21964664 2011
dbSNP: rs1476850082
rs1476850082
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C3280479
Disease:
PITT-HOPKINS-LIKE SYNDROME 2 		G 0.700 GeneticVariation CLINVAR CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. 19896112 2009