RELN, reelin, 5649

N. diseases: 178; N. variants: 52
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.050 GeneticVariation phenotype BEFREE A significant genetic association between SNP2 (located in intron 59 of RELN) and ASD was observed, and the log-additive model was accepted as the best inheritance model fitting this data (OR: 0.72, 95% CI: 0.54-0.97, P = 0.03). 17955477 2008
CUI: C0036572
Disease: Seizures
Seizures
0.050 GeneticVariation phenotype BEFREE Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the reelin (RELN) gene. 16724181 2006
CUI: C0036572
Disease: Seizures
Seizures
0.050 AlteredExpression phenotype BEFREE A recent report suggests that the down-regulation of reelin and glutamic acid decarboxylase (GAD(67)) mRNAs represents 2 of the more consistent findings thus far described in post-mortem material from schizophrenia (SZ) patients [reviewed in. 16574235 2006
CUI: C0036572
Disease: Seizures
Seizures
0.050 GeneticVariation phenotype BEFREE Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the reelin (RELN) gene. 15921228 2005
CUI: C0036572
Disease: Seizures
Seizures
0.050 GeneticVariation phenotype BEFREE Autosomal recessive lissencephaly with cerebellar hypoplasia; accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the RELN gene. 15816977 2005