RELN, reelin, 5649

N. diseases: 178; N. variants: 52
Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554404338
rs1554404338
Entrez Id: 5649
Gene Symbol: RELN
RELN
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR RELN rare variants in myoclonus-dystonia. 25648840 2015
dbSNP: rs1554404338
rs1554404338
Entrez Id: 5649
Gene Symbol: RELN
RELN
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. 26046367 2015
dbSNP: rs1554404338
rs1554404338
Entrez Id: 5649
Gene Symbol: RELN
RELN
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Whole-genome sequencing of quartet families with autism spectrum disorder. 25621899 2015
dbSNP: rs1554404338
rs1554404338
Entrez Id: 5649
Gene Symbol: RELN
RELN
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
dbSNP: rs1554404338
rs1554404338
Entrez Id: 5649
Gene Symbol: RELN
RELN
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population. 17955477 2008
dbSNP: rs1554404338
rs1554404338
Entrez Id: 5649
Gene Symbol: RELN
RELN
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. 17431900 2007
dbSNP: rs1554404338
rs1554404338
Entrez Id: 5649
Gene Symbol: RELN
RELN
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR The role of RELN in lissencephaly and neuropsychiatric disease. 16958033 2007
dbSNP: rs1554404338
rs1554404338
Entrez Id: 5649
Gene Symbol: RELN
RELN
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. 11748497 2001
dbSNP: rs1554404338
rs1554404338
Entrez Id: 5649
Gene Symbol: RELN
RELN
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. 10973257 2000