RELN, reelin, 5649

N. diseases: 178; N. variants: 52
Disease: Lissencephaly with cerebellar hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4274995
Disease: Lissencephaly with cerebellar hypoplasia
Lissencephaly with cerebellar hypoplasia 		0.040 GeneticVariation disease BEFREE Homozygous RELN mutations are known to cause lissencephaly with cerebellar hypoplasia. 26046367 2015
CUI: C4274995
Disease: Lissencephaly with cerebellar hypoplasia
Lissencephaly with cerebellar hypoplasia 		0.040 GeneticVariation disease BEFREE Point mutations in the RELN gene have been shown to cause an autosomal recessive human brain malformation termed lissencephaly with cerebellar hypoplasia (LCH). 16958033 2007
CUI: C4274995
Disease: Lissencephaly with cerebellar hypoplasia
Lissencephaly with cerebellar hypoplasia 		0.040 GeneticVariation disease BEFREE Autosomal recessive lissencephaly with cerebellar hypoplasia has been associated with mutations of the reelin gene. 12185771 2002
CUI: C4274995
Disease: Lissencephaly with cerebellar hypoplasia
Lissencephaly with cerebellar hypoplasia 		0.040 GeneticVariation disease BEFREE Autosomal recessive lissencephaly with cerebellar hypoplasia has been associated with mutations of the reelin gene. 11749114 2001