RELN, reelin, 5649

N. diseases: 178; N. variants: 52
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		0.700 GermlineCausalMutation disease ORPHANET Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. 10973257 2000
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		0.700 Biomarker disease GENOMICS_ENGLAND Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. 10973257 2000
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		0.700 Biomarker disease GENOMICS_ENGLAND A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. 7682675 1993
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		0.700 CausalMutation disease CLINVAR
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		0.700 Biomarker disease CTD_human