Disease: Lissencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.410 GeneticVariation disease BEFREE A ninth child had similar lissencephaly but only subtle brainstem dysplasia associated with a heterozygous de novo missense variant in the spectrin repeat domain of MACF1. 30471716 2018
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.410 CausalMutation disease CLINVAR A ninth child had similar lissencephaly but only subtle brainstem dysplasia associated with a heterozygous de novo missense variant in the spectrin repeat domain of MACF1. 30471716 2018
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.410 Biomarker disease GENOMICS_ENGLAND A ninth child had similar lissencephaly but only subtle brainstem dysplasia associated with a heterozygous de novo missense variant in the spectrin repeat domain of MACF1. 30471716 2018
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.410 Biomarker disease GENOMICS_ENGLAND The role of microtubule actin cross-linking factor 1 (MACF1) in the Wnt signaling pathway. 16815997 2006