Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23499
Gene Symbol: MACF1
MACF1
0.310 GeneticVariation phenotype 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
Entrez Id: 23499
Gene Symbol: MACF1
MACF1
0.310 Biomarker phenotype 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
Entrez Id: 23499
Gene Symbol: MACF1
MACF1
0.310 Biomarker phenotype GENOMICS_ENGLAND The role of microtubule actin cross-linking factor 1 (MACF1) in the Wnt signaling pathway. 16815997 2006