Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
0.130 GeneticVariation disease BEFREE Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations. 29883675 2018
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
0.130 GeneticVariation disease BEFREE Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction. 30121372 2018
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
0.130 GeneticVariation disease BEFREE Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. 29967526 2018
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
0.130 Biomarker disease HPO