Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25914
Gene Symbol: RTTN
RTTN 		0.700 Biomarker disease GENOMICS_ENGLAND 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 		0.700 GermlineCausalMutation disease ORPHANET RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans. 26608784 2015
Entrez Id: 25914
Gene Symbol: RTTN
RTTN 		0.700 Biomarker disease GENOMICS_ENGLAND RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans. 26608784 2015
Entrez Id: 25914
Gene Symbol: RTTN
RTTN 		0.700 GeneticVariation disease UNIPROT RTTN mutations link primary cilia function to organization of the human cerebral cortex. 22939636 2012
Entrez Id: 25914
Gene Symbol: RTTN
RTTN 		0.700 Biomarker disease GENOMICS_ENGLAND RTTN mutations link primary cilia function to organization of the human cerebral cortex. 22939636 2012
Entrez Id: 25914
Gene Symbol: RTTN
RTTN 		0.700 Biomarker disease CTD_human
Entrez Id: 25914
Gene Symbol: RTTN
RTTN 		0.700 CausalMutation disease CLINVAR
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		0.010 GeneticVariation disease BEFREE Mutations of FIG4 result in the inherited disorders Charcot-Marie-Tooth disease type 4J, Yunis-Varón syndrome, and polymicrogyria with seizures. 27292112 2016