Gene: RNF13 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11342
Gene Symbol: RNF13
RNF13 		0.310 GeneticVariation disease BEFREE Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive. 30595371 2019
Entrez Id: 11342
Gene Symbol: RNF13
RNF13 		0.310 Biomarker disease GENOMICS_ENGLAND Three unrelated affected individuals with congenital microcephaly, infantile epileptic encephalopathy, and profound developmental delay were found to carry heterozygous variants (c.932T>C [p.Leu311Ser] or c.935T>C [p.Leu312Pro]) in RNF13, which codes for an IRE1α-interacting protein. 30595371 2019