Gene: C12orf57 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 113246
Gene Symbol: C12orf57
C12orf57 		0.010 GeneticVariation disease BEFREE Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. 24798461 2014