Disease: Microphthalmia and mental deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776954
rs587776954
Entrez Id: 113246;100147744
Gene Symbol: C12orf57;RNU7-1
C12orf57;RNU7-1
CUI: C2931500
Disease:
Microphthalmia and mental deficiency 		0.010 GeneticVariation BEFREE We performed autozygome analysis and exome sequencing on a multiplex consanguineous family in which colobomatous microphthalmia is associated with profound global developmental delay, intractable seizures, and corpus callosum abnormalities, and we identified a homozygous truncating mutation in C12orf57 [c.1A>G; p.Met1?]. 23453665 2013
dbSNP: rs782655345
rs782655345
Entrez Id: 113246
Gene Symbol: C12orf57
C12orf57
CUI: C2931500
Disease:
Microphthalmia and mental deficiency 		0.010 GeneticVariation BEFREE We performed autozygome analysis and exome sequencing on a multiplex consanguineous family in which colobomatous microphthalmia is associated with profound global developmental delay, intractable seizures, and corpus callosum abnormalities, and we identified a homozygous truncating mutation in C12orf57 [c.1A>G; p.Met1?]. 23453665 2013