rs1554333853, CDK13

N. diseases: 54
Disease: Hypoplasia of the optic nerve ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypoplasia of the optic nerve
CUI: C0338502
Disease: Hypoplasia of the optic nerve
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017