rs140451304, CFAP410

N. diseases: 3
Disease: Spondylometaphyseal dysplasia, axial ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Spondylometaphyseal dysplasia, axial
CUI: C1865695
Disease: Spondylometaphyseal dysplasia, axial
0.800 GeneticVariation UNIPROT Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum. 28422394 2017
Spondylometaphyseal dysplasia, axial
CUI: C1865695
Disease: Spondylometaphyseal dysplasia, axial
0.800 GeneticVariation UNIPROT Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy. 27548899 2016
Spondylometaphyseal dysplasia, axial
CUI: C1865695
Disease: Spondylometaphyseal dysplasia, axial
0.800 GeneticVariation UNIPROT Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. 26974433 2016
Spondylometaphyseal dysplasia, axial
CUI: C1865695
Disease: Spondylometaphyseal dysplasia, axial
0.800 GeneticVariation UNIPROT An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768 2015
Spondylometaphyseal dysplasia, axial
CUI: C1865695
Disease: Spondylometaphyseal dysplasia, axial
0.800 CausalMutation CLINVAR