rs318240750, CDKN1C
N. diseases: 3
Source: ALL
Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year |
---|---|---|---|---|---|---|---|
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
|
0.800 | CausalMutation | CLINVAR | Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. | 22634751 | 2012 | |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
|
0.800 | CausalMutation | CLINVAR | Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. | 22634751 | 2012 | |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
|
0.800 | GeneticVariation | UNIPROT | Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. | 22634751 | 2012 |