CDKN1C, cyclin dependent kinase inhibitor 1C, 1028

N. diseases: 298; N. variants: 32
Disease: Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs318240750
rs318240750
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C1846009
Disease:
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies 		A 0.800 CausalMutation CLINVAR Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. 22634751 2012
dbSNP: rs318240750
rs318240750
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C1846009
Disease:
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies 		G 0.800 CausalMutation CLINVAR Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. 22634751 2012
dbSNP: rs318240750
rs318240750
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C1846009
Disease:
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