CDKN1C, cyclin dependent kinase inhibitor 1C, 1028

N. diseases: 298; N. variants: 32
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907226
rs387907226
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C1846009
Disease:
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies 		C 0.800 CausalMutation CLINVAR The condition in this patient, IMAGe syndrome, is likely caused by the heterozygous mutation c.832A>G (p.Lys278Glu) in the imprinted gene CDKN1C. 25614875 2014
dbSNP: rs387907223
rs387907223
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C1846009
Disease:
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies 		C 0.800 CausalMutation CLINVAR Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome. 24098681 2013
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
dbSNP: rs387907223
rs387907223
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
dbSNP: rs387907223
rs387907223
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C1846009
Disease:
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies 		C 0.800 CausalMutation CLINVAR Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. 22634751 2012
dbSNP: rs387907224
rs387907224
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
dbSNP: rs387907224
rs387907224
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: rs387907225
rs387907225
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
dbSNP: rs387907226
rs387907226
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
dbSNP: rs387907226
rs387907226
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C1846009
Disease:
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies 		C 0.800 CausalMutation CLINVAR Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. 22634751 2012
dbSNP: rs387907225
rs387907225
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C1846009
Disease:
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies 		T 0.800 CausalMutation CLINVAR
dbSNP: rs515726203
rs515726203
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C1846009
Disease:
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies 		0.710 GeneticVariation BEFREE We identified a novel heterozygous mutation, c.815T>G (p.Ile272Ser), in the CDKN1C gene in three siblings manifesting clinical symptoms associated with IMAGe syndrome and their mother (unaffected carrier). 24098681 2013
dbSNP: rs515726203
rs515726203
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C1846009
Disease:
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies 		C 0.710 CausalMutation CLINVAR We identified a novel heterozygous mutation, c.815T>G (p.Ile272Ser), in the CDKN1C gene in three siblings manifesting clinical symptoms associated with IMAGe syndrome and their mother (unaffected carrier). 24098681 2013
dbSNP: rs483352966
rs483352966
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		0.700 GeneticVariation UNIPROT Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. 26077438 2015
dbSNP: rs483352968
rs483352968
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		0.700 GeneticVariation UNIPROT Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. 26077438 2015
dbSNP: rs483352970
rs483352970
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		0.700 GeneticVariation UNIPROT Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. 26077438 2015
dbSNP: rs483352981
rs483352981
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		0.700 GeneticVariation UNIPROT Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. 26077438 2015
dbSNP: rs886037912
rs886037912
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C1846009
Disease:
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies 		A 0.700 CausalMutation CLINVAR A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes. 25057881 2014
dbSNP: rs483352966
rs483352966
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		0.700 GeneticVariation UNIPROT Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. 10424811 1999
dbSNP: rs483352968
rs483352968
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		0.700 GeneticVariation UNIPROT Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. 10424811 1999
dbSNP: rs483352970
rs483352970
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		0.700 GeneticVariation UNIPROT Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. 10424811 1999
dbSNP: rs483352981
rs483352981
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		0.700 GeneticVariation UNIPROT Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. 10424811 1999
dbSNP: rs104894200
rs104894200
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR New p57KIP2 mutations in Beckwith-Wiedemann syndrome. 9341892 1997