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: rs318240750
rs318240750
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0015934
Disease:
Fetal Growth Retardation 		0.010 GeneticVariation BEFREE We identified the novel c.836G>[G;T] (p.Arg279Leu) mutation in a familial case of intrauterine growth retardation (IUGR) with RSS phenotype and no evidence of IMAGe. 24065356 2013
dbSNP: rs318240750
rs318240750
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0175693
Disease:
Russell-Silver syndrome 		0.010 GeneticVariation BEFREE We identified the novel c.836G>[G;T] (p.A</span>rg279Leu</span>) mutation in a familial case of intrauterine growth retardation (IUGR) with RSS phenotype and no evidence of IMAGe. 24065356 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
dbSNP: rs137852766
rs137852766
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1554937726
rs1554937726
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		GCAC 0.700 GeneticVariation CLINVAR
dbSNP: rs1554937847
rs1554937847
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		CGGGGCGGGGGCCGGGGCCGGGGCCG 0.700 CausalMutation CLINVAR
dbSNP: rs1554938087
rs1554938087
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554938194
rs1554938194
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554938197
rs1554938197
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		CCCAGCTGGAA 0.700 CausalMutation CLINVAR
dbSNP: rs1564929426
rs1564929426
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1564929520
rs1564929520
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1564929584
rs1564929584
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs267606716
rs267606716
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs267606716
rs267606716
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387906399
rs387906399
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587777866
rs587777866
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		G 0.700 CausalMutation CLINVAR