CDKN1C, cyclin dependent kinase inhibitor 1C, 1028
N. diseases: 298; N. variants: 32
Source: ALL
| Disease | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year |
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0.800 | Biomarker | disease | BEFREE | We discuss (a) the role of the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal and reproductive dysfunction; (b) multisystem growth restriction syndromes due to gain-of-function in the growth repressors CDKN1C (IMAGE syndrome) and SAMD9 (MIRAGE syndrome), or loss of POLE1; (c) nonclassic forms of STAR and P450scc/CYP11A1 insufficiency that present with a delayed-onset adrenal phenotype and represent a surprisingly prevalent cause of undiagnosed PAI; and (d) a new sphingolipidosis causing PAI due to defects in sphingosine-1-phosphate lyase-1 (SGPL1). | 31610036 | 2020 |
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0.800 | GeneticVariation | disease | BEFREE | Phenotypically, these individuals had clinical features closely resembling IMAGe syndrome (intrauterine growth restriction [IUGR], metaphyseal dysplasia, adrenal hypoplasia congenita, and genitourinary anomalies in males), a disorder previously associated with gain-of-function mutations in CDKN1C. | 30503519 | 2018 |
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0.800 | GeneticVariation | disease | BEFREE | Recently, gain-of-function mutations in the PCNA domain of CDKN1C have been reported as the genetic basis of various growth-retarded syndromes including IMAGe syndrome, Russell Silver syndrome as well as a novel undergrowth syndrome that additionally exhibited early adulthood onset diabetes. | 28508599 | 2017 |
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0.800 | GeneticVariation | disease | BEFREE | Some genetic alterations suggest a role for increased dosage of the imprinted CYCLIN DEPENDENT KINASE INHIBITOR 1C (CDKN1C) gene, often mutated in IMAGe Syndrome and Beckwith-Wiedemann Syndrome (BWS). | 26963625 | 2016 |
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0.800 | CausalMutation | disease | CLINVAR | Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio. | 25614875 | 2014 |
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0.800 | GeneticVariation | disease | BEFREE | With recent reports of gain-of-function mutations of the PCNA domain of CDKN1C in growth-retarded patients with IMAGe syndrome or Silver-Russell syndrome (SRS), its key role for growth has been confirmed. | 25262539 | 2014 |
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0.800 | GeneticVariation | disease | BEFREE | CDKN1C mutations are associated with growth disorders, including Beckwith-Wiedemann syndrome and IMAGe syndrome. | 25057881 | 2014 |
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0.800 | CausalMutation | disease | CLINVAR | A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes. | 25057881 | 2014 |
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0.800 | GeneticVariation | disease | BEFREE | Furthermore, lack of CDKN1C mutation in case 3 implies genetic heterogeneity in IMAGe syndrome. | 24313804 | 2014 |
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0.800 | GeneticVariation | disease | BEFREE | CDKN1C mutations lead to Beckwith Wiedemann syndrome (BWS, overgrowth syndrome) and in IMAGe syndrome which associates growth retardation and adrenal insufficiency. | 24065356 | 2013 |
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0.800 | Biomarker | disease | BEFREE | These results thus suggested that the reduced-growth phenotype of IMAGe syndrome derives from CDKN1C gain-of-function due to IMAGe-associated mutations driving increased protein stability. | 24098681 | 2013 |
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0.800 | CausalMutation | disease | CLINVAR | Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome. | 24098681 | 2013 |
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0.800 | GeneticVariation | disease | BEFREE | Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. | 22634751 | 2012 |
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0.800 | GeneticVariation | disease | UNIPROT | Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. | 22634751 | 2012 |
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0.800 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. | 22634751 | 2012 |
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0.800 | GermlineCausalMutation | disease | ORPHANET | Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. | 22634751 | 2012 |
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0.800 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. | 22634751 | 2012 |
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0.800 | CausalMutation | disease | CLINVAR | Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. | 22634751 | 2012 |
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0.800 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. | 22634751 | 2012 |
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0.800 | Biomarker | disease | GENOMICS_ENGLAND | CDKN1C expression in Beckwith-Wiedemann syndrome patients with allele imbalance. | 10424812 | 1999 |
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0.800 | Biomarker | disease | GENOMICS_ENGLAND | Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. | 10424811 | 1999 |
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0.800 | Biomarker | disease | GENOMICS_ENGLAND | New p57KIP2 mutations in Beckwith-Wiedemann syndrome. | 9341892 | 1997 |
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0.800 | Biomarker | disease | CTD_human |