ZNRF3, zinc and ring finger 3, 84133

N. diseases: 41; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.040 Biomarker disease BEFREE The aim of this study was to investigate the status of Wnt/β-Catenin signaling pathway by analyzing the expression level of β-Catenin and the mutational status of APC, AXIN2, CTNNB1, and ZNRF3 in ACCs. 29872083 2018
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.040 GeneticVariation disease BEFREE Exome sequencing identified new major drivers in all tumor types, including KCNJ5, ATP1A1, ATP2B3 and CACNA1D mutations in aldosterone-producing adenomas (APA), PRKACA mutations in cortisol-producing adenomas (CPA), ARMC5 mutations in primary bilateral macronodular adrenocortical hyperplasia (PBMAH) and ZNRF3 mutations in adrenocortical carcinomas (ACC). 26739091 2016
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.040 GeneticVariation disease BEFREE Somatic mutations in ACC-established genes and recurrent ZNRF3 and TERT loci CNAs were mutually exclusive in the majority of cases. 25490274 2015
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.040 Biomarker disease BEFREE We performed exome sequencing and SNP array analysis of 45 ACCs and identified recurrent alterations in known driver genes (CTNNB1, TP53, CDKN2A, RB1 and MEN1) and in genes not previously reported in ACC (ZNRF3, DAXX, TERT and MED12), which we validated in an independent cohort of 77 ACCs. 24747642 2014