Disease: Primrose syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		0.770 GeneticVariation disease BEFREE Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation. 31821719 2020
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		0.770 GeneticVariation disease BEFREE Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature. 30637921 2019
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		0.770 GeneticVariation disease BEFREE Both Patients 1 and 2 were found to carry heterozygous likely pathogenic missense variants, detected in the last coding exon of ZBTB20 (c.1822T>C, p.Cys608Arg, de novo, and c.1873A>G, p.Met625Val, respectively), consistent with PRIMS. 31321892 2019
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		0.770 GeneticVariation disease BEFREE Here, we report novel de novo ZBTB20 mutations in three independent cases with characteristic features of Primrose syndrome including constant CCA. 29681083 2018
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		0.770 GeneticVariation disease BEFREE Our data document that both mutations have dominant negative impact on wild-type ZBTB20, providing further evidence of the specific behavior of PS-causing mutations on ZBTB20 function. 29737001 2018
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		0.770 GeneticVariation disease BEFREE Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism. 27061120 2016
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome. 25017102 2014
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		0.770 Biomarker disease CTD_human We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome. 25017102 2014
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		0.770 GeneticVariation disease UNIPROT We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome. 25017102 2014
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		0.770 GermlineCausalMutation disease ORPHANET We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome. 25017102 2014
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		0.770 GeneticVariation disease BEFREE We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome. 25017102 2014
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND Motor tics, stereotypies, and self-flagellation in primrose syndrome. 20644156 2010
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		0.770 CausalMutation disease CLINVAR
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		0.770 GeneticVariation disease CLINVAR
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND