Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553794464
rs1553794464
ZBTB20 ; ZBTB20-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		AC 0.700 GeneticVariation CLINVAR Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome. 28462983

2017
dbSNP: rs1553794464
rs1553794464
ZBTB20 ; ZBTB20-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		AC 0.700 GeneticVariation CLINVAR Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism. 27061120

2016
dbSNP: rs1553794464
rs1553794464
ZBTB20 ; ZBTB20-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		AC 0.700 GeneticVariation CLINVAR Mutations in ZBTB20 cause Primrose syndrome. 25017102

2014
dbSNP: rs1553794464
rs1553794464
ZBTB20 ; ZBTB20-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		AC 0.700 GeneticVariation CLINVAR Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders. 23032108

2013
dbSNP: rs1553794464
rs1553794464
ZBTB20 ; ZBTB20-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		AC 0.700 GeneticVariation CLINVAR A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. 22180640

2012
dbSNP: rs1553794464
rs1553794464
ZBTB20 ; ZBTB20-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		AC 0.700 GeneticVariation CLINVAR Additional features of unique Primrose syndrome phenotype. 21567911

2011
dbSNP: rs1553794464
rs1553794464
ZBTB20 ; ZBTB20-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		AC 0.700 GeneticVariation CLINVAR Zinc finger protein Zbtb20 is essential for postnatal survival and glucose homeostasis. 19273596

2009