STAR, steroidogenic acute regulatory protein, 6770

N. diseases: 177; N. variants: 39
Disease: Lipoid congenital adrenal hyperplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369232492
rs369232492
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		A 0.700 GeneticVariation CLINVAR Phenotypic variability in congenital lipoid adrenal hyperplasia. 24953586 2014
dbSNP: rs369232492
rs369232492
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		A 0.700 GeneticVariation CLINVAR p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia. 24904850 2013
dbSNP: rs369232492
rs369232492
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		A 0.700 GeneticVariation CLINVAR A Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia. 24790358 2008
dbSNP: rs369232492
rs369232492
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		A 0.700 GeneticVariation CLINVAR Phenotypic features associated with mutations in steroidogenic acute regulatory protein. 16118340 2005