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: rs747169620
rs747169620
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		T 0.800 GeneticVariation CLINVAR Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort. 26523528 2016
dbSNP: rs747169620
rs747169620
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		T 0.800 GeneticVariation CLINVAR The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development. 23920000 2013
dbSNP: rs747169620
rs747169620
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		T 0.800 GeneticVariation CLINVAR The mechanism of specific binding of free cholesterol by the steroidogenic acute regulatory protein: evidence for a role of the C-terminal alpha-helix in the gating of the binding site. 18729825 2009
dbSNP: rs747169620
rs747169620
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		T 0.800 GeneticVariation CLINVAR The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. 8948562 1996
dbSNP: rs747169620
rs747169620
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.800 GeneticVariation UNIPROT