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: rs104894086
rs104894086
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: rs104894086
rs104894086
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		T 0.800 GeneticVariation CLINVAR Cholesterol binding does not predict activity of the steroidogenic acute regulatory protein, StAR. 17301050 2007
dbSNP: rs104894086
rs104894086
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		T 0.800 GeneticVariation CLINVAR A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings. 15546900 2005
dbSNP: rs104894086
rs104894086
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.800 GeneticVariation UNIPROT A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia. 10566637 1999
dbSNP: rs104894086
rs104894086
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.800 GeneticVariation UNIPROT Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. 9097960 1997
dbSNP: rs104894086
rs104894086
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.800 GeneticVariation UNIPROT The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. 8948562 1996
dbSNP: rs104894086
rs104894086
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.800 GeneticVariation UNIPROT Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. 7892608 1995
dbSNP: rs104894086
rs104894086
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104894086
rs104894086
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		A 0.800 CausalMutation CLINVAR