STAR, steroidogenic acute regulatory protein, 6770

N. diseases: 177; N. variants: 39
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852689
rs137852689
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.810 GeneticVariation BEFREE Together, these results indicate that this patient is a compound heterozygote for the mutation in the StAR gene (T217R and A218V) and that these mutations inactivate the StAR function and give rise to clinically manifest CLAH. 10566637 1999
dbSNP: rs137852689
rs137852689
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.810 GeneticVariation UNIPROT Together, these results indicate that this patient is a compound heterozygote for the mutation in the StAR gene (T217R and A218V) and that these mutations inactivate the StAR function and give rise to clinically manifest CLAH. 10566637 1999
dbSNP: rs137852690
rs137852690
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.810 GeneticVariation BEFREE Together, these results indicate that this patient is a compound heterozygote for the mutation in the StAR gene (T217R and A218V) and that these mutations inactivate the StAR function and give rise to clinically manifest CLAH. 10566637 1999
dbSNP: rs137852690
rs137852690
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.810 GeneticVariation UNIPROT Together, these results indicate that this patient is a compound heterozygote for the mutation in the StAR gene (T217R and A218V) and that these mutations inactivate the StAR function and give rise to clinically manifest CLAH. 10566637 1999
dbSNP: rs137852689
rs137852689
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.810 GeneticVariation UNIPROT Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. 9097960 1997
dbSNP: rs137852690
rs137852690
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.810 GeneticVariation UNIPROT Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. 9097960 1997
dbSNP: rs137852689
rs137852689
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.810 GeneticVariation UNIPROT The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. 8948562 1996
dbSNP: rs137852690
rs137852690
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.810 GeneticVariation UNIPROT The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. 8948562 1996
dbSNP: rs137852689
rs137852689
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.810 GeneticVariation UNIPROT Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. 7892608 1995
dbSNP: rs137852690
rs137852690
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.810 GeneticVariation UNIPROT Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. 7892608 1995
dbSNP: rs137852689
rs137852689
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		G 0.810 CausalMutation CLINVAR
dbSNP: rs137852690
rs137852690
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		A 0.810 CausalMutation CLINVAR
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: 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: 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: 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: 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