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: rs1042854
rs1042854
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.010 GeneticVariation BEFREE A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Mutations in brief no. 117. Online. 10215405 1998
dbSNP: rs104894085
rs104894085
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		A 0.740 CausalMutation CLINVAR High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia. 21846663 2011
dbSNP: rs104894085
rs104894085
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		A 0.740 CausalMutation CLINVAR The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. 8948562 1996
dbSNP: rs104894085
rs104894085
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		A 0.740 CausalMutation CLINVAR Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. 9097960 1997
dbSNP: rs104894085
rs104894085
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.740 GeneticVariation BEFREE The <i>STAR</i> p.Q258* mutation is the most common in Korean patients with CLAH, suggesting a founder effect. 28467518 2017
dbSNP: rs104894085
rs104894085
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.740 GeneticVariation BEFREE High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia. 21846663 2011
dbSNP: rs104894085
rs104894085
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.740 GeneticVariation BEFREE The Q258X mutation was identified in 9 out of 10 alleles, indicating that the genetic defect in the StAR gene of Korean patients with CLAH is highly homogeneous probably due to a founder effect. 9829224 1999
dbSNP: rs104894085
rs104894085
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		A 0.740 CausalMutation CLINVAR Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. 7892608 1995
dbSNP: rs104894085
rs104894085
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.740 GeneticVariation BEFREE Homozygous Q258X mutation in the steroidogenic acute regulatory gene in a Japanese patient with congenital lipoid adrenal hyperplasia. 9279522 1997
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 		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 		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 		A 0.800 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: 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 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 		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: C0030581
Disease:
Parotid Neoplasms 		0.010 GeneticVariation BEFREE We report a novel homozygous splice site mutation (IVS1 + 2T --> G) in STAR in two sisters (46XY, 46XX) who presented with primary adrenal insufficiency at birth and a novel homozygous R182H missense mutation in the putative lipid transfer domain of StAR in a phenotypic female (46XY) with adrenal failure and a parotid tumor. 11509019 2001
dbSNP: rs104894087
rs104894087
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894089
rs104894089
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		T 0.700 GeneticVariation CLINVAR Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. 16968793 2006
dbSNP: rs104894089
rs104894089
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		T 0.700 GeneticVariation CLINVAR Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia. 21647419 2011
dbSNP: rs104894089
rs104894089
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		T 0.700 GeneticVariation CLINVAR Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia. 28467518 2017
dbSNP: rs104894089
rs104894089
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894090
rs104894090
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		A 0.710 CausalMutation CLINVAR Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR). 20444910 2010