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: 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 		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 		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 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 Homozygous Q258X mutation in the steroidogenic acute regulatory gene in a Japanese patient with congenital lipoid adrenal hyperplasia. 9279522 1997
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 Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. 7892608 1995