Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		1.000 Biomarker GENOMICS_ENGLAND Novel human pathological mutations. Gene symbol: NROB1. Disease: adrenal hypoplasia. 19309798

2009
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		1.000 Biomarker GENOMICS_ENGLAND Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene. 10210708

1999
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.360 Biomarker GENOMICS_ENGLAND

Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 4158
Gene Symbol: MC2R
MC2R
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 23530
Gene Symbol: NNT
NNT
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.300 Biomarker GENOMICS_ENGLAND A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency. 23474776

2013
Entrez Id: 4173
Gene Symbol: MCM4
MCM4
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.300 Biomarker GENOMICS_ENGLAND MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. 22354170

2012
Entrez Id: 56246
Gene Symbol: MRAP
MRAP
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.300 Biomarker GENOMICS_ENGLAND