Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1
nuclear receptor subfamily 0 group B member 1 0.494 0.808 0.97
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
disease 1.000 strong 1.000 2 0 1994 2019
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
disease 0.360 strong 1.000 0 0 1997 2010
Entrez Id: 4158
Gene Symbol: MC2R
MC2R
melanocortin 2 receptor 0.582 0.654 3.1E-04
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
disease 0.310 strong 1.000 0 0 2010 2010
Entrez Id: 6770
Gene Symbol: STAR
STAR
steroidogenic acute regulatory protein 0.513 0.808 8.8E-11
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
disease 0.310 strong 1.000 0 0 2010 2010
Entrez Id: 23530
Gene Symbol: NNT
NNT
nicotinamide nucleotide transhydrogenase 0.601 0.577 0.97
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
disease 0.300 strong 1.000 1 0 2013 2013
Entrez Id: 4173
Gene Symbol: MCM4
MCM4
minichromosome maintenance complex component 4 0.666 0.654 1.5E-04
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
disease 0.300 moderate 1.000 1 0 2012 2012
Entrez Id: 326
Gene Symbol: AIRE
AIRE
autoimmune regulator 0.516 0.808 4.0E-12
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
disease 0.300 strong 0 0
Entrez Id: 56246
Gene Symbol: MRAP
MRAP
melanocortin 2 receptor accessory protein 0.674 0.500 2.1E-03
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
disease 0.300 strong 0 0