Source: HPO

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: 10587
Gene Symbol: TXNRD2
TXNRD2 		thioredoxin reductase 2 0.548 0.731 3.5E-11
CUI: C4023574
Disease: Abnormality of circulating adrenocorticotropin level
Abnormality of circulating adrenocorticotropin level 		phenotype 0.100 None 0 0
Entrez Id: 23530
Gene Symbol: NNT
NNT 		nicotinamide nucleotide transhydrogenase 0.601 0.577 0.97
CUI: C4023574
Disease: Abnormality of circulating adrenocorticotropin level
Abnormality of circulating adrenocorticotropin level 		phenotype 0.100 None 0 0
Entrez Id: 4158
Gene Symbol: MC2R
MC2R 		melanocortin 2 receptor 0.582 0.654 3.1E-04
CUI: C4023574
Disease: Abnormality of circulating adrenocorticotropin level
Abnormality of circulating adrenocorticotropin level 		phenotype 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A 		protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C4023574
Disease: Abnormality of circulating adrenocorticotropin level
Abnormality of circulating adrenocorticotropin level 		phenotype 0.100 None 0 0
Entrez Id: 56246
Gene Symbol: MRAP
MRAP 		melanocortin 2 receptor accessory protein 0.674 0.500 2.1E-03
CUI: C4023574
Disease: Abnormality of circulating adrenocorticotropin level
Abnormality of circulating adrenocorticotropin level 		phenotype 0.100 None 0 0
Entrez Id: 6770
Gene Symbol: STAR
STAR 		steroidogenic acute regulatory protein 0.513 0.808 8.8E-11
CUI: C4023574
Disease: Abnormality of circulating adrenocorticotropin level
Abnormality of circulating adrenocorticotropin level 		phenotype 0.100 None 0 0