Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C4021124
Disease: Adrenocorticotropic hormone excess
Adrenocorticotropic hormone excess 		5 0 5 0.42 0 0
CUI: C0857899
Disease: Decreased circulating aldosterone level
Decreased circulating aldosterone level 		16 0 6 0.27 0 0
CUI: C0266275
Disease: Ectopic adrenal gland
Ectopic adrenal gland 		3 0 3 0.25 0 0
CUI: C1836623
Disease: Decreased circulating cortisol level
Decreased circulating cortisol level 		23 0 7 0.25 0 0
CUI: C4022554
Disease: Hyperpigmented genitalia
Hyperpigmented genitalia 		3 0 3 0.25 0 0
CUI: C4022695
Disease: Abnormality of the labia majora
Abnormality of the labia majora 		4 0 3 0.23 0 0
CUI: C3671887
Disease: Hypernatriuria
Hypernatriuria 		17 0 5 0.21 0 0
CUI: C4021823
Disease: Ambiguous genitalia, male
Ambiguous genitalia, male 		13 0 4 0.19 0 0
CUI: C4476786
Disease: Testicular adrenal rest tumor
Testicular adrenal rest tumor 		8 0 3 0.18 0 0
CUI: C4024878
Disease: Generalized hyperpigmentation
Generalized hyperpigmentation 		42 0 8 0.17 0 0
CUI: C1846347
Disease: Renal salt wasting
Renal salt wasting 		22 0 5 0.17 0 0
CUI: C0151639
Disease: Decreased fertility in females
Decreased fertility in females 		23 0 5 0.17 0 0
CUI: C0302280
Disease: Adrenogenital Syndrome
Adrenogenital Syndrome 		16 0 4 0.17 0 0
CUI: C0857898
Disease: Abnormal circulating aldosterone
Abnormal circulating aldosterone 		2 0 2 0.17 0 0
CUI: C4024734
Disease: Low maternal serum estriol
Low maternal serum estriol 		2 0 2 0.17 0 0
CUI: C4531035
Disease: Abnormal pulmonary valve cusp morphology
Abnormal pulmonary valve cusp morphology 		2 0 2 0.17 0 0
CUI: C1848178
Disease: Female external genitalia in individual with 46,XY karyotype
Female external genitalia in individual with 46,XY karyotype 		17 0 4 0.16 0 0
CUI: C0020461
Disease: Hyperkalemia
Hyperkalemia 		32 0 6 0.16 0 0
CUI: C4025891
Disease: Ambiguous genitalia, female
Ambiguous genitalia, female 		10 0 3 0.16 0 0
CUI: C0342546
Disease: Premature adrenarche
Premature adrenarche 		18 0 4 0.15 0 0
CUI: C0426636
Disease: Urgent desire for stool
Urgent desire for stool 		3 0 2 0.15 0 0
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly 		18 0 4 0.15 0 0
CUI: C4022606
Disease: Lack of bowel sounds
Lack of bowel sounds 		3 0 2 0.15 0 0
CUI: C4024641
Disease: Enlarged polycystic ovaries
Enlarged polycystic ovaries 		18 0 4 0.15 0 0
CUI: C4025789
Disease: Psychotic mentation
Psychotic mentation 		3 0 2 0.15 0 0