Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Familial Glucocorticoid Deficiency Type 1
12 18 10 0.23 3 7.7E-02
Congenital malformation syndromes associated with short stature
9 0 9 0.21 0 0
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency
9 4 9 0.21 1 3.7E-02
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome
12 0 9 0.20 0 0
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
20 0 10 0.19 0 0
CUI: C4476786
Disease: Testicular adrenal rest tumor
Testicular adrenal rest tumor
8 0 7 0.16 0 0
Decreased circulating cortisol level
23 0 8 0.14 0 0
Decreased circulating aldosterone level
16 0 7 0.14 0 0
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome
48 0 10 0.12 0 0
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
85 0 14 0.12 0 0
Noonan-Like Syndrome With Loose Anagen Hair
22 0 7 0.12 0 0
Impaired cortisol response to insulin stimulation test
5 0 5 0.12 0 0
Decreased circulating dehydroepiandrosterone level
5 0 5 0.12 0 0
CUI: C0271713
Disease: Ketotic hypoglycemia
Ketotic hypoglycemia
15 0 6 0.12 0 0
CUI: C4022011
Disease: Leydig cell neoplasia
Leydig cell neoplasia
6 0 5 0.12 0 0
Abnormality of circulating adrenocorticotropin level
6 0 5 0.12 0 0
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
16 0 6 0.12 0 0
Glucocorticoid deficiency with achalasia
17 0 6 0.11 0 0
CUI: C0518656
Disease: Chronic fatigue
Chronic fatigue
17 0 6 0.11 0 0
CUI: C3671887
Disease: Hypernatriuria
Hypernatriuria
17 0 6 0.11 0 0
CUI: C3887896
Disease: Primary Adrenal Insufficiency
Primary Adrenal Insufficiency
27 0 7 0.11 0 0
CUI: C0877056
Disease: Hypoglycemic seizures
Hypoglycemic seizures
19 0 6 0.11 0 0
Noonan syndrome-like disorder with loose anagen hair
19 0 6 0.11 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function
21 0 6 0.11 0 0
CUI: C1846347
Disease: Renal salt wasting
Renal salt wasting
22 0 6 0.10 0 0