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: C0268337
Disease: Ehlers-Danlos syndrome, type 3 (disorder)
Ehlers-Danlos syndrome, type 3 (disorder) 		3 0 2 0.67 0 0
CUI: C0268288
Disease: Mild steroid 21-hydroxylase deficiency
Mild steroid 21-hydroxylase deficiency 		1 0 1 0.50 0 0
CUI: C0345002
Disease: Quadricuspid aortic valve
Quadricuspid aortic valve 		1 0 1 0.50 0 0
CUI: C1859995
Disease: Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency
Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency 		1 0 1 0.50 0 0
CUI: C1859998
Disease: CARCINOMA, ADRENOCORTICAL, ANDROGEN-SECRETING
CARCINOMA, ADRENOCORTICAL, ANDROGEN-SECRETING 		1 0 1 0.50 0 0
CUI: C3151153
Disease: ADENOMA, CORTISOL-PRODUCING
ADENOMA, CORTISOL-PRODUCING 		1 0 1 0.50 0 0
CUI: C3838669
Disease: Simple Virilizing 21-Hydroxylase Deficiency
Simple Virilizing 21-Hydroxylase Deficiency 		1 0 1 0.50 0 0
CUI: C4014831
Disease: VESICOURETERAL REFLUX 8
VESICOURETERAL REFLUX 8 		1 0 1 0.50 0 0
CUI: C4693985
Disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 1
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 1 		1 3 1 0.50 1 0.20
CUI: C0342464
Disease: Salt-losing congenital adrenal hyperplasia
Salt-losing congenital adrenal hyperplasia 		2 0 1 0.33 0 0
CUI: C0406481
Disease: Comedonal acne
Comedonal acne 		2 0 1 0.33 0 0
CUI: C0426317
Disease: Genitourinary symptoms
Genitourinary symptoms 		2 0 1 0.33 0 0
CUI: C2752038
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 		2 0 1 0.33 0 0
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		2 0 1 0.33 0 0
CUI: C3809950
Disease: COMPLEMENT FACTOR B DEFICIENCY
COMPLEMENT FACTOR B DEFICIENCY 		2 0 1 0.33 0 0
CUI: C0023806
Disease: Lipomucopolysaccharidosis
Lipomucopolysaccharidosis 		3 0 1 0.25 0 0
CUI: C0152093
Disease: Hypermobility syndrome
Hypermobility syndrome 		3 0 1 0.25 0 0
CUI: C0587178
Disease: Anti-nuclear antibody measurement
Anti-nuclear antibody measurement 		3 0 1 0.25 0 0
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		3 0 1 0.25 0 0
CUI: C0342467
Disease: Late onset congenital adrenal hyperplasia
Late onset congenital adrenal hyperplasia 		4 0 1 0.20 0 0
CUI: C4329672
Disease: Classic Congenital Adrenal Hyperplasia
Classic Congenital Adrenal Hyperplasia 		4 0 1 0.20 0 0
CUI: C0151664
Disease: Gastrointestinal perforation
Gastrointestinal perforation 		6 0 1 0.14 0 0
CUI: C1955743
Disease: Mineralocorticoid deficiency
Mineralocorticoid deficiency 		6 0 1 0.14 0 0
CUI: C4706552
Disease: Familial vesicoureteral reflux
Familial vesicoureteral reflux 		6 0 1 0.14 0 0
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		7 0 1 0.12 0 0