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: C0040072
Disease: Thymic Cyst
Thymic Cyst
1 0 1 0.50 0 0
Klippel-Feil deformity, conductive deafness, and absent vagina
1 0 1 0.50 0 0
CUI: C0266273
Disease: Congenital absence of adrenal gland
Congenital absence of adrenal gland
2 0 1 0.33 0 0
CUI: C1840390
Disease: Pseudohypoaldosteronism, Type IIb
Pseudohypoaldosteronism, Type IIb
2 0 1 0.33 0 0
CUI: C1841990
Disease: Aplasia of the vagina
Aplasia of the vagina
2 0 1 0.33 0 0
Aplasia/Hypoplasia of the fallopian tube
2 0 1 0.33 0 0
CUI: C4021610
Disease: Bilateral lung agenesis
Bilateral lung agenesis
3 0 1 0.25 0 0
CUI: C1850041
Disease: Facial hirsutism
Facial hirsutism
4 0 1 0.20 0 0
CUI: C1855335
Disease: Hypoplasia of the bladder
Hypoplasia of the bladder
4 0 1 0.20 0 0
CUI: C1864584
Disease: Frontal balding
Frontal balding
4 0 1 0.20 0 0
CUI: C4329692
Disease: Craniotubular Hyperostosis
Craniotubular Hyperostosis
4 0 1 0.20 0 0
Mullerian Aplasia and Hyperandrogenism
5 0 1 0.17 0 0
CUI: C4072885
Disease: Increased serum testosterone level
Increased serum testosterone level
5 0 1 0.17 0 0
CUI: C1860244
Disease: Malrotation of small bowel
Malrotation of small bowel
7 0 1 0.12 0 0
CUI: C1969073
Disease: Hyperchloremic metabolic acidosis
Hyperchloremic metabolic acidosis
8 0 1 0.11 0 0
CUI: C4021818
Disease: Abnormality of the ovary
Abnormality of the ovary
8 0 1 0.11 0 0
CUI: C4551490
Disease: Ovotestis
Ovotestis
8 0 1 0.11 0 0
CUI: C0425913
Disease: Uterus absent (finding)
Uterus absent (finding)
10 0 1 9.1E-02 0 0
CUI: C0431637
Disease: Mullerian aplasia
Mullerian aplasia
10 0 1 9.1E-02 0 0
Pseudohypoaldosteronism, Type I, Autosomal Recessive
10 0 1 9.1E-02 0 0
Hyperpotassemia and Hypertension, Familial
10 0 1 9.1E-02 0 0
CUI: C4021794
Disease: Abnormality of the adrenal glands
Abnormality of the adrenal glands
10 0 1 9.1E-02 0 0
CUI: C0085679
Disease: Hyperchloremia
Hyperchloremia
12 0 1 7.7E-02 0 0
CUI: C1834124
Disease: Shield chest
Shield chest
12 0 1 7.7E-02 0 0
CUI: C1856023
Disease: Abnormal vagina morphology
Abnormal vagina morphology
12 0 1 7.7E-02 0 0