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: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2
2 0 2 1.00 0 0
CUI: C2930797
Disease: Hepatic ductular hypoplasia
Hepatic ductular hypoplasia
2 0 2 1.00 0 0
Serpentine fibula polycystic kidney syndrome
1 0 1 0.50 0 0
CUI: C1859366
Disease: Hypoplastic 5th lumbar vertebrae
Hypoplastic 5th lumbar vertebrae
1 0 1 0.50 0 0
CUI: C1861627
Disease: Butterfly vertebral arch
Butterfly vertebral arch
1 0 1 0.50 0 0
CUI: C1863311
Disease: Elongated sella turcica
Elongated sella turcica
1 0 1 0.50 0 0
CUI: C1863313
Disease: Tall lumbar vertebral bodies
Tall lumbar vertebral bodies
1 0 1 0.50 0 0
CUI: C1863314
Disease: Cervical instability
Cervical instability
1 0 1 0.50 0 0
CUI: C1863317
Disease: Crowded carpal bones
Crowded carpal bones
1 0 1 0.50 0 0
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
1 2 1 0.50 1 2.0E-02
CUI: C2930971
Disease: Acroosteolysis dominant type
Acroosteolysis dominant type
1 0 1 0.50 0 0
CUI: C4021169
Disease: Partial absence of toe
Partial absence of toe
1 0 1 0.50 0 0
CUI: C4703714
Disease: Periocular capillary hemangioma
Periocular capillary hemangioma
1 0 1 0.50 0 0
Intraductal papillary-mucinous adenoma
5 0 2 0.40 0 0
Pulmonary Atresia with Intact Ventricular Septum
2 0 1 0.33 0 0
CUI: C3805239
Disease: Mid aortic syndrome
Mid aortic syndrome
2 0 1 0.33 0 0
Reduced number of intrahepatic bile ducts
2 0 1 0.33 0 0
CUI: C0266242
Disease: Congenital hypoplasia of bile duct
Congenital hypoplasia of bile duct
3 0 1 0.25 0 0
CUI: C0596377
Disease: connective tissue hyperplasia
connective tissue hyperplasia
3 0 1 0.25 0 0
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome
8 0 2 0.25 0 0
Lymphoepithelioma-Like Hepatocellular Carcinoma
3 0 1 0.25 0 0
CUI: C3277688
Disease: Progressive forgetfulness
Progressive forgetfulness
3 1 1 0.25 1 2.1E-02
CUI: C2146481
Disease: Bilateral vocal cord paralysis
Bilateral vocal cord paralysis
4 2 1 0.20 1 2.0E-02
CUI: C4025347
Disease: Weakness of muscles of respiration
Weakness of muscles of respiration
4 1 1 0.20 1 2.1E-02
CUI: C0457533
Disease: Desmoplastic ameloblastoma
Desmoplastic ameloblastoma
5 0 1 0.17 0 0