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: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B
1 0 1 0.11 0 0
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
1 0 1 0.11 0 0
Precocious puberty with Sertoli cell tumor
1 0 1 0.11 0 0
CUI: C1963822
Disease: Mucosal pigmentation
Mucosal pigmentation
1 0 1 0.11 0 0
CUI: C1969052
Disease: MECKEL SYNDROME, TYPE 5
MECKEL SYNDROME, TYPE 5
1 0 1 0.11 0 0
CUI: C1969053
Disease: JOUBERT SYNDROME 7
JOUBERT SYNDROME 7
1 0 1 0.11 0 0
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder)
1 0 1 0.11 0 0
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder)
1 0 1 0.11 0 0
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11
1 0 1 0.11 0 0
Familial Extrahepatic Biliary Atresia
1 0 1 0.11 0 0
Idiopathic Extrahepatic Biliary Atresia
1 0 1 0.11 0 0
BARDET-BIEDL SYNDROME 14, MODIFIER OF
1 0 1 0.11 0 0
Abnormal pigmentation of the oral mucosa
1 0 1 0.11 0 0
CUI: C4021963
Disease: Lip hyperpigmentation
Lip hyperpigmentation
1 0 1 0.11 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele
33 0 4 0.11 0 0
CUI: C1610065
Disease: Urethral atresia
Urethral atresia
23 0 3 0.10 0 0
CUI: C0282207
Disease: Cronkhite-Canada Syndrome
Cronkhite-Canada Syndrome
2 0 1 1.0E-01 0 0
Pulmonary Atresia with Intact Ventricular Septum
2 0 1 1.0E-01 0 0
Glucose phosphate isomerase deficiency
2 0 1 1.0E-01 0 0
CUI: C0740989
Disease: Chronic iron deficiency anaemia
Chronic iron deficiency anaemia
2 0 1 1.0E-01 0 0
CUI: C1142305
Disease: Melanonychia
Melanonychia
2 0 1 1.0E-01 0 0
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2
2 0 1 1.0E-01 0 0
CUI: C1857802
Disease: MORM syndrome
MORM syndrome
2 0 1 1.0E-01 0 0
CUI: C1859292
Disease: Triangular-shaped open mouth
Triangular-shaped open mouth
2 0 1 1.0E-01 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI
35 0 4 1.0E-01 0 0