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: C1857662
Disease: COACH syndrome
COACH syndrome
4 0 4 0.44 0 0
Multiple small medullary renal cysts
6 0 4 0.36 0 0
CUI: C0175692
Disease: Johanson-Blizzard syndrome
Johanson-Blizzard syndrome
7 0 3 0.23 0 0
CUI: C4020922
Disease: Enlarged fossa interpeduncularis
Enlarged fossa interpeduncularis
4 0 2 0.18 0 0
CUI: C1855677
Disease: Brainstem dysplasia
Brainstem dysplasia
5 0 2 0.17 0 0
CUI: C3806216
Disease: Neonatal breathing dysregulation
Neonatal breathing dysregulation
5 0 2 0.17 0 0
Elongated superior cerebellar peduncle
7 0 2 0.14 0 0
CUI: C2936476
Disease: Chronic Liver Failure
Chronic Liver Failure
25 0 4 0.13 0 0
CUI: C4020869
Disease: Abnormality of abdomen morphology
Abnormality of abdomen morphology
17 0 3 0.13 0 0
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue
19 0 3 0.12 0 0
CUI: C4551631
Disease: Cystic liver disease
Cystic liver disease
19 0 3 0.12 0 0
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc
30 0 4 0.11 0 0
CUI: C0152516
Disease: Bacterial enteritis
Bacterial enteritis
1 0 1 0.11 0 0
CUI: C0154007
Disease: Benign neoplasm of testis
Benign neoplasm of testis
1 0 1 0.11 0 0
CUI: C0265323
Disease: Peutz-Jeghers polyps of small bowel
Peutz-Jeghers polyps of small bowel
1 0 1 0.11 0 0
CUI: C0275553
Disease: Bacterial cholangitis
Bacterial cholangitis
1 0 1 0.11 0 0
CUI: C0406425
Disease: Laugier-Hunziker syndrome
Laugier-Hunziker syndrome
1 0 1 0.11 0 0
CUI: C0406814
Disease: Labial lentigo
Labial lentigo
1 0 1 0.11 0 0
CUI: C0456487
Disease: Peutz Jehgers polyp
Peutz Jehgers polyp
1 0 1 0.11 0 0
Neoplasm of uncertain or unknown behavior of testis
1 0 1 0.11 0 0
CUI: C1142307
Disease: Paratubal Cyst
Paratubal Cyst
1 0 1 0.11 0 0
CUI: C1832471
Disease: Renal dysplasia diffuse cystic
Renal dysplasia diffuse cystic
1 0 1 0.11 0 0
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6
1 0 1 0.11 0 0
CUI: C1855675
Disease: Arima syndrome
Arima syndrome
11 0 2 0.11 0 0
CUI: C1861627
Disease: Butterfly vertebral arch
Butterfly vertebral arch
1 0 1 0.11 0 0