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: C1862304
Disease: Hamartomatous polyp of stomach
Hamartomatous polyp of stomach
3 0 3 0.75 0 0
CUI: C1866959
Disease: Sella Turcica, Bridged
Sella Turcica, Bridged
3 0 3 0.75 0 0
Irregular ossification of hand bones
3 0 3 0.75 0 0
CUI: C0423776
Disease: Palmar pit
Palmar pit
4 0 3 0.60 0 0
CUI: C1096654
Disease: Cardiac fibroma
Cardiac fibroma
4 0 3 0.60 0 0
CUI: C1852301
Disease: Plantar pits
Plantar pits
4 0 3 0.60 0 0
CUI: C0149951
Disease: Ovarian Fibromata
Ovarian Fibromata
6 0 3 0.43 0 0
CUI: C1332852
Disease: Cardiac rhabdomyoma
Cardiac rhabdomyoma
6 0 3 0.43 0 0
CUI: C1397139
Disease: Calcification of falx cerebri
Calcification of falx cerebri
6 0 3 0.43 0 0
CUI: C0334482
Disease: Fetal rhabdomyoma
Fetal rhabdomyoma
3 0 2 0.40 0 0
CUI: C1857126
Disease: Parietal bossing
Parietal bossing
7 0 3 0.38 0 0
CUI: C1862313
Disease: Short distal phalanx of the thumb
Short distal phalanx of the thumb
7 0 3 0.38 0 0
Localized Primitive Neuroectodermal Tumor
4 0 2 0.33 0 0
CUI: C1695776
Disease: Vertebral wedging
Vertebral wedging
8 0 3 0.33 0 0
CUI: C4721788
Disease: Bifid ribs
Bifid ribs
9 0 3 0.30 0 0
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC
5 0 2 0.29 0 0
Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma
1 0 1 0.25 0 0
CUI: C1368295
Disease: Malignant basal cell tumor
Malignant basal cell tumor
1 0 1 0.25 0 0
CUI: C1834038
Disease: Schilbach-Rott Syndrome
Schilbach-Rott Syndrome
1 0 1 0.25 0 0
Fusion of the left and right thalami
1 0 1 0.25 0 0
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7
1 0 1 0.25 0 0
Anomalous branches of internal carotid artery
1 0 1 0.25 0 0
RENAL HYPOPLASIA, ISOLATED (disorder)
1 0 1 0.25 0 0
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion
1 0 1 0.25 0 0
CUI: C3805371
Disease: Pits of palms and soles
Pits of palms and soles
1 0 1 0.25 0 0