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 0.50 0 0
CUI: C1866959
Disease: Sella Turcica, Bridged
Sella Turcica, Bridged
3 0 3 0.50 0 0
Irregular ossification of hand bones
3 0 3 0.50 0 0
CUI: C0155285
Disease: Orbital cyst
Orbital cyst
4 0 3 0.43 0 0
CUI: C0423776
Disease: Palmar pit
Palmar pit
4 0 3 0.43 0 0
CUI: C1096654
Disease: Cardiac fibroma
Cardiac fibroma
4 0 3 0.43 0 0
CUI: C1852301
Disease: Plantar pits
Plantar pits
4 0 3 0.43 0 0
CUI: C0149951
Disease: Ovarian Fibromata
Ovarian Fibromata
6 0 3 0.33 0 0
CUI: C1332852
Disease: Cardiac rhabdomyoma
Cardiac rhabdomyoma
6 0 3 0.33 0 0
CUI: C1857126
Disease: Parietal bossing
Parietal bossing
7 0 3 0.30 0 0
CUI: C1862313
Disease: Short distal phalanx of the thumb
Short distal phalanx of the thumb
7 0 3 0.30 0 0
CUI: C0334482
Disease: Fetal rhabdomyoma
Fetal rhabdomyoma
3 0 2 0.29 0 0
CUI: C1695776
Disease: Vertebral wedging
Vertebral wedging
8 0 3 0.27 0 0
Localized Primitive Neuroectodermal Tumor
4 0 2 0.25 0 0
CUI: C4721788
Disease: Bifid ribs
Bifid ribs
9 0 3 0.25 0 0
CUI: C1837483
Disease: Posterior rib cupping
Posterior rib cupping
5 0 2 0.22 0 0
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC
5 0 2 0.22 0 0
CUI: C0345397
Disease: Accessory rib
Accessory rib
12 0 3 0.20 0 0
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome
12 0 3 0.20 0 0
CUI: C1840309
Disease: Short 4th metacarpal
Short 4th metacarpal
14 0 3 0.18 0 0
CUI: C1859680
Disease: Broad face
Broad face
14 0 3 0.18 0 0
CUI: C4021655
Disease: Abnormality of the sense of smell
Abnormality of the sense of smell
14 0 3 0.18 0 0
Idiopathic arterial calcification of infancy
1 0 1 0.17 0 0
CUI: C1334439
Disease: adenoid cystic carcinoma of lung
adenoid cystic carcinoma of lung
1 0 1 0.17 0 0
Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma
1 0 1 0.17 0 0