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 2 0.50 0 0
CUI: C1866959
Disease: Sella Turcica, Bridged
Sella Turcica, Bridged
3 0 2 0.50 0 0
Irregular ossification of hand bones
3 0 2 0.50 0 0
CUI: C0155285
Disease: Orbital cyst
Orbital cyst
4 0 2 0.40 0 0
CUI: C0423776
Disease: Palmar pit
Palmar pit
4 0 2 0.40 0 0
CUI: C1096654
Disease: Cardiac fibroma
Cardiac fibroma
4 0 2 0.40 0 0
Localized Primitive Neuroectodermal Tumor
4 0 2 0.40 0 0
CUI: C1852301
Disease: Plantar pits
Plantar pits
4 0 2 0.40 0 0
Upper Extremity Deformities, Congenital
1 0 1 0.33 0 0
Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma
1 0 1 0.33 0 0
CUI: C1368295
Disease: Malignant basal cell tumor
Malignant basal cell tumor
1 0 1 0.33 0 0
CUI: C1834038
Disease: Schilbach-Rott Syndrome
Schilbach-Rott Syndrome
1 0 1 0.33 0 0
Fusion of the left and right thalami
1 0 1 0.33 0 0
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7
1 0 1 0.33 0 0
Anomalous branches of internal carotid artery
1 0 1 0.33 0 0
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion
1 0 1 0.33 0 0
CUI: C3805371
Disease: Pits of palms and soles
Pits of palms and soles
1 0 1 0.33 0 0
CUI: C4020918
Disease: Dysharmonic bone age
Dysharmonic bone age
1 0 1 0.33 0 0
Enlarged epiphyses of the proximal phalanges of the hand
1 0 1 0.33 0 0
Contracture of the distal interphalangeal joint of the fingers
1 0 1 0.33 0 0
CUI: C4025542
Disease: Humeral cortical thickening
Humeral cortical thickening
1 0 1 0.33 0 0
CUI: C4025842
Disease: Abnormal uvea morphology
Abnormal uvea morphology
1 0 1 0.33 0 0
CUI: C4476818
Disease: Nevus sebaceus
Nevus sebaceus
1 0 1 0.33 0 0
CUI: C4540342
Disease: JOUBERT SYNDROME 32
JOUBERT SYNDROME 32
1 0 1 0.33 0 0
CUI: C0149951
Disease: Ovarian Fibromata
Ovarian Fibromata
6 0 2 0.29 0 0