Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1
3 3 3 0.60 1 0.11
CUI: C1862314
Disease: Basal cell nevus
Basal cell nevus
2 0 2 0.40 0 0
CUI: C1862304
Disease: Hamartomatous polyp of stomach
Hamartomatous polyp of stomach
3 0 2 0.33 0 0
CUI: C1866959
Disease: Sella Turcica, Bridged
Sella Turcica, Bridged
3 0 2 0.33 0 0
Irregular ossification of hand bones
3 0 2 0.33 0 0
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1
3 0 2 0.33 0 0
CUI: C0155285
Disease: Orbital cyst
Orbital cyst
4 0 2 0.29 0 0
CUI: C0423776
Disease: Palmar pit
Palmar pit
4 0 2 0.29 0 0
CUI: C1096654
Disease: Cardiac fibroma
Cardiac fibroma
4 0 2 0.29 0 0
Localized Primitive Neuroectodermal Tumor
4 0 2 0.29 0 0
CUI: C1852301
Disease: Plantar pits
Plantar pits
4 0 2 0.29 0 0
CUI: C0149951
Disease: Ovarian Fibromata
Ovarian Fibromata
6 0 2 0.22 0 0
CUI: C1332852
Disease: Cardiac rhabdomyoma
Cardiac rhabdomyoma
6 0 2 0.22 0 0
CUI: C1397139
Disease: Calcification of falx cerebri
Calcification of falx cerebri
6 0 2 0.22 0 0
CUI: C0024954
Disease: Maxillary Neoplasms
Maxillary Neoplasms
1 0 1 0.20 0 0
CUI: C0205766
Disease: Myxofibroma
Myxofibroma
7 0 2 0.20 0 0
CUI: C0344535
Disease: Congenital corneal opacity
Congenital corneal opacity
1 0 1 0.20 0 0
CUI: C0575518
Disease: Hypertrophy of upper limb
Hypertrophy of upper limb
1 0 1 0.20 0 0
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome
1 0 1 0.20 0 0
Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma
1 0 1 0.20 0 0
CUI: C1368295
Disease: Malignant basal cell tumor
Malignant basal cell tumor
1 0 1 0.20 0 0
CUI: C1834038
Disease: Schilbach-Rott Syndrome
Schilbach-Rott Syndrome
1 0 1 0.20 0 0
Fusion of the left and right thalami
1 0 1 0.20 0 0
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7
1 0 1 0.20 0 0
Anomalous branches of internal carotid artery
1 0 1 0.20 0 0