Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Medulloblastoma with extensive nodularity
1 0 1 1.00 0 0
CUI: C4540342
Disease: JOUBERT SYNDROME 32
JOUBERT SYNDROME 32
1 0 1 1.00 0 0
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
3 117 1 0.33 1 8.5E-03
CUI: C0149951
Disease: Ovarian Fibromata
Ovarian Fibromata
3 0 1 0.33 0 0
CUI: C1096654
Disease: Cardiac fibroma
Cardiac fibroma
3 0 1 0.33 0 0
CUI: C1708604
Disease: Keratocystic Odontogenic Tumor
Keratocystic Odontogenic Tumor
3 0 1 0.33 0 0
CUI: C1862304
Disease: Hamartomatous polyp of stomach
Hamartomatous polyp of stomach
3 0 1 0.33 0 0
CUI: C1866959
Disease: Sella Turcica, Bridged
Sella Turcica, Bridged
3 0 1 0.33 0 0
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
3 0 1 0.33 0 0
Irregular ossification of hand bones
3 0 1 0.33 0 0
CUI: C0013456
Disease: Earache
Earache
4 0 1 0.25 0 0
CUI: C0155285
Disease: Orbital cyst
Orbital cyst
4 0 1 0.25 0 0
CUI: C0347515
Disease: Spinal Meningioma
Spinal Meningioma
4 0 1 0.25 0 0
CUI: C0423776
Disease: Palmar pit
Palmar pit
4 0 1 0.25 0 0
CUI: C1334957
Disease: Neoplasm of the posterior pituitary
Neoplasm of the posterior pituitary
4 0 1 0.25 0 0
CUI: C1852301
Disease: Plantar pits
Plantar pits
4 0 1 0.25 0 0
CUI: C1859436
Disease: Weak extraocular muscles
Weak extraocular muscles
4 0 1 0.25 0 0
Focal T2 hypointense thalamic lesion
4 0 1 0.25 0 0
Abnormality of central sensory function
4 0 1 0.25 0 0
CUI: C4073063
Disease: Abnormal kinetic perimetry test
Abnormal kinetic perimetry test
4 0 1 0.25 0 0
CUI: C4552960
Disease: Ear Pain, CTCAE
Ear Pain, CTCAE
4 0 1 0.25 0 0
CUI: C0040997
Disease: Trigeminal Neuralgia
Trigeminal Neuralgia
5 0 1 0.20 0 0
CUI: C0220998
Disease: Hypothalamic hypothyroidism
Hypothalamic hypothyroidism
5 0 1 0.20 0 0
CUI: C0278152
Disease: Hemifacial Spasm
Hemifacial Spasm
5 0 1 0.20 0 0
Decreased circulating follicle stimulating hormone level
5 0 1 0.20 0 0