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: C0342396
Disease: Idiopathic hypopituitarism
Idiopathic hypopituitarism
5 0 3 0.21 0 0
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst
11 0 4 0.21 0 0
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia
11 0 4 0.21 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
6 0 3 0.20 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
6 0 3 0.20 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
6 0 3 0.20 0 0
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease
19 0 5 0.19 0 0
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle
13 0 4 0.19 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
7 0 3 0.19 0 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst
14 0 4 0.18 0 0
Walker-Warburg congenital muscular dystrophy
21 0 5 0.18 0 0
CUI: C3278322
Disease: Cerebellar dysplasia
Cerebellar dysplasia
15 0 4 0.17 0 0
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment
22 0 5 0.17 0 0
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly
23 0 5 0.17 0 0
CUI: C1846674
Disease: Thigh hypertrophy
Thigh hypertrophy
2 0 2 0.17 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level
16 0 4 0.17 0 0
Pituitary stalk interruption syndrome
16 0 4 0.17 0 0
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
24 0 5 0.16 0 0
CUI: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy
17 0 4 0.16 0 0
CUI: C2875316
Disease: Myotubular (centronuclear) myopathy
Myotubular (centronuclear) myopathy
10 0 3 0.16 0 0
Aplasia/Hypoplasia involving the skeletal musculature
19 0 4 0.15 0 0
Abnormal lactate dehydrogenase activity
19 0 4 0.15 0 0
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
35 0 6 0.15 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness
28 0 5 0.14 0 0
CUI: C1879312
Disease: Agyria
Agyria
20 0 4 0.14 0 0