Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Pituitary Hormone Deficiency, Combined, 1
6 0 6 0.50 0 0
CUI: C4022751
Disease: Ectopic anterior pituitary gland
Ectopic anterior pituitary gland
7 0 6 0.46 0 0
Abnormality of secondary sexual hair
7 0 6 0.46 0 0
CUI: C4021249
Disease: Anterior pituitary agenesis
Anterior pituitary agenesis
8 0 6 0.43 0 0
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle
5 0 5 0.42 0 0
CUI: C4022448
Disease: Abnormal prolactin level
Abnormal prolactin level
9 0 6 0.40 0 0
CUI: C4024905
Disease: Abnormality of the pons
Abnormality of the pons
7 0 5 0.36 0 0
Fatigable weakness of skeletal muscles
8 0 5 0.33 0 0
Hypoglycosylation of alpha-dystroglycan
10 0 5 0.29 0 0
Reduced muscle fiber alpha dystroglycan
10 0 5 0.29 0 0
Fusion of the cerebellar hemispheres
6 0 4 0.29 0 0
CUI: C2750604
Disease: Median cleft lip and palate
Median cleft lip and palate
15 0 6 0.29 0 0
CUI: C4025170
Disease: Osteoporosis of vertebrae
Osteoporosis of vertebrae
15 0 6 0.29 0 0
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary
16 0 6 0.27 0 0
CUI: C4023911
Disease: Aplasia/Hypoplasia of the breasts
Aplasia/Hypoplasia of the breasts
16 0 6 0.27 0 0
CUI: C0266456
Disease: Meningoencephalocele
Meningoencephalocele
7 0 4 0.27 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
7 0 4 0.27 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
7 0 4 0.27 0 0
CUI: C4022771
Disease: Decreased thalamic volume
Decreased thalamic volume
7 0 4 0.27 0 0
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia
18 0 6 0.25 0 0
CUI: C4025669
Disease: Decreased circulating ACTH level
Decreased circulating ACTH level
18 0 6 0.25 0 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
14 0 5 0.24 0 0
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
14 0 5 0.24 0 0
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia
9 0 4 0.24 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies
15 0 5 0.23 0 0