Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17
1 0 1 7.7E-02 0 0
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency
1 0 1 7.7E-02 0 0
CUI: C0026069
Disease: Middle Lobe Syndrome
Middle Lobe Syndrome
2 0 1 7.1E-02 0 0
CUI: C0240880
Disease: Rectoperineal fistula
Rectoperineal fistula
2 0 1 7.1E-02 0 0
CUI: C0431928
Disease: Congenital overgrowth of lower limb
Congenital overgrowth of lower limb
2 2 1 7.1E-02 1 0.20
CUI: C0541633
Disease: Nephrosis and Glomerulosclerosis
Nephrosis and Glomerulosclerosis
2 0 1 7.1E-02 0 0
CUI: C0574027
Disease: Vertebral artery aneurysm
Vertebral artery aneurysm
2 0 1 7.1E-02 0 0
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
2 0 1 7.1E-02 0 0
CUI: C1839830
Disease: Frontal hirsutism
Frontal hirsutism
2 0 1 7.1E-02 0 0
CUI: C1841648
Disease: Short mandibular rami
Short mandibular rami
2 0 1 7.1E-02 0 0
CUI: C1862689
Disease: Stahl ear
Stahl ear
2 0 1 7.1E-02 0 0
CUI: C1862698
Disease: Aplasia/Hypoplasia of the 3rd toe
Aplasia/Hypoplasia of the 3rd toe
2 0 1 7.1E-02 0 0
CUI: C1970591
Disease: Abnormal pupillary light reflex
Abnormal pupillary light reflex
2 1 1 7.1E-02 1 0.25
CUI: C2698016
Disease: Marfan Syndrome Type II
Marfan Syndrome Type II
2 0 1 7.1E-02 0 0
Hypokalemic Periodic Paralysis, Type 2
2 0 1 7.1E-02 0 0
CUI: C2930902
Disease: Bidirectional tachycardia
Bidirectional tachycardia
2 0 1 7.1E-02 0 0
CUI: C2931058
Disease: Marfan Syndrome type 2
Marfan Syndrome type 2
2 0 1 7.1E-02 0 0
CUI: C3898580
Disease: Loeys-Dietz Syndrome Type 2
Loeys-Dietz Syndrome Type 2
2 0 1 7.1E-02 0 0
CUI: C4021160
Disease: Posterior plagiocephaly
Posterior plagiocephaly
2 1 1 7.1E-02 1 0.25
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly
2 0 1 7.1E-02 0 0
CUI: C4024944
Disease: Profound static encephalopathy
Profound static encephalopathy
2 0 1 7.1E-02 0 0
CUI: C4025537
Disease: Humerus varus
Humerus varus
2 1 1 7.1E-02 1 0.25
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
2 14 1 7.1E-02 1 5.9E-02
Amphetamine or related acting sympathomimetic abuse
3 0 1 6.7E-02 0 0
CUI: C0544618
Disease: Orthostatic hypertension
Orthostatic hypertension
3 0 1 6.7E-02 0 0