Source: CLINVAR ×
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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 52 0.14 45 6.8E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 28 9.7E-02 20 4.7E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 42 0.11 28 4.3E-02
CUI: C0241240
Disease: Tall stature
Tall stature 		11 14 5 5.7E-02 3 2.9E-02
CUI: C0013595
Disease: Eczema
Eczema 		15 18 4 4.3E-02 3 2.8E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 19 5 5.4E-02 3 2.8E-02
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		21 30 3 3.0E-02 3 2.5E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 11 8.2E-02 5 2.5E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 12 9.1E-02 4 2.4E-02
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		4 4 3 3.7E-02 2 2.1E-02
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		4 5 2 2.4E-02 2 2.1E-02
CUI: C0043094
Disease: Weight Gain
Weight Gain 		4 5 2 2.4E-02 2 2.1E-02
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		3 56 2 2.4E-02 3 2.1E-02
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		3 56 2 2.4E-02 3 2.1E-02
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		3 56 2 2.4E-02 3 2.1E-02
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		3 56 2 2.4E-02 3 2.1E-02
CUI: C0426870
Disease: Large hand
Large hand 		5 7 3 3.6E-02 2 2.0E-02
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		3 58 2 2.4E-02 3 2.0E-02
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		7 8 3 3.5E-02 2 2.0E-02
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		8 8 2 2.3E-02 2 2.0E-02
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		11 13 4 4.5E-02 2 1.9E-02
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		11 13 2 2.2E-02 2 1.9E-02
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 14 4 4.3E-02 2 1.9E-02
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		22 14 4 4.0E-02 2 1.9E-02
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		1 14 1 1.2E-02 2 1.9E-02