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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 1 3.9E-03 1 2.0E-03
CUI: C0004096
Disease: Asthma
Asthma 		18 19 2 5.1E-02 1 5.7E-03
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 0 2 5.6E-02 0 0
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		2 1 2 8.7E-02 1 6.4E-03
CUI: C0005754
Disease: Congenital blindness
Congenital blindness 		2 0 1 4.2E-02 0 0
CUI: C0008732
Disease: Chylous Ascites
Chylous Ascites 		1 0 1 4.3E-02 0 0
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		6 0 1 3.6E-02 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		6 0 2 7.4E-02 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		32 36 2 3.8E-02 1 5.2E-03
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		26 35 1 2.1E-02 1 5.2E-03
CUI: C0018780
Disease: Hearing Loss, High-Frequency
Hearing Loss, High-Frequency 		1 1 1 4.3E-02 1 6.4E-03
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		21 30 1 2.3E-02 1 5.4E-03
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		25 28 1 2.1E-02 1 5.4E-03
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		6 6 3 0.12 2 1.2E-02
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		13 17 5 0.16 4 2.4E-02
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		21 52 6 0.16 1 4.8E-03
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		7 9 1 3.4E-02 1 6.1E-03
CUI: C0025160
Disease: Megacolon
Megacolon 		7 0 1 3.4E-02 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 0 2 3.3E-02 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 1 1.0E-02 1 4.0E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 5 1.4E-02 4 5.5E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		37 63 2 3.4E-02 1 4.6E-03
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		11 12 4 0.13 4 2.4E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 3 3.7E-02 1 4.2E-03
CUI: C0028754
Disease: Obesity
Obesity 		24 42 2 4.4E-02 1 5.1E-03