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: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		8 0 1 1.2E-02 0 0
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		10 0 2 2.3E-02 0 0
CUI: C0018780
Disease: Hearing Loss, High-Frequency
Hearing Loss, High-Frequency 		1 1 1 1.3E-02 1 4.6E-03
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		39 44 4 3.5E-02 1 3.8E-03
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		21 30 1 1.0E-02 1 4.0E-03
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		15 0 1 1.1E-02 0 0
CUI: C0019572
Disease: Hirsutism
Hirsutism 		12 0 1 1.1E-02 0 0
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		3 0 1 1.3E-02 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		6 0 1 1.2E-02 0 0
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		13 17 4 4.6E-02 2 8.6E-03
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		21 52 4 4.2E-02 2 7.5E-03
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		14 0 1 1.1E-02 0 0
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		7 9 4 4.9E-02 3 1.3E-02
CUI: C0025160
Disease: Megacolon
Megacolon 		7 0 1 1.2E-02 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		17 22 2 2.2E-02 2 8.4E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 0 2 1.7E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 3 1.3E-02 0 0
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		3 13 2 2.5E-02 1 4.3E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 7 1.7E-02 3 3.8E-03
CUI: C0027092
Disease: Myopia
Myopia 		45 0 2 1.7E-02 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		11 12 6 7.2E-02 1 4.4E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 9 6.9E-02 5 1.7E-02
CUI: C0028754
Disease: Obesity
Obesity 		24 0 2 2.0E-02 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		19 34 2 2.1E-02 2 8.0E-03
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		8 11 1 1.2E-02 2 8.8E-03