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: C0003079
Disease: Anisocoria
Anisocoria 		4 5 1 1.0E-01 1 1.0E-01
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.7E-02 0 0
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		2 3 1 0.12 1 0.12
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 58 1 2.0E-02 1 1.6E-02
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		24 0 1 3.3E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 2.2E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 42 4 0.11 3 6.7E-02
CUI: C0013595
Disease: Eczema
Eczema 		15 0 1 4.8E-02 0 0
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		4 0 1 1.0E-01 0 0
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		15 0 1 4.8E-02 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		26 35 2 6.5E-02 1 2.5E-02
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		39 44 1 2.2E-02 1 2.0E-02
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		8 0 1 7.1E-02 0 0
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		25 0 1 3.2E-02 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 0 1 2.2E-02 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 1 1.3E-02 1 1.0E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		12 13 1 5.6E-02 1 5.6E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 1 1.5E-02 1 1.1E-02
CUI: C0028754
Disease: Obesity
Obesity 		24 0 1 3.3E-02 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		19 34 1 4.0E-02 1 2.6E-02
CUI: C0036572
Disease: Seizures
Seizures 		237 417 1 4.1E-03 1 2.4E-03
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		34 81 2 5.1E-02 1 1.2E-02
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		5 0 1 9.1E-02 0 0
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		5 0 2 0.20 0 0
CUI: C0086543
Disease: Cataract
Cataract 		13 0 1 5.3E-02 0 0