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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.7E-02 0 0
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: 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: 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: C0028754
Disease: Obesity
Obesity 		24 0 1 3.3E-02 0 0
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
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		1 0 1 0.14 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 1 4.5E-02 0 0
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		16 0 1 4.5E-02 0 0
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		1 0 1 0.14 0 0
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin 		6 0 1 8.3E-02 0 0
CUI: C0264162
Disease: Camptocormia
Camptocormia 		2 0 1 0.12 0 0
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		2 0 1 0.12 0 0
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		2 0 2 0.29 0 0
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		4 0 1 1.0E-01 0 0
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		2 0 1 0.12 0 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		13 0 1 5.3E-02 0 0
CUI: C0456070
Disease: Growth delay
Growth delay 		31 0 1 2.7E-02 0 0