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 1.8E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 2.4E-02 0 0
CUI: C0013595
Disease: Eczema
Eczema 		15 0 1 6.2E-02 0 0
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		4 0 1 0.20 0 0
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		15 0 1 6.2E-02 0 0
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		25 0 1 3.8E-02 0 0
CUI: C0028754
Disease: Obesity
Obesity 		24 0 1 4.0E-02 0 0
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		5 0 1 0.17 0 0
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		5 0 1 0.17 0 0
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		1 0 1 0.50 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 1 5.9E-02 0 0
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		1 0 1 0.50 0 0
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin 		6 0 1 0.14 0 0
CUI: C0264162
Disease: Camptocormia
Camptocormia 		2 0 1 0.33 0 0
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		2 0 1 0.33 0 0
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		4 0 1 0.20 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 0 1 5.2E-03 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		10 0 1 9.1E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 0 1 3.3E-03 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 0 1 2.5E-02 0 0
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		2 0 1 0.33 0 0
CUI: C1842552
Disease: Limb-girdle muscle atrophy
Limb-girdle muscle atrophy 		1 0 1 0.50 0 0
CUI: C1846288
Disease: Recurrent hypoglycemia
Recurrent hypoglycemia 		1 0 1 0.50 0 0
CUI: C1868097
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC 		2 0 1 0.33 0 0
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		5 0 1 0.17 0 0