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: C0022602
Disease: Actinic keratosis
Actinic keratosis 		1 2 1 0.50 2 0.67
CUI: C0036508
Disease: Seborrheic dermatitis
Seborrheic dermatitis 		1 2 1 0.50 2 0.67
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		1 0 1 0.50 0 0
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		1 0 1 0.50 0 0
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		1 1 1 0.50 1 0.33
CUI: C0271390
Disease: Nystagmus, End-Position
Nystagmus, End-Position 		1 2 1 0.50 2 0.67
CUI: C0751470
Disease: Palmo-Mental Reflex
Palmo-Mental Reflex 		1 2 1 0.50 2 0.67
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		1 10 1 0.50 1 8.3E-02
CUI: C1842552
Disease: Limb-girdle muscle atrophy
Limb-girdle muscle atrophy 		1 0 1 0.50 0 0
CUI: C1843369
Disease: Vertical supranuclear gaze palsy
Vertical supranuclear gaze palsy 		1 2 1 0.50 2 0.67
CUI: C1843852
Disease: SPINOCEREBELLAR ATAXIA WITH EPILEPSY
SPINOCEREBELLAR ATAXIA WITH EPILEPSY 		1 2 1 0.50 1 0.25
CUI: C1846288
Disease: Recurrent hypoglycemia
Recurrent hypoglycemia 		1 0 1 0.50 0 0
CUI: C4025751
Disease: Abnormality of the pancreas
Abnormality of the pancreas 		1 0 1 0.50 0 0
CUI: C4073164
Disease: Decreased urinary copper concentration
Decreased urinary copper concentration 		1 0 1 0.50 0 0
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		1 11 1 0.50 1 7.7E-02
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		5 8 2 0.40 3 0.38
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria 		5 6 2 0.40 3 0.50
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		2 3 1 0.33 1 0.20
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: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		2 45 1 0.33 2 4.3E-02
CUI: C0271379
Disease: Convergence Insufficiency
Convergence Insufficiency 		2 4 1 0.33 2 0.40
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		2 3 1 0.33 2 0.50
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		2 0 1 0.33 0 0
CUI: C1843885
Disease: Progressive gait ataxia
Progressive gait ataxia 		2 3 1 0.33 2 0.50