Source: ALL
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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		1183 839 16 1.3E-02 1 1.2E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 33 1.5E-02 1 1.8E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 3 1.1E-02 2 4.9E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 20 1.6E-02 1 2.9E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 13 1.3E-02 2 1.2E-02
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		28 128 1 1.1E-02 1 7.7E-03
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		508 121 12 2.2E-02 2 1.6E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 27 5.7E-02 1 8.2E-03
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		557 91 3 4.9E-03 2 2.2E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 11 1.4E-02 2 2.2E-02
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 84 8 2.4E-02 1 1.2E-02
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		4 78 1 1.5E-02 1 1.3E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 39 4.4E-02 1 1.4E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 64 17 3.4E-02 1 1.5E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 15 2.3E-02 1 1.7E-02
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		48 55 1 9.2E-03 2 3.6E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 36 7.0E-02 2 3.6E-02
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		411 50 12 2.6E-02 1 1.9E-02
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		182 46 8 3.4E-02 2 4.3E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 34 16 5.1E-02 3 8.8E-02
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		297 33 2 5.6E-03 2 5.9E-02
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		156 32 18 9.0E-02 1 2.9E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 11 4.0E-02 1 3.4E-02
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		1 27 1 1.6E-02 1 3.4E-02
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		320 25 22 6.1E-02 2 7.7E-02