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: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		12 0 1 7.7E-02 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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		2 3 1 0.33 1 0.20
CUI: C0036572
Disease: Seizures
Seizures 		237 417 1 4.2E-03 1 2.4E-03
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		23 27 1 4.2E-02 1 3.4E-02
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		7 6 1 0.12 1 0.12
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		4 8 1 0.20 1 1.0E-01
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		4 126 1 0.20 1 7.8E-03
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		1 1 1 0.50 1 0.33
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		27 70 1 3.6E-02 1 1.4E-02
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: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		3 11 1 0.25 1 7.7E-02
CUI: C1843852
Disease: SPINOCEREBELLAR ATAXIA WITH EPILEPSY
SPINOCEREBELLAR ATAXIA WITH EPILEPSY 		1 2 1 0.50 1 0.25
CUI: C1856691
Disease: Impaired proprioception
Impaired proprioception 		2 3 1 0.33 1 0.20
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		2 17 1 0.33 1 5.3E-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 11 1 0.50 1 7.7E-02
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor 		6 5 1 0.14 1 0.14
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		4 78 1 0.20 1 1.3E-02
CUI: C0003635
Disease: Apraxias
Apraxias 		6 7 1 0.14 2 0.25
CUI: C0012569
Disease: Diplopia
Diplopia 		5 5 1 0.17 2 0.33
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 42 1 2.9E-02 2 4.7E-02
CUI: C0015310
Disease: Exotropia
Exotropia 		17 21 1 5.6E-02 2 9.1E-02
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis 		1 2 1 0.50 2 0.67
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		8 10 1 0.11 2 0.18