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: C1848097
Disease: Spondyloepimetaphyseal Dysplasia, X-Linked
Spondyloepimetaphyseal Dysplasia, X-Linked 		2 0 1 0.50 0 0
CUI: C3806306
Disease: Periarticular subcutaneous nodules
Periarticular subcutaneous nodules 		2 0 1 0.50 0 0
CUI: C4324406
Disease: Cerebral volume loss
Cerebral volume loss 		3 0 1 0.33 0 0
CUI: C1844925
Disease: Cervical spinal canal stenosis
Cervical spinal canal stenosis 		6 0 1 0.17 0 0
CUI: C1857485
Disease: Flat forehead
Flat forehead 		11 0 1 9.1E-02 0 0
CUI: C4021806
Disease: Prelingual sensorineural hearing impairment
Prelingual sensorineural hearing impairment 		17 0 1 5.9E-02 0 0
CUI: C4015465
Disease: Thoracic kyphoscoliosis
Thoracic kyphoscoliosis 		19 0 1 5.3E-02 0 0
CUI: C0948387
Disease: Secondary Adrenal Insufficiency
Secondary Adrenal Insufficiency 		20 0 1 5.0E-02 0 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology 		28 0 1 3.6E-02 0 0
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		29 0 1 3.4E-02 0 0
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		34 0 1 2.9E-02 0 0
CUI: C1861329
Disease: Spinal canal stenosis
Spinal canal stenosis 		35 0 1 2.9E-02 0 0
CUI: C0010093
Disease: Corpus Luteum Cyst
Corpus Luteum Cyst 		36 0 1 2.8E-02 0 0
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		36 0 1 2.8E-02 0 0
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		36 0 1 2.8E-02 0 0
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		36 0 1 2.8E-02 0 0
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		36 0 1 2.8E-02 0 0
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		37 0 1 2.7E-02 0 0
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		37 0 1 2.7E-02 0 0
CUI: C0271708
Disease: Fasting Hypoglycemia
Fasting Hypoglycemia 		39 0 1 2.6E-02 0 0
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 1 2.5E-02 0 0
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		48 0 1 2.1E-02 0 0
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia 		49 0 1 2.0E-02 0 0
CUI: C0973461
Disease: Dysphasia
Dysphasia 		63 0 1 1.6E-02 0 0
CUI: C0029927
Disease: Ovarian Cysts
Ovarian Cysts 		74 0 1 1.4E-02 0 0