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: C0003537
Disease: Aphasia
Aphasia 		86 0 16 0.11 0 0
CUI: C0018794
Disease: Heart Block
Heart Block 		58 0 13 0.11 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 19 19 0.11 1 2.2E-02
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 19 0.11 0 0
CUI: C4025821
Disease: Anterior hypopituitarism
Anterior hypopituitarism 		48 0 12 0.11 0 0
CUI: C0149793
Disease: Amaurosis Fugax
Amaurosis Fugax 		49 0 12 0.10 0 0
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		64 0 13 0.10 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 0 19 9.7E-02 0 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		103 0 16 9.7E-02 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 17 9.6E-02 0 0
CUI: C0009024
Disease: Clonus
Clonus 		60 0 12 9.5E-02 0 0
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria 		60 0 12 9.5E-02 0 0
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		84 0 14 9.5E-02 0 0
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		100 0 15 9.2E-02 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 20 8.8E-02 0 0
CUI: C1843077
Disease: Segmental peripheral demyelination/remyelination
Segmental peripheral demyelination/remyelination 		21 0 8 8.8E-02 0 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		158 0 19 8.8E-02 0 0
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		72 0 12 8.7E-02 0 0
CUI: C0001403
Disease: Addison Disease
Addison Disease 		111 0 15 8.6E-02 0 0
CUI: C0021843
Disease: Intestinal Obstruction
Intestinal Obstruction 		87 0 13 8.6E-02 0 0
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		113 0 15 8.5E-02 0 0
CUI: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal 		12 0 7 8.4E-02 0 0
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		12 0 7 8.4E-02 0 0
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		12 0 7 8.4E-02 0 0
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts 		12 0 7 8.4E-02 0 0