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: C0271086
Disease: Toxic maculopathy
Toxic maculopathy 		1 0 1 0.50 0 0
CUI: C1838818
Disease: MUSCLE STIFFNESS, PAINFUL
MUSCLE STIFFNESS, PAINFUL 		1 1 1 0.50 1 3.7E-02
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
RETINITIS PIGMENTOSA 19 		1 22 1 0.50 15 0.44
CUI: C1970573
Disease: MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 		1 2 1 0.50 2 7.4E-02
CUI: C4016615
Disease: CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY
CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY 		1 0 1 0.50 0 0
CUI: C4016616
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, PROXIMAL MYOPATHY, AND SUDDEN DEATH
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, PROXIMAL MYOPATHY, AND SUDDEN DEATH 		1 0 1 0.50 0 0
CUI: C4016618
Disease: NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT
NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT 		1 0 1 0.50 0 0
CUI: C4017627
Disease: DIABETES MELLITUS, NONINSULIN-DEPENDENT, MATERNALLY TRANSMITTED
DIABETES MELLITUS, NONINSULIN-DEPENDENT, MATERNALLY TRANSMITTED 		1 0 1 0.50 0 0
CUI: C4692584
Disease: MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION
MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION 		1 1 1 0.50 1 3.7E-02
CUI: C4749942
Disease: Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation 		1 0 1 0.50 0 0
CUI: C4022725
Disease: Retinal astrocytic hamartoma
Retinal astrocytic hamartoma 		2 0 1 0.33 0 0
CUI: C4293702
Disease: Foveal atrophy
Foveal atrophy 		2 0 1 0.33 0 0
CUI: C4477018
Disease: Sectoral retinitis pigmentosa
Sectoral retinitis pigmentosa 		2 1 1 0.33 1 3.7E-02
CUI: C1837670
Disease: Progressive intervertebral space narrowing
Progressive intervertebral space narrowing 		3 0 1 0.25 0 0
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		3 53 1 0.25 17 0.27
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4 		3 0 1 0.25 0 0
CUI: C1838644
Disease: Stargardt disease 3
Stargardt disease 3 		4 0 1 0.20 0 0
CUI: C2215935
Disease: Electrocardiogram atrioventricular block complete heart block
Electrocardiogram atrioventricular block complete heart block 		4 0 1 0.20 0 0
CUI: C4021559
Disease: Retinitis pigmentosa inversa
Retinitis pigmentosa inversa 		4 0 1 0.20 0 0
CUI: C0423414
Disease: Retinal flecking
Retinal flecking 		5 0 1 0.17 0 0
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
MERRF/MELAS OVERLAP SYNDROME 		5 5 1 0.17 1 3.2E-02
CUI: C4025566
Disease: Muscle abnormality related to mitochondrial dysfunction
Muscle abnormality related to mitochondrial dysfunction 		5 0 1 0.17 0 0
CUI: C4025849
Disease: Abnormal foveal morphology
Abnormal foveal morphology 		5 0 1 0.17 0 0
CUI: C4072987
Disease: Yellow/white lesions of the macula
Yellow/white lesions of the macula 		5 0 1 0.17 0 0
CUI: C4282180
Disease: Juvenile macular degeneration
Juvenile macular degeneration 		5 0 1 0.17 0 0