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: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 0 1 1.6E-03 0 0
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		51 0 1 1.6E-03 0 0
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		51 0 1 1.6E-03 0 0
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		50 0 1 1.6E-03 0 0
CUI: C0949857
Disease: Mitochondrial Respiratory Chain Deficiencies
Mitochondrial Respiratory Chain Deficiencies 		49 0 1 1.6E-03 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 1 1.6E-03 0 0
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		48 0 1 1.6E-03 0 0
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		48 0 1 1.6E-03 0 0
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		48 0 1 1.6E-03 0 0
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		45 0 1 1.6E-03 0 0
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		45 0 1 1.6E-03 0 0
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		45 0 1 1.6E-03 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 0 1 1.6E-03 0 0
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		45 0 1 1.6E-03 0 0
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		44 0 1 1.6E-03 0 0
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		44 0 1 1.6E-03 0 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		43 0 1 1.6E-03 0 0
CUI: C0240735
Disease: Personality Change
Personality Change 		43 0 1 1.6E-03 0 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		43 0 1 1.6E-03 0 0
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		42 0 1 1.6E-03 0 0
CUI: C0202230
Disease: Thyroid stimulating hormone measurement
Thyroid stimulating hormone measurement 		42 0 1 1.6E-03 0 0
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		41 0 1 1.6E-03 0 0
CUI: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis 		41 0 1 1.6E-03 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 1 1.6E-03 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 1 1.6E-03 0 0