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: C1850303
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 		4 0 3 0.20 0 0
CUI: C1862481
Disease: Limited wrist extension
Limited wrist extension 		5 0 3 0.19 0 0
CUI: C1864715
Disease: Thenar muscle atrophy
Thenar muscle atrophy 		7 0 3 0.17 0 0
CUI: C4022580
Disease: Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors 		2 0 2 0.14 0 0
CUI: C0151583
Disease: Abnormality of the cerebrospinal fluid
Abnormality of the cerebrospinal fluid 		3 0 2 0.13 0 0
CUI: C1832276
Disease: Thenar muscle weakness
Thenar muscle weakness 		3 0 2 0.13 0 0
CUI: C1832277
Disease: First dorsal interossei muscle weakness
First dorsal interossei muscle weakness 		3 0 2 0.13 0 0
CUI: C1832278
Disease: First dorsal interossei muscle atrophy
First dorsal interossei muscle atrophy 		3 0 2 0.13 0 0
CUI: C1832279
Disease: Cold-induced hand cramps
Cold-induced hand cramps 		3 0 2 0.13 0 0
CUI: C1864238
Disease: Prolonged miniature endplate currents
Prolonged miniature endplate currents 		3 0 2 0.13 0 0
CUI: C4021031
Disease: Abnormal motor nerve conduction velocity
Abnormal motor nerve conduction velocity 		3 0 2 0.13 0 0
CUI: C2931928
Disease: Mitochondrial cytopathy
Mitochondrial cytopathy 		4 0 2 0.12 0 0
CUI: C4022576
Disease: Slow pupillary light response
Slow pupillary light response 		4 0 2 0.12 0 0
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		6 38 2 0.11 1 2.6E-02
CUI: C4476759
Disease: Stooped posture
Stooped posture 		6 0 2 0.11 0 0
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		7 0 2 0.11 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 4 0.11 0 0
CUI: C4025785
Disease: Abnormality of the foot musculature
Abnormality of the foot musculature 		8 0 2 1.0E-01 0 0
CUI: C0241700
Disease: Voice Fatigue
Voice Fatigue 		20 0 3 9.7E-02 0 0
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		9 0 2 9.5E-02 0 0
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		33 0 4 9.3E-02 0 0
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		33 0 4 9.3E-02 0 0
CUI: C0239830
Disease: Hand muscle atrophy
Hand muscle atrophy 		10 0 2 9.1E-02 0 0
CUI: C4025676
Disease: Abnormality of the knee
Abnormality of the knee 		10 0 2 9.1E-02 0 0
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy 		23 0 3 8.8E-02 0 0