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: C0730309
Disease: Inherited optic neuropathy
Inherited optic neuropathy 		1 0 1 1.00 0 0
CUI: C1735375
Disease: Progressive optic neuropathy
Progressive optic neuropathy 		1 0 1 1.00 0 0
CUI: C1852267
Disease: OPTIC ATROPHY 1 AND DEAFNESS
OPTIC ATROPHY 1 AND DEAFNESS 		1 0 1 1.00 0 0
CUI: C1859524
Disease: Adductor longus contractures
Adductor longus contractures 		1 0 1 1.00 0 0
CUI: C4025834
Disease: Abnormal amplitude of pattern reversal visual evoked potentials
Abnormal amplitude of pattern reversal visual evoked potentials 		1 0 1 1.00 0 0
CUI: C4225163
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) 		1 0 1 1.00 0 0
CUI: C0221061
Disease: Behr syndrome
Behr syndrome 		2 0 1 0.50 0 0
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		2 0 1 0.50 0 0
CUI: C1847730
Disease: GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding)
GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding) 		2 0 1 0.50 0 0
CUI: C3888962
Disease: POLG mutation
POLG mutation 		3 0 1 0.33 0 0
CUI: C0029125
Disease: Optic Atrophies, Hereditary
Optic Atrophies, Hereditary 		4 0 1 0.25 0 0
CUI: C0344299
Disease: Temporal pallor of optic disc
Temporal pallor of optic disc 		5 0 1 0.20 0 0
CUI: C3554721
Disease: Morning glory anomaly
Morning glory anomaly 		5 0 1 0.20 0 0
CUI: C0410266
Disease: Contracture of hamstring(s)
Contracture of hamstring(s) 		6 0 1 0.17 0 0
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		6 0 1 0.17 0 0
CUI: C0003463
Disease: Anus Neoplasms
Anus Neoplasms 		8 0 1 0.12 0 0
CUI: C0015398
Disease: Eye Diseases, Hereditary
Eye Diseases, Hereditary 		9 0 1 0.11 0 0
CUI: C0271215
Disease: Blindness, Legal
Blindness, Legal 		10 0 1 1.0E-01 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		11 0 1 9.1E-02 0 0
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		11 0 1 9.1E-02 0 0
CUI: C1955603
Disease: Deaf-Blind Disorders
Deaf-Blind Disorders 		11 0 1 9.1E-02 0 0
CUI: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal 		12 0 1 8.3E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 1 8.3E-02 0 0
CUI: C1691779
Disease: Sensory hearing loss
Sensory hearing loss 		14 0 1 7.1E-02 0 0
CUI: C3276549
Disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY 		14 0 1 7.1E-02 0 0