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: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 95 0.13 0 0
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		136 16 74 0.12 7 1.3E-02
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 104 0.12 0 0
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		685 663 132 0.12 1 8.3E-04
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 31 67 0.12 15 2.7E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 136 0.12 3 3.4E-03
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 102 0.12 0 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		235 11 81 0.12 3 5.5E-03
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 140 0.11 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 248 0.10 0 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		549 0 99 9.9E-02 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 53 57 9.9E-02 11 1.9E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 135 9.8E-02 3 2.7E-03
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		85 65 56 9.7E-02 27 4.7E-02
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 69 9.6E-02 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 0 95 9.4E-02 0 0
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		83 109 54 9.4E-02 12 1.9E-02
CUI: C0028754
Disease: Obesity
Obesity 		2821 1111 278 9.0E-02 1 6.1E-04
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 59 9.0E-02 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 57 9.0E-02 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 52 9.0E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 221 8.9E-02 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 94 8.9E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 92 8.8E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 191 8.8E-02 1 9.1E-04