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: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		30 0 21 0.60 0 0
CUI: C3540662
Disease: Congenital Amaurosis of Retinal Origin
Congenital Amaurosis of Retinal Origin 		8 0 8 0.31 0 0
CUI: C1858080
Disease: Retinal Dystrophy, Early Onset Severe
Retinal Dystrophy, Early Onset Severe 		14 0 9 0.29 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 23 0.24 0 0
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		83 0 21 0.24 0 0
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		42 0 13 0.24 0 0
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		81 0 18 0.20 0 0
CUI: C0005754
Disease: Congenital blindness
Congenital blindness 		16 0 7 0.20 0 0
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		35 0 10 0.20 0 0
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		112 0 21 0.18 0 0
CUI: C1855685
Disease: Undetectable electroretinogram
Undetectable electroretinogram 		21 0 6 0.15 0 0
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		6 0 4 0.14 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 21 0.13 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 0 12 0.12 0 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		180 0 22 0.12 0 0
CUI: C4518774
Disease: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Joubert syndrome with Jeune asphyxiating thoracic dystrophy 		3 0 3 0.12 0 0
CUI: C1839025
Disease: Decreased light- and dark-adapted electroretinogram amplitude
Decreased light- and dark-adapted electroretinogram amplitude 		15 0 4 0.11 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 23 0.11 0 0
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		39 0 6 0.10 0 0
CUI: C1879328
Disease: Blindness both eyes NOS (disorder)
Blindness both eyes NOS (disorder) 		7 0 3 1.0E-01 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 10 9.7E-02 0 0
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		136 0 14 9.5E-02 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 7 9.2E-02 0 0
CUI: C1852767
Disease: Hereditary macular coloboma
Hereditary macular coloboma 		11 0 3 8.8E-02 0 0
CUI: C4021570
Disease: Undetectable light- and dark-adapted electroretinogram
Undetectable light- and dark-adapted electroretinogram 		11 0 3 8.8E-02 0 0