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: C2047886
Disease: (Idiopathic) normal pressure hydrocephalus
(Idiopathic) normal pressure hydrocephalus 		14 0 1 2.6E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 1 9.1E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 1 1.8E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 1.4E-02 0 0
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom 		17 0 1 2.4E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 0 1 1.5E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 2 2.1E-03 0 0
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		5 0 2 6.9E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 0 1 1.8E-02 0 0
CUI: C3151111
Disease: Abnormal light- and dark-adapted electroretinogram
Abnormal light- and dark-adapted electroretinogram 		9 0 3 9.4E-02 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		30 0 1 1.8E-02 0 0
CUI: C4022648
Disease: Abnormal muscle fiber dystrophin expression
Abnormal muscle fiber dystrophin expression 		1 0 1 3.8E-02 0 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		35 0 1 1.7E-02 0 0
CUI: C4703439
Disease: Abnormality of fundus pigmentation
Abnormality of fundus pigmentation 		14 0 1 2.6E-02 0 0
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation 		25 0 13 0.34 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 2 1.0E-02 0 0
CUI: C4023070
Disease: Abnormality of ornithine metabolism
Abnormality of ornithine metabolism 		1 0 1 3.8E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 9 3.9E-02 0 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		56 0 5 6.5E-02 0 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		40 0 1 1.5E-02 0 0
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		26 0 1 2.0E-02 0 0
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal 		109 0 1 7.5E-03 0 0
CUI: C1456418
Disease: Absence of muscle
Absence of muscle 		12 0 1 2.7E-02 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		205 0 2 8.7E-03 0 0
CUI: C0423420
Disease: Absent foveal reflex
Absent foveal reflex 		6 0 1 3.2E-02 0 0