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: C1955871
Disease: Cobblestone Complex
Cobblestone Complex
1 0 1 6.7E-02 0 0
POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE
1 2 1 6.7E-02 1 3.7E-02
CUI: C4084843
Disease: JOUBERT SYNDROME 26
JOUBERT SYNDROME 26
1 0 1 6.7E-02 0 0
CUI: C4476941
Disease: Impaired toileting ability
Impaired toileting ability
1 1 1 6.7E-02 1 3.8E-02
CUI: C0266559
Disease: Persistent primary vitreous
Persistent primary vitreous
2 0 1 6.2E-02 0 0
CUI: C1851406
Disease: Peripheral retinal avascularization
Peripheral retinal avascularization
2 0 1 6.2E-02 0 0
EXUDATIVE VITREORETINOPATHY, DIGENIC
2 0 1 6.2E-02 0 0
CUI: C0344550
Disease: Congenital retinal fold
Congenital retinal fold
3 0 1 5.9E-02 0 0
CUI: C0860158
Disease: Leydig Cell Hypoplasia
Leydig Cell Hypoplasia
3 0 1 5.9E-02 0 0
CUI: C0004608
Disease: Retinopathy background
Retinopathy background
4 0 1 5.6E-02 0 0
CUI: C0154828
Disease: Traction detachment of retina
Traction detachment of retina
4 0 1 5.6E-02 0 0
CUI: C1384582
Disease: Primary testicular failure
Primary testicular failure
4 0 1 5.6E-02 0 0
CUI: C3279674
Disease: Frontoparietal polymicrogyria
Frontoparietal polymicrogyria
4 0 1 5.6E-02 0 0
CUI: C0240897
Disease: Retinal exudates
Retinal exudates
5 0 1 5.3E-02 0 0
CUI: C1855350
Disease: Inferior vermis hypoplasia
Inferior vermis hypoplasia
5 0 1 5.3E-02 0 0
CUI: C3279675
Disease: Perisylvian polymicrogyria
Perisylvian polymicrogyria
5 0 1 5.3E-02 0 0
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis
6 0 1 5.0E-02 0 0
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1
6 0 1 5.0E-02 0 0
Generalized weakness of limb muscles
6 0 1 5.0E-02 0 0
CUI: C4072980
Disease: Exudative vitreoretinopathy
Exudative vitreoretinopathy
6 0 1 5.0E-02 0 0
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
7 0 1 4.8E-02 0 0
CUI: C4749304
Disease: Monosomy 13q14 syndrome
Monosomy 13q14 syndrome
7 0 1 4.8E-02 0 0
CUI: C4022908
Disease: Cerebral white matter hypoplasia
Cerebral white matter hypoplasia
8 3 1 4.5E-02 1 3.6E-02
Choroidal and/or chorioretinal disorder
9 0 1 4.3E-02 0 0
CUI: C0423361
Disease: Posterior Vitreous Detachment
Posterior Vitreous Detachment
9 0 1 4.3E-02 0 0