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: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		55 0 11 0.11 0 0
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		35 0 9 0.11 0 0
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		67 0 12 0.11 0 0
CUI: C3278322
Disease: Cerebellar dysplasia
Cerebellar dysplasia 		15 0 7 0.10 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 16 0.10 0 0
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology 		27 0 8 0.10 0 0
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		103 0 15 0.10 0 0
CUI: C1866131
Disease: Fusion of the cerebellar hemispheres
Fusion of the cerebellar hemispheres 		6 0 6 0.10 0 0
CUI: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy 		17 0 7 0.10 0 0
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 		7 0 6 1.0E-01 0 0
CUI: C3809221
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		7 0 6 1.0E-01 0 0
CUI: C4015184
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 		7 0 6 1.0E-01 0 0
CUI: C4022771
Disease: Decreased thalamic volume
Decreased thalamic volume 		7 0 6 1.0E-01 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 17 9.9E-02 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 19 9.8E-02 0 0
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		54 0 10 9.7E-02 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 25 9.6E-02 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 8 9.5E-02 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 18 9.5E-02 0 0
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele 		33 0 8 9.5E-02 0 0
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment 		22 2 7 9.5E-02 1 6.7E-02
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		60 0 10 9.2E-02 0 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		109 0 14 9.1E-02 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 5 14 8.7E-02 1 5.6E-02
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 15 8.7E-02 0 0