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: C4703646
Disease: Eosinophilic infiltration of the esophagus
Eosinophilic infiltration of the esophagus 		5 0 5 0.19 0 0
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle 		13 0 6 0.18 0 0
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		20 0 7 0.17 0 0
CUI: C0242698
Disease: Ventricular Dysfunction, Left
Ventricular Dysfunction, Left 		88 0 17 0.17 0 0
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		14 0 6 0.17 0 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		14 0 6 0.17 0 0
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 		14 0 6 0.17 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		15 0 6 0.17 0 0
CUI: C0241240
Disease: Tall stature
Tall stature 		79 0 15 0.16 0 0
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		80 0 15 0.16 0 0
CUI: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy 		17 0 6 0.16 0 0
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		19 0 6 0.15 0 0
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		21 0 6 0.14 0 0
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle 		5 0 4 0.14 0 0
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		102 0 16 0.14 0 0
CUI: C1812607
Disease: Aortic aneurysm and dissection
Aortic aneurysm and dissection 		14 0 5 0.14 0 0
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		23 0 6 0.14 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 4 0.13 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 4 0.13 0 0
CUI: C4015184
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 		7 0 4 0.13 0 0
CUI: C4024905
Disease: Abnormality of the pons
Abnormality of the pons 		7 0 4 0.13 0 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		102 0 15 0.13 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		16 0 5 0.13 0 0
CUI: C4022586
Disease: Fatigable weakness of skeletal muscles
Fatigable weakness of skeletal muscles 		8 0 4 0.13 0 0
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		46 0 8 0.12 0 0