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: C4021174
Disease: Microtia, third degree
Microtia, third degree 		10 0 8 0.14 0 0
CUI: C3278322
Disease: Cerebellar dysplasia
Cerebellar dysplasia 		15 0 8 0.13 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 7 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 7 0.13 0 0
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		17 0 8 0.12 0 0
CUI: C2875316
Disease: Myotubular (centronuclear) myopathy
Myotubular (centronuclear) myopathy 		10 0 7 0.12 0 0
CUI: C0702139
Disease: Congenital absence of external ear
Congenital absence of external ear 		11 0 7 0.12 0 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 0 12 0.12 0 0
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		21 0 8 0.12 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 20 0.12 0 0
CUI: C0685776
Disease: Congenital absence of mandible
Congenital absence of mandible 		14 0 7 0.11 0 0
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		54 0 11 0.11 0 0
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		16 0 7 0.11 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 20 0.11 0 0
CUI: C2751052
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 		6 0 6 0.11 0 0
CUI: C3150412
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 		6 0 6 0.11 0 0
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		6 0 6 0.11 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 18 0.11 0 0
CUI: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy 		17 0 7 0.11 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 0.11 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 20 0.11 0 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		137 0 18 0.10 0 0
CUI: C1879312
Disease: Agyria
Agyria 		20 0 7 0.10 0 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		64 0 11 0.10 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 17 0.10 0 0