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: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		8 0 5 0.28 0 0
CUI: C2732374
Disease: Edema of dorsum of hand
Edema of dorsum of hand 		9 0 5 0.26 0 0
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		30 0 9 0.25 0 0
CUI: C3808039
Disease: Nemaline bodies
Nemaline bodies 		15 0 6 0.25 0 0
CUI: C1848873
Disease: Abnormality of the diaphragm
Abnormality of the diaphragm 		12 0 5 0.23 0 0
CUI: C0426824
Disease: Beading of ribs
Beading of ribs 		7 0 4 0.22 0 0
CUI: C0546125
Disease: Nemaline Myopathy, Childhood Onset
Nemaline Myopathy, Childhood Onset 		7 0 4 0.22 0 0
CUI: C0751657
Disease: Nemaline Myopathy, Autosomal Recessive
Nemaline Myopathy, Autosomal Recessive 		7 0 4 0.22 0 0
CUI: C4022585
Disease: Fatigable weakness of distal limb muscles
Fatigable weakness of distal limb muscles 		8 0 4 0.21 0 0
CUI: C4022583
Disease: Fatiguable weakness of proximal limb muscles
Fatiguable weakness of proximal limb muscles 		14 0 5 0.21 0 0
CUI: C1866021
Disease: Increased connective tissue
Increased connective tissue 		16 0 5 0.19 0 0
CUI: C1833762
Disease: Decreased calvarial ossification
Decreased calvarial ossification 		10 0 4 0.19 0 0
CUI: C1850178
Disease: Bowing of limbs due to multiple fractures
Bowing of limbs due to multiple fractures 		4 0 3 0.19 0 0
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		18 0 5 0.18 0 0
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		12 0 4 0.17 0 0
CUI: C4025729
Disease: Neuromuscular dysphagia
Neuromuscular dysphagia 		12 0 4 0.17 0 0
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		13 0 4 0.17 0 0
CUI: C1970497
Disease: Crumpled long bones
Crumpled long bones 		6 0 3 0.17 0 0
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		14 0 4 0.16 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 4 0.16 0 0
CUI: C4022591
Disease: Fatigable weakness of bulbar muscles
Fatigable weakness of bulbar muscles 		14 0 4 0.16 0 0
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		40 0 7 0.15 0 0
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		40 0 7 0.15 0 0
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy 		9 0 3 0.14 0 0
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		10 0 3 0.14 0 0