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: C0427201
Disease: Floppy Muscles
Floppy Muscles 		6 0 6 0.38 0 0
CUI: C0427202
Disease: Muscle Tone Atonic
Muscle Tone Atonic 		6 0 6 0.38 0 0
CUI: C0751330
Disease: Unilateral Hypotonia
Unilateral Hypotonia 		8 0 6 0.33 0 0
CUI: C0268345
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 		2 0 2 0.12 0 0
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		2 0 2 0.12 0 0
CUI: C1833753
Disease: Biconcave flattened vertebrae
Biconcave flattened vertebrae 		2 0 2 0.12 0 0
CUI: C1833754
Disease: Femoral bowing present at birth, straightening with time
Femoral bowing present at birth, straightening with time 		2 0 2 0.12 0 0
CUI: C1851801
Disease: EDS VIIB
EDS VIIB 		2 0 2 0.12 0 0
CUI: C1859443
Disease: Severe generalized osteoporosis
Severe generalized osteoporosis 		2 0 2 0.12 0 0
CUI: C4021629
Disease: Absent ossification of calvaria
Absent ossification of calvaria 		2 0 2 0.12 0 0
CUI: C4281771
Disease: Thin eyebrow
Thin eyebrow 		12 0 3 0.12 0 0
CUI: C1856186
Disease: Deafness enamel hypoplasia nail defects
Deafness enamel hypoplasia nail defects 		3 0 2 0.12 0 0
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		3 0 2 0.12 0 0
CUI: C0008767
Disease: Cicatrization
Cicatrization 		13 0 3 0.12 0 0
CUI: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		23 0 4 0.11 0 0
CUI: C1850178
Disease: Bowing of limbs due to multiple fractures
Bowing of limbs due to multiple fractures 		4 0 2 0.11 0 0
CUI: C4025813
Disease: Abnormality of subcutaneous fat tissue
Abnormality of subcutaneous fat tissue 		4 0 2 0.11 0 0
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		4 0 2 0.11 0 0
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		5 0 2 0.11 0 0
CUI: C0241181
Disease: Fragile skin
Fragile skin 		26 0 4 0.11 0 0
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		5 0 2 0.11 0 0
CUI: C1970497
Disease: Crumpled long bones
Crumpled long bones 		6 0 2 1.0E-01 0 0
CUI: C4021630
Disease: Broad long bones
Broad long bones 		6 0 2 1.0E-01 0 0
CUI: C4025712
Disease: Abnormality of the cerebellar vermis
Abnormality of the cerebellar vermis 		6 0 2 1.0E-01 0 0
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		6 0 2 1.0E-01 0 0