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: C0410787
Disease: Hereditary Connective Tissue Disorder
Hereditary Connective Tissue Disorder 		9 0 4 0.33 0 0
CUI: C0268345
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 		2 0 2 0.29 0 0
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		2 0 2 0.29 0 0
CUI: C1833753
Disease: Biconcave flattened vertebrae
Biconcave flattened vertebrae 		2 0 2 0.29 0 0
CUI: C1833754
Disease: Femoral bowing present at birth, straightening with time
Femoral bowing present at birth, straightening with time 		2 0 2 0.29 0 0
CUI: C1851801
Disease: EDS VIIB
EDS VIIB 		2 0 2 0.29 0 0
CUI: C1859443
Disease: Severe generalized osteoporosis
Severe generalized osteoporosis 		2 0 2 0.29 0 0
CUI: C4021629
Disease: Absent ossification of calvaria
Absent ossification of calvaria 		2 0 2 0.29 0 0
CUI: C0152093
Disease: Hypermobility syndrome
Hypermobility syndrome 		3 0 2 0.25 0 0
CUI: C0268337
Disease: Ehlers-Danlos syndrome, type 3 (disorder)
Ehlers-Danlos syndrome, type 3 (disorder) 		3 3 2 0.25 1 2.5E-03
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		3 0 2 0.25 0 0
CUI: C1850178
Disease: Bowing of limbs due to multiple fractures
Bowing of limbs due to multiple fractures 		4 0 2 0.22 0 0
CUI: C4025813
Disease: Abnormality of subcutaneous fat tissue
Abnormality of subcutaneous fat tissue 		4 0 2 0.22 0 0
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		4 0 2 0.22 0 0
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		10 0 3 0.21 0 0
CUI: C0012819
Disease: Diverticular disease of colon
Diverticular disease of colon 		5 0 2 0.20 0 0
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		5 0 2 0.20 0 0
CUI: C1851828
Disease: Cigarette-paper scars
Cigarette-paper scars 		5 0 2 0.20 0 0
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		5 0 2 0.20 0 0
CUI: C1970497
Disease: Crumpled long bones
Crumpled long bones 		6 0 2 0.18 0 0
CUI: C4021630
Disease: Broad long bones
Broad long bones 		6 0 2 0.18 0 0
CUI: C0426824
Disease: Beading of ribs
Beading of ribs 		7 0 2 0.17 0 0
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		8 0 2 0.15 0 0
CUI: C1835121
Disease: Premature osteoarthritis
Premature osteoarthritis 		8 0 2 0.15 0 0
CUI: C0007871
Disease: Uterine Cervical Incompetence
Uterine Cervical Incompetence 		1 0 1 0.14 0 0