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: C0268356
Disease: Osteogenesis imperfecta with blue sclerae AND normal teeth
Osteogenesis imperfecta with blue sclerae AND normal teeth 		1 0 1 1.00 0 0
CUI: C1857034
Disease: Ehlers-Danlos syndrome, cardiac valvular form
Ehlers-Danlos syndrome, cardiac valvular form 		1 0 1 1.00 0 0
CUI: C4310978
Disease: EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA CROSSOVER SYNDROME
EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA CROSSOVER SYNDROME 		1 0 1 1.00 0 0
CUI: C0268345
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 		2 0 1 0.50 0 0
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		2 51 1 0.50 3 5.9E-02
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		2 0 1 0.50 0 0
CUI: C1833753
Disease: Biconcave flattened vertebrae
Biconcave flattened vertebrae 		2 0 1 0.50 0 0
CUI: C1833754
Disease: Femoral bowing present at birth, straightening with time
Femoral bowing present at birth, straightening with time 		2 0 1 0.50 0 0
CUI: C1851801
Disease: EDS VIIB
EDS VIIB 		2 7 1 0.50 3 0.43
CUI: C1859443
Disease: Severe generalized osteoporosis
Severe generalized osteoporosis 		2 0 1 0.50 0 0
CUI: C4021629
Disease: Absent ossification of calvaria
Absent ossification of calvaria 		2 0 1 0.50 0 0
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		3 0 1 0.33 0 0
CUI: C0263664
Disease: Generalized morphea
Generalized morphea 		3 0 1 0.33 0 0
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		3 0 1 0.33 0 0
CUI: C1850178
Disease: Bowing of limbs due to multiple fractures
Bowing of limbs due to multiple fractures 		4 0 1 0.25 0 0
CUI: C4025813
Disease: Abnormality of subcutaneous fat tissue
Abnormality of subcutaneous fat tissue 		4 0 1 0.25 0 0
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		4 0 1 0.25 0 0
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		5 0 1 0.20 0 0
CUI: C0036310
Disease: Scheuermann's Disease
Scheuermann's Disease 		5 0 1 0.20 0 0
CUI: C2700425
Disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		5 0 1 0.20 0 0
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		5 81 1 0.20 3 3.7E-02
CUI: C1970497
Disease: Crumpled long bones
Crumpled long bones 		6 0 1 0.17 0 0
CUI: C4021630
Disease: Broad long bones
Broad long bones 		6 0 1 0.17 0 0
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		7 0 1 0.14 0 0
CUI: C0426824
Disease: Beading of ribs
Beading of ribs 		7 0 1 0.14 0 0