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: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		4 37 4 0.80 3 2.6E-02
CUI: C0220679
Disease: Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified 		3 0 3 0.60 0 0
CUI: C4021962
Disease: Genital hernia
Genital hernia 		3 0 3 0.60 0 0
CUI: C0268345
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 		2 0 2 0.40 0 0
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		2 51 2 0.40 3 2.3E-02
CUI: C1833753
Disease: Biconcave flattened vertebrae
Biconcave flattened vertebrae 		2 0 2 0.40 0 0
CUI: C1833754
Disease: Femoral bowing present at birth, straightening with time
Femoral bowing present at birth, straightening with time 		2 0 2 0.40 0 0
CUI: C1851801
Disease: EDS VIIB
EDS VIIB 		2 7 2 0.40 5 6.0E-02
CUI: C1859443
Disease: Severe generalized osteoporosis
Severe generalized osteoporosis 		2 0 2 0.40 0 0
CUI: C4021629
Disease: Absent ossification of calvaria
Absent ossification of calvaria 		2 0 2 0.40 0 0
CUI: C4225429
Disease: Ehlers-Danlos syndrome classic type
Ehlers-Danlos syndrome classic type 		2 0 2 0.40 0 0
CUI: C4293700
Disease: Subcutaneous spheroids
Subcutaneous spheroids 		2 0 2 0.40 0 0
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		3 0 2 0.33 0 0
CUI: C0432363
Disease: Shagreen patch
Shagreen patch 		8 0 3 0.30 0 0
CUI: C0039516
Disease: Tennis Elbow
Tennis Elbow 		4 0 2 0.29 0 0
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse 		13 0 4 0.29 0 0
CUI: C0268335
Disease: Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 1 		4 0 2 0.29 0 0
CUI: C0268336
Disease: Ehlers-Danlos syndrome type 2
Ehlers-Danlos syndrome type 2 		4 0 2 0.29 0 0
CUI: C1850178
Disease: Bowing of limbs due to multiple fractures
Bowing of limbs due to multiple fractures 		4 0 2 0.29 0 0
CUI: C4025813
Disease: Abnormality of subcutaneous fat tissue
Abnormality of subcutaneous fat tissue 		4 0 2 0.29 0 0
CUI: C0410787
Disease: Hereditary Connective Tissue Disorder
Hereditary Connective Tissue Disorder 		9 0 3 0.27 0 0
CUI: C0575484
Disease: Long thorax
Long thorax 		9 0 3 0.27 0 0
CUI: C3887531
Disease: Keratoglobus
Keratoglobus 		9 0 3 0.27 0 0
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		5 10 2 0.25 1 1.1E-02
CUI: C1844597
Disease: Molluscoid pseudotumors
Molluscoid pseudotumors 		5 0 2 0.25 0 0