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: C0345002
Disease: Quadricuspid aortic valve
Quadricuspid aortic valve
1 0 1 0.33 0 0
CUI: C1275239
Disease: Dermatomyofibroma
Dermatomyofibroma
1 0 1 0.33 0 0
CUI: C1394142
Disease: Cortical hyperostosis
Cortical hyperostosis
1 0 1 0.33 0 0
Periosteal thickening of long tubular bones
1 0 1 0.33 0 0
CUI: C1852924
Disease: OI-EDS Combined Syndrome
OI-EDS Combined Syndrome
1 0 1 0.33 0 0
CUI: C1859069
Disease: Brittle Bone Disorder
Brittle Bone Disorder
1 0 1 0.33 0 0
CUI: C4014831
Disease: VESICOURETERAL REFLUX 8
VESICOURETERAL REFLUX 8
1 0 1 0.33 0 0
OSTEOGENESIS IMPERFECTA, TYPE III/IV
1 0 1 0.33 0 0
CUI: C4015949
Disease: OSTEOGENESIS IMPERFECTA, TYPE IIC
OSTEOGENESIS IMPERFECTA, TYPE IIC
1 0 1 0.33 0 0
OSTEOGENESIS IMPERFECTA, TYPE I, MILD
1 0 1 0.33 0 0
BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS
1 0 1 0.33 0 0
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 1
1 0 1 0.33 0 0
CUI: C0011330
Disease: Dental Calculus
Dental Calculus
2 0 1 0.25 0 0
Bilateral congenital dislocation of hip
2 0 1 0.25 0 0
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
7 0 2 0.25 0 0
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
2 0 1 0.25 0 0
Osteogenesis imperfecta, recessive perinatal lethal
2 0 1 0.25 0 0
Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)
2 0 1 0.25 0 0
CUI: C0426317
Disease: Genitourinary symptoms
Genitourinary symptoms
2 0 1 0.25 0 0
Conventional Dermatofibrosarcoma Protuberans
2 0 1 0.25 0 0
CUI: C1833753
Disease: Biconcave flattened vertebrae
Biconcave flattened vertebrae
2 0 1 0.25 0 0
Femoral bowing present at birth, straightening with time
2 0 1 0.25 0 0
Ehlers-Danlos syndrome caused by tenascin-X deficiency
2 0 1 0.25 0 0
CUI: C1851801
Disease: EDS VIIB
EDS VIIB
2 0 1 0.25 0 0
CUI: C1859443
Disease: Severe generalized osteoporosis
Severe generalized osteoporosis
2 0 1 0.25 0 0