Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Bilateral congenital dislocation of hip
2 0 1 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
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
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
CUI: C4021629
Disease: Absent ossification of calvaria
Absent ossification of calvaria
2 0 1 0.25 0 0
CUI: C4025145
Disease: Cortical irregularity
Cortical irregularity
2 0 1 0.25 0 0
CUI: C4707450
Disease: Ring chromosome 5 syndrome
Ring chromosome 5 syndrome
2 0 1 0.25 0 0
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse
13 0 3 0.23 0 0
CUI: C4021816
Disease: Abnormality of the gingiva
Abnormality of the gingiva
13 0 3 0.23 0 0
Autoimmune Lymphoproliferative Syndrome Type 2B
14 0 3 0.21 0 0
CUI: C4021986
Disease: Hypoplasia of the ear cartilage
Hypoplasia of the ear cartilage
14 0 3 0.21 0 0
CUI: C0152093
Disease: Hypermobility syndrome
Hypermobility syndrome
3 0 1 0.20 0 0
CUI: C0338586
Disease: Vertebral Artery Dissection
Vertebral Artery Dissection
3 0 1 0.20 0 0
Hereditary Connective Tissue Disorder
9 0 2 0.20 0 0
CUI: C1845878
Disease: Irregularly spaced teeth
Irregularly spaced teeth
3 0 1 0.20 0 0
CUI: C1851835
Disease: Narrow maxilla
Narrow maxilla
3 0 1 0.20 0 0
Abnormally lax or hyperextensible skin
3 0 1 0.20 0 0
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
3 0 1 0.20 0 0
CUI: C0042485
Disease: Venous Insufficiency
Venous Insufficiency
17 0 3 0.18 0 0
CUI: C0267602
Disease: Descending perineum syndrome
Descending perineum syndrome
4 0 1 0.17 0 0