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: C0010495
Disease: Cutis Laxa
Cutis Laxa 		70 0 1 1.4E-02 0 0
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		77 0 1 1.3E-02 0 0
CUI: C0423757
Disease: Thin skin
Thin skin 		77 0 1 1.3E-02 0 0
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		78 0 1 1.3E-02 0 0
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		85 0 1 1.2E-02 0 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		85 0 1 1.2E-02 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 1 1.0E-02 0 0
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		102 0 1 9.8E-03 0 0
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		106 0 1 9.4E-03 0 0
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		106 0 1 9.4E-03 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 0 1 8.9E-03 0 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		129 0 1 7.8E-03 0 0
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 0 1 7.5E-03 0 0
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		138 0 1 7.2E-03 0 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		149 0 1 6.7E-03 0 0
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		151 0 1 6.6E-03 0 0
CUI: C0017574
Disease: Gingivitis
Gingivitis 		152 0 1 6.6E-03 0 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		155 0 1 6.5E-03 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		172 0 1 5.8E-03 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 1 5.5E-03 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 0 1 5.4E-03 0 0
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		188 0 1 5.3E-03 0 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 0 1 4.8E-03 0 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 0 1 4.8E-03 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 1 4.5E-03 0 0