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: C4022728
Disease: Abnormal upper to lower segment ratio
Abnormal upper to lower segment ratio 		1 1 1 0.25 1 1.00
CUI: C4023709
Disease: Sacrococcygeal pilonidal abnormality
Sacrococcygeal pilonidal abnormality 		1 0 1 0.25 0 0
CUI: C4023736
Disease: 2-5 finger syndactyly
2-5 finger syndactyly 		1 0 1 0.25 0 0
CUI: C4024164
Disease: Thin ear helix
Thin ear helix 		1 0 1 0.25 0 0
CUI: C4225499
Disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES 		1 0 1 0.25 0 0
CUI: C0333457
Disease: Segmental demyelination
Segmental demyelination 		2 0 1 0.20 0 0
CUI: C0347071
Disease: Malignant neoplasm of other and unspecified sites
Malignant neoplasm of other and unspecified sites 		2 0 1 0.20 0 0
CUI: C1836213
Disease: Aplasia/Hypoplasia of the hallux
Aplasia/Hypoplasia of the hallux 		2 0 1 0.20 0 0
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		14 0 3 0.20 0 0
CUI: C2931507
Disease: Sternal cleft
Sternal cleft 		2 0 1 0.20 0 0
CUI: C3495439
Disease: Inflammatory disorder of breast
Inflammatory disorder of breast 		2 0 1 0.20 0 0
CUI: C4023791
Disease: Abnormality of the clivus
Abnormality of the clivus 		2 1 1 0.20 1 1.00
CUI: C4310743
Disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET
STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET 		2 0 1 0.20 0 0
CUI: C4021834
Disease: Abnormal parietal bone morphology
Abnormal parietal bone morphology 		9 0 2 0.18 0 0
CUI: C0410935
Disease: Wide cranial sutures
Wide cranial sutures 		10 0 2 0.17 0 0
CUI: C4023011
Disease: Craniofacial dystonia
Craniofacial dystonia 		3 0 1 0.17 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		3 0 1 0.17 0 0
CUI: C4025828
Disease: Abnormality of the scapula
Abnormality of the scapula 		3 0 1 0.17 0 0
CUI: C1848977
Disease: Short upper lip
Short upper lip 		12 0 2 0.14 0 0
CUI: C1863516
Disease: Microcephaly with Simplified Gyral Pattern
Microcephaly with Simplified Gyral Pattern 		4 0 1 0.14 0 0
CUI: C4021167
Disease: Tapered toe
Tapered toe 		4 0 1 0.14 0 0
CUI: C0017572
Disease: Gingival Recession
Gingival Recession 		14 0 2 0.12 0 0
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
Aplasia/Hypoplasia of the nails 		14 0 2 0.12 0 0
CUI: C3711370
Disease: Spastic Paraplegia Type 7
Spastic Paraplegia Type 7 		5 0 1 0.12 0 0
CUI: C4025759
Disease: Abnormal mitral valve morphology
Abnormal mitral valve morphology 		5 0 1 0.12 0 0