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: C0432361
Disease: Diffuse neurofibroma
Diffuse neurofibroma 		1 0 1 0.50 0 0
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasia 		4 0 2 0.50 0 0
CUI: C1861937
Disease: Anterior tibial bowing
Anterior tibial bowing 		1 0 1 0.50 0 0
CUI: C1865783
Disease: Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies 		1 0 1 0.50 0 0
CUI: C4024670
Disease: Poorly ossified cervical vertebrae
Poorly ossified cervical vertebrae 		1 0 1 0.50 0 0
CUI: C4025257
Disease: Shortening of all phalanges of the toes
Shortening of all phalanges of the toes 		1 0 1 0.50 0 0
CUI: C0432239
Disease: Kyphomelic dysplasia
Kyphomelic dysplasia 		2 0 1 0.33 0 0
CUI: C1861226
Disease: Small abnormally formed scapulae
Small abnormally formed scapulae 		2 0 1 0.33 0 0
CUI: C0025349
Disease: Menstruation, Retrograde
Menstruation, Retrograde 		3 0 1 0.25 0 0
CUI: C0279603
Disease: Chondroblastic osteosarcoma
Chondroblastic osteosarcoma 		3 0 1 0.25 0 0
CUI: C1837078
Disease: Hypoplastic inferior ilia
Hypoplastic inferior ilia 		3 0 1 0.25 0 0
CUI: C4023133
Disease: Shortening of all phalanges of fingers
Shortening of all phalanges of fingers 		3 0 1 0.25 0 0
CUI: C4521481
Disease: Pseudomyotonia (finding)
Pseudomyotonia (finding) 		3 0 1 0.25 0 0
CUI: C4022707
Disease: Abnormal scrotal rugation
Abnormal scrotal rugation 		4 0 1 0.20 0 0
CUI: C0553647
Disease: calcifying aponeurotic fibroma
calcifying aponeurotic fibroma 		5 0 1 0.17 0 0
CUI: C0578531
Disease: Skin dimple
Skin dimple 		5 0 1 0.17 0 0
CUI: C1835570
Disease: Hypoplastic cervical vertebrae
Hypoplastic cervical vertebrae 		5 0 1 0.17 0 0
CUI: C1857074
Disease: Absent sternal ossification
Absent sternal ossification 		5 0 1 0.17 0 0
CUI: C4025899
Disease: Abnormality of male internal genitalia
Abnormality of male internal genitalia 		5 0 1 0.17 0 0
CUI: C0340231
Disease: Tracheobronchomalacia
Tracheobronchomalacia 		6 0 1 0.14 0 0
CUI: C0795693
Disease: Skeletal malformation
Skeletal malformation 		6 0 1 0.14 0 0
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		6 0 1 0.14 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 1 0.14 0 0
CUI: C4288538
Disease: Ovotesticular Differences of Sex Development
Ovotesticular Differences of Sex Development 		6 0 1 0.14 0 0
CUI: C1142152
Disease: Heart valve calcification
Heart valve calcification 		7 0 1 0.12 0 0