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: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis 		6 0 4 0.36 0 0
CUI: C0432124
Disease: Unicoronal craniosynostosis
Unicoronal craniosynostosis 		2 0 2 0.22 0 0
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		2 16 2 0.22 1 5.9E-02
CUI: C1863363
Disease: Cartilaginous trachea
Cartilaginous trachea 		2 0 2 0.22 0 0
CUI: C2931888
Disease: Pfeiffer type acrocephalosyndactyly
Pfeiffer type acrocephalosyndactyly 		2 0 2 0.22 0 0
CUI: C4024730
Disease: Calcaneonavicular fusion
Calcaneonavicular fusion 		2 0 2 0.22 0 0
CUI: C0584837
Disease: Choanal stenosis
Choanal stenosis 		14 2 4 0.21 2 1.00
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		3 20 2 0.20 2 1.0E-01
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		3 0 2 0.20 0 0
CUI: C0546297
Disease: Hallux Varus
Hallux Varus 		4 0 2 0.18 0 0
CUI: C4021723
Disease: Short middle phalanx of toe
Short middle phalanx of toe 		4 0 2 0.18 0 0
CUI: C1275277
Disease: Soft tissue chondroma
Soft tissue chondroma 		6 0 2 0.15 0 0
CUI: C0409477
Disease: Ankylosis of the elbow joint
Ankylosis of the elbow joint 		7 0 2 0.14 0 0
CUI: C1842231
Disease: Broad metatarsal
Broad metatarsal 		7 0 2 0.14 0 0
CUI: C1856912
Disease: Shortening of all middle phalanges of the fingers
Shortening of all middle phalanges of the fingers 		7 0 2 0.14 0 0
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		8 36 2 0.13 1 2.7E-02
CUI: C1860050
Disease: Cloverleaf skull
Cloverleaf skull 		8 0 2 0.13 0 0
CUI: C0264353
Disease: Bronchomalacia
Bronchomalacia 		10 0 2 0.12 0 0
CUI: C2930865
Disease: Ramer Ladda syndrome
Ramer Ladda syndrome 		10 0 2 0.12 0 0
CUI: C4025750
Disease: Abnormality of the nasopharynx
Abnormality of the nasopharynx 		10 0 2 0.12 0 0
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		20 0 3 0.12 0 0
CUI: C0040409
Disease: Tongue Diseases
Tongue Diseases 		1 0 1 0.11 0 0
CUI: C0432149
Disease: Lumbar hemivertebra
Lumbar hemivertebra 		1 0 1 0.11 0 0
CUI: C0432238
Disease: Bent bone dysplasia
Bent bone dysplasia 		1 0 1 0.11 0 0
CUI: C0685678
Disease: Incomplete ossification of pubis
Incomplete ossification of pubis 		1 0 1 0.11 0 0