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: C1842231
Disease: Broad metatarsal
Broad metatarsal 		7 0 4 0.17 0 0
CUI: C2673410
Disease: Small midface
Small midface 		23 24 6 0.16 2 7.7E-02
CUI: C0546297
Disease: Hallux Varus
Hallux Varus 		4 0 3 0.14 0 0
CUI: C0584837
Disease: Choanal stenosis
Choanal stenosis 		14 2 4 0.13 1 0.20
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis 		6 0 3 0.13 0 0
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		8 0 3 0.12 0 0
CUI: C1848654
Disease: Broad ribs
Broad ribs 		18 0 4 0.12 0 0
CUI: C0264353
Disease: Bronchomalacia
Bronchomalacia 		10 0 3 0.11 0 0
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		20 0 4 0.11 0 0
CUI: C4025750
Disease: Abnormality of the nasopharynx
Abnormality of the nasopharynx 		10 0 3 0.11 0 0
CUI: C1842229
Disease: Broad metacarpals
Broad metacarpals 		12 0 3 0.10 0 0
CUI: C0264306
Disease: Laryngeal Obstruction
Laryngeal Obstruction 		2 2 2 1.0E-01 1 0.20
CUI: C1849227
Disease: Cleft of chin
Cleft of chin 		2 0 2 1.0E-01 0 0
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		2 0 2 1.0E-01 0 0
CUI: C1863363
Disease: Cartilaginous trachea
Cartilaginous trachea 		2 0 2 1.0E-01 0 0
CUI: C1863382
Disease: Absent first metatarsal
Absent first metatarsal 		2 0 2 1.0E-01 0 0
CUI: C1863389
Disease: Apert-Crouzon Disease
Apert-Crouzon Disease 		2 0 2 1.0E-01 0 0
CUI: C2931888
Disease: Pfeiffer type acrocephalosyndactyly
Pfeiffer type acrocephalosyndactyly 		2 0 2 1.0E-01 0 0
CUI: C3711391
Disease: 6q24-Related Transient Neonatal Diabetes Mellitus
6q24-Related Transient Neonatal Diabetes Mellitus 		2 0 2 1.0E-01 0 0
CUI: C4021360
Disease: Partial duplication of the distal phalanx of the 3rd finger
Partial duplication of the distal phalanx of the 3rd finger 		2 0 2 1.0E-01 0 0
CUI: C4021365
Disease: Partial duplication of the distal phalanx of the 2nd finger
Partial duplication of the distal phalanx of the 2nd finger 		2 0 2 1.0E-01 0 0
CUI: C4024730
Disease: Calcaneonavicular fusion
Calcaneonavicular fusion 		2 0 2 1.0E-01 0 0
CUI: C4749378
Disease: Paternal uniparental disomy of chromosome 6
Paternal uniparental disomy of chromosome 6 		2 0 2 1.0E-01 0 0
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		25 0 4 9.8E-02 0 0
CUI: C0424693
Disease: Broad skull
Broad skull 		3 0 2 9.5E-02 0 0