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: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		14 29 13 0.81 29 0.56
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		8 36 4 0.21 21 0.31
CUI: C1860050
Disease: Cloverleaf skull
Cloverleaf skull 		8 0 4 0.21 0 0
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		3 20 3 0.20 18 0.33
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		3 11 3 0.20 4 6.8E-02
CUI: C4021723
Disease: Short middle phalanx of toe
Short middle phalanx of toe 		4 0 3 0.19 0 0
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		20 24 5 0.17 19 0.33
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis 		6 1 3 0.17 1 1.9E-02
CUI: C4023383
Disease: Narrow internal auditory canal
Narrow internal auditory canal 		14 0 4 0.16 0 0
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		16 42 4 0.15 1 1.1E-02
CUI: C0432055
Disease: Simple syndactyly of fingers - first web
Simple syndactyly of fingers - first web 		9 0 3 0.14 0 0
CUI: C0264353
Disease: Bronchomalacia
Bronchomalacia 		10 0 3 0.14 0 0
CUI: C1450010
Disease: Plagiocephaly, Nonsynostotic
Plagiocephaly, Nonsynostotic 		2 0 2 0.13 0 0
CUI: C1721053
Disease: Female Athlete Triad Syndrome
Female Athlete Triad Syndrome 		2 0 2 0.13 0 0
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		2 16 2 0.13 12 0.21
CUI: C1863363
Disease: Cartilaginous trachea
Cartilaginous trachea 		2 0 2 0.13 0 0
CUI: C2931888
Disease: Pfeiffer type acrocephalosyndactyly
Pfeiffer type acrocephalosyndactyly 		2 0 2 0.13 0 0
CUI: C4024730
Disease: Calcaneonavicular fusion
Calcaneonavicular fusion 		2 0 2 0.13 0 0
CUI: C1863200
Disease: Lacrimal gland hypoplasia
Lacrimal gland hypoplasia 		3 0 2 0.12 0 0
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		3 10 2 0.12 8 0.15
CUI: C4021377
Disease: Prominent crus of helix
Prominent crus of helix 		3 0 2 0.12 0 0
CUI: C4021418
Disease: Absent proximal phalanx of thumb
Absent proximal phalanx of thumb 		3 0 2 0.12 0 0
CUI: C4021564
Disease: Hypoplasia of the lacrimal punctum
Hypoplasia of the lacrimal punctum 		3 0 2 0.12 0 0
CUI: C4021627
Disease: Bilateral triphalangeal thumbs
Bilateral triphalangeal thumbs 		3 0 2 0.12 0 0
CUI: C4024215
Disease: Aplasia of the parotid gland
Aplasia of the parotid gland 		3 0 2 0.12 0 0