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 1 4 0.40 1 2.8E-02
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		3 1 3 0.38 1 2.8E-02
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		3 11 3 0.38 4 9.3E-02
CUI: C4021377
Disease: Prominent crus of helix
Prominent crus of helix 		3 0 3 0.38 0 0
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		20 24 7 0.33 16 0.36
CUI: C4021723
Disease: Short middle phalanx of toe
Short middle phalanx of toe 		4 0 3 0.33 0 0
CUI: C2676443
Disease: Proximal radio-ulnar synostosis
Proximal radio-ulnar synostosis 		5 0 3 0.30 0 0
CUI: C0332877
Disease: Congenital premature fusion
Congenital premature fusion 		6 1 3 0.27 1 2.8E-02
CUI: C1450010
Disease: Plagiocephaly, Nonsynostotic
Plagiocephaly, Nonsynostotic 		2 0 2 0.25 0 0
CUI: C1849227
Disease: Cleft of chin
Cleft of chin 		2 0 2 0.25 0 0
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		2 16 2 0.25 11 0.27
CUI: C1863363
Disease: Cartilaginous trachea
Cartilaginous trachea 		2 0 2 0.25 0 0
CUI: C1863382
Disease: Absent first metatarsal
Absent first metatarsal 		2 0 2 0.25 0 0
CUI: C1863389
Disease: Apert-Crouzon Disease
Apert-Crouzon Disease 		2 0 2 0.25 0 0
CUI: C2931888
Disease: Pfeiffer type acrocephalosyndactyly
Pfeiffer type acrocephalosyndactyly 		2 0 2 0.25 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 0.25 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 0.25 0 0
CUI: C4024730
Disease: Calcaneonavicular fusion
Calcaneonavicular fusion 		2 0 2 0.25 0 0
CUI: C1860050
Disease: Cloverleaf skull
Cloverleaf skull 		8 0 3 0.23 0 0
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		14 29 4 0.22 13 0.25
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		3 20 2 0.22 14 0.33
CUI: C1863200
Disease: Lacrimal gland hypoplasia
Lacrimal gland hypoplasia 		3 0 2 0.22 0 0
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		3 10 2 0.22 8 0.21
CUI: C4021418
Disease: Absent proximal phalanx of thumb
Absent proximal phalanx of thumb 		3 0 2 0.22 0 0
CUI: C4021564
Disease: Hypoplasia of the lacrimal punctum
Hypoplasia of the lacrimal punctum 		3 0 2 0.22 0 0