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: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		3 11 3 0.19 7 0.15
CUI: C0410719
Disease: Deformity of bone
Deformity of bone 		17 0 5 0.18 0 0
CUI: C4021723
Disease: Short middle phalanx of toe
Short middle phalanx of toe 		4 0 3 0.18 0 0
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis 		6 1 3 0.16 1 2.4E-02
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		14 29 4 0.15 1 1.4E-02
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		15 52 4 0.15 1 1.1E-02
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		8 36 3 0.14 1 1.3E-02
CUI: C1860050
Disease: Cloverleaf skull
Cloverleaf skull 		8 0 3 0.14 0 0
CUI: C3897045
Disease: Short Stature Homeobox Deficiency
Short Stature Homeobox Deficiency 		8 0 3 0.14 0 0
CUI: C0271547
Disease: Overproduction of growth hormone
Overproduction of growth hormone 		2 0 2 0.12 0 0
CUI: C0281913
Disease: Swelling of skeletal muscle
Swelling of skeletal muscle 		2 0 2 0.12 0 0
CUI: C0744483
Disease: growth hormone treatment
growth hormone treatment 		20 1 4 0.12 1 2.4E-02
CUI: C1450010
Disease: Plagiocephaly, Nonsynostotic
Plagiocephaly, Nonsynostotic 		2 0 2 0.12 0 0
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		2 16 2 0.12 1 1.8E-02
CUI: C1863363
Disease: Cartilaginous trachea
Cartilaginous trachea 		2 0 2 0.12 0 0
CUI: C2931888
Disease: Pfeiffer type acrocephalosyndactyly
Pfeiffer type acrocephalosyndactyly 		2 0 2 0.12 0 0
CUI: C4024730
Disease: Calcaneonavicular fusion
Calcaneonavicular fusion 		2 0 2 0.12 0 0
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		3 0 2 0.12 0 0
CUI: C1863200
Disease: Lacrimal gland hypoplasia
Lacrimal gland hypoplasia 		3 0 2 0.12 0 0
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
CUI: C4024822
Disease: Lacrimal gland aplasia
Lacrimal gland aplasia 		3 0 2 0.12 0 0