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: C2014414
Disease: orthopedic disorders
orthopedic disorders 		2 0 1 0.50 0 0
CUI: C0235754
Disease: Bladder papilloma
Bladder papilloma 		3 0 1 0.33 0 0
CUI: C0392439
Disease: Acrodermatitis continua of Hallopeau
Acrodermatitis continua of Hallopeau 		3 0 1 0.33 0 0
CUI: C0522618
Disease: Focal dysplasia
Focal dysplasia 		3 1 1 0.33 1 0.12
CUI: C1861217
Disease: Small foramen magnum
Small foramen magnum 		3 0 1 0.33 0 0
CUI: C1863200
Disease: Lacrimal gland hypoplasia
Lacrimal gland hypoplasia 		3 0 1 0.33 0 0
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		3 11 1 0.33 7 0.58
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		3 9 1 0.33 7 0.70
CUI: C3278024
Disease: Enlarged cerebellum
Enlarged cerebellum 		3 0 1 0.33 0 0
CUI: C4021377
Disease: Prominent crus of helix
Prominent crus of helix 		3 0 1 0.33 0 0
CUI: C4021418
Disease: Absent proximal phalanx of thumb
Absent proximal phalanx of thumb 		3 0 1 0.33 0 0
CUI: C4021564
Disease: Hypoplasia of the lacrimal punctum
Hypoplasia of the lacrimal punctum 		3 0 1 0.33 0 0
CUI: C4021627
Disease: Bilateral triphalangeal thumbs
Bilateral triphalangeal thumbs 		3 0 1 0.33 0 0
CUI: C4024215
Disease: Aplasia of the parotid gland
Aplasia of the parotid gland 		3 0 1 0.33 0 0
CUI: C4024822
Disease: Lacrimal gland aplasia
Lacrimal gland aplasia 		3 0 1 0.33 0 0
CUI: C1394030
Disease: Coronal hypospadias
Coronal hypospadias 		4 0 1 0.25 0 0
CUI: C1858569
Disease: Absence of Stensen duct
Absence of Stensen duct 		4 0 1 0.25 0 0
CUI: C1859460
Disease: Bowed humerus
Bowed humerus 		4 1 1 0.25 1 0.12
CUI: C1866689
Disease: Short sacroiliac notch
Short sacroiliac notch 		4 0 1 0.25 0 0
CUI: C1968574
Disease: Hypoplastic lacrimal duct
Hypoplastic lacrimal duct 		4 0 1 0.25 0 0
CUI: C3553368
Disease: Limited hip extension
Limited hip extension 		4 0 1 0.25 0 0
CUI: C4011754
Disease: Nevus, Keratinocytic, Nonepidermolytic
Nevus, Keratinocytic, Nonepidermolytic 		4 0 1 0.25 0 0
CUI: C4021723
Disease: Short middle phalanx of toe
Short middle phalanx of toe 		4 0 1 0.25 0 0
CUI: C4024345
Disease: Radial deviation of the 3rd finger
Radial deviation of the 3rd finger 		4 0 1 0.25 0 0
CUI: C4551464
Disease: Aplasia/hypoplasia of the extremities
Aplasia/hypoplasia of the extremities 		4 0 1 0.25 0 0