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: C0796094
Disease: Blepharophimosis syndrome Ohdo type
Blepharophimosis syndrome Ohdo type 		3 0 2 0.67 0 0
CUI: C1853573
Disease: Hypoplastic inferior pubic rami
Hypoplastic inferior pubic rami 		1 0 1 0.50 0 0
CUI: C1849358
Disease: Enlarged labia minora
Enlarged labia minora 		2 0 1 0.33 0 0
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		2 0 1 0.33 0 0
CUI: C4025324
Disease: Abnormality of the cheek
Abnormality of the cheek 		2 0 1 0.33 0 0
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		3 0 1 0.25 0 0
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		3 0 1 0.25 0 0
CUI: C4021771
Disease: Short distal phalanx of toe
Short distal phalanx of toe 		4 0 1 0.20 0 0
CUI: C1299493
Disease: Developmental failure of fusion
Developmental failure of fusion 		5 0 1 0.17 0 0
CUI: C3714535
Disease: Malocclusion, Angle class II
Malocclusion, Angle class II 		5 0 1 0.17 0 0
CUI: C3874346
Disease: Skeletal malocclusion
Skeletal malocclusion 		5 0 1 0.17 0 0
CUI: C2861614
Disease: AML M5b
AML M5b 		6 0 1 0.14 0 0
CUI: C0266283
Disease: Ectopic thyroid tissue (disorder)
Ectopic thyroid tissue (disorder) 		8 0 1 0.11 0 0
CUI: C1303003
Disease: Epicanthus inversus
Epicanthus inversus 		9 0 1 1.0E-01 0 0
CUI: C0332915
Disease: Congenital failure of fusion
Congenital failure of fusion 		11 0 1 8.3E-02 0 0
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis 		11 0 1 8.3E-02 0 0
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		14 0 1 6.7E-02 0 0
CUI: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia 		14 0 1 6.7E-02 0 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		16 0 1 5.9E-02 0 0
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		16 0 1 5.9E-02 0 0
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		17 0 1 5.6E-02 0 0
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		17 0 1 5.6E-02 0 0
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix 		17 0 1 5.6E-02 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 1 4.5E-02 0 0
CUI: C4025835
Disease: Abnormal nasolacrimal system morphology
Abnormal nasolacrimal system morphology 		23 0 1 4.2E-02 0 0