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: C1853573
Disease: Hypoplastic inferior pubic rami
Hypoplastic inferior pubic rami 		1 0 1 0.33 0 0
CUI: C4225229
Disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES
CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES 		1 0 1 0.33 0 0
CUI: C4304594
Disease: 16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome 		1 0 1 0.33 0 0
CUI: C1835764
Disease: Vertebral arch anomaly
Vertebral arch anomaly 		2 0 1 0.25 0 0
CUI: C1836123
Disease: Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome 		2 0 1 0.25 0 0
CUI: C1849358
Disease: Enlarged labia minora
Enlarged labia minora 		2 0 1 0.25 0 0
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		2 0 1 0.25 0 0
CUI: C4022397
Disease: Congenital malformation of the left heart
Congenital malformation of the left heart 		2 0 1 0.25 0 0
CUI: C4025324
Disease: Abnormality of the cheek
Abnormality of the cheek 		2 0 1 0.25 0 0
CUI: C0796094
Disease: Blepharophimosis syndrome Ohdo type
Blepharophimosis syndrome Ohdo type 		3 0 1 0.20 0 0
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		3 0 1 0.20 0 0
CUI: C4023133
Disease: Shortening of all phalanges of fingers
Shortening of all phalanges of fingers 		3 1 1 0.20 1 2.2E-02
CUI: C0452136
Disease: Conductive hearing loss, bilateral
Conductive hearing loss, bilateral 		4 0 1 0.17 0 0
CUI: C4021771
Disease: Short distal phalanx of toe
Short distal phalanx of toe 		4 0 1 0.17 0 0
CUI: C1299493
Disease: Developmental failure of fusion
Developmental failure of fusion 		5 0 1 0.14 0 0
CUI: C1849537
Disease: Persistent open anterior fontanelle
Persistent open anterior fontanelle 		5 0 1 0.14 0 0
CUI: C3714535
Disease: Malocclusion, Angle class II
Malocclusion, Angle class II 		5 0 1 0.14 0 0
CUI: C3874346
Disease: Skeletal malocclusion
Skeletal malocclusion 		5 0 1 0.14 0 0
CUI: C2861614
Disease: AML M5b
AML M5b 		6 0 1 0.12 0 0
CUI: C0009075
Disease: Melanoma, Cloudman S91
Melanoma, Cloudman S91 		7 0 1 0.11 0 0
CUI: C0018598
Disease: Melanoma, Harding-Passey
Melanoma, Harding-Passey 		7 0 1 0.11 0 0
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		17 0 2 0.11 0 0
CUI: C1835762
Disease: Widely-spaced maxillary central incisors
Widely-spaced maxillary central incisors 		7 0 1 0.11 0 0
CUI: C2677362
Disease: Alveolar capillary dysplasia
Alveolar capillary dysplasia 		7 0 1 0.11 0 0
CUI: C0266283
Disease: Ectopic thyroid tissue (disorder)
Ectopic thyroid tissue (disorder) 		8 0 1 1.0E-01 0 0