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: C1389473
Disease: Pelvic hypoplasia
Pelvic hypoplasia 		1 0 1 0.50 0 0
CUI: C1850040
Disease: Pelviscapular dysplasia
Pelviscapular dysplasia 		1 0 1 0.50 0 0
CUI: C1850043
Disease: Anterior rounding of vertebral bodies
Anterior rounding of vertebral bodies 		1 0 1 0.50 0 0
CUI: C4025491
Disease: Abnormality of the joint spaces of the elbow
Abnormality of the joint spaces of the elbow 		1 0 1 0.50 0 0
CUI: C4479246
Disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		1 8 1 0.50 1 0.12
CUI: C1850044
Disease: Prominent protruding coccyx
Prominent protruding coccyx 		2 0 1 0.33 0 0
CUI: C1856644
Disease: Absent/hypoplastic coccyx
Absent/hypoplastic coccyx 		2 1 1 0.33 1 1.00
CUI: C2751480
Disease: Hypoplastic coccygeal vertebrae
Hypoplastic coccygeal vertebrae 		2 1 1 0.33 1 1.00
CUI: C4025688
Disease: Abnormality of the skull base
Abnormality of the skull base 		2 0 1 0.33 0 0
CUI: C1857572
Disease: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS 		3 0 1 0.25 0 0
CUI: C1969178
Disease: Mesomelic leg shortening
Mesomelic leg shortening 		3 0 1 0.25 0 0
CUI: C4021175
Disease: Microtia, first degree
Microtia, first degree 		3 0 1 0.25 0 0
CUI: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly 		4 0 1 0.20 0 0
CUI: C1850041
Disease: Facial hirsutism
Facial hirsutism 		4 0 1 0.20 0 0
CUI: C0578531
Disease: Skin dimple
Skin dimple 		5 1 1 0.17 1 1.00
CUI: C1562689
Disease: Congenital hereditary endothelial dystrophy
Congenital hereditary endothelial dystrophy 		5 0 1 0.17 0 0
CUI: C1865598
Disease: Alveolar ridge overgrowth
Alveolar ridge overgrowth 		5 0 1 0.17 0 0
CUI: C0544008
Disease: Chandler syndrome
Chandler syndrome 		6 0 1 0.14 0 0
CUI: C2826330
Disease: Refractory anemia with ring sideroblasts associated with marked thrombocytosis
Refractory anemia with ring sideroblasts associated with marked thrombocytosis 		6 0 1 0.14 0 0
CUI: C4022490
Disease: Prominent coccyx
Prominent coccyx 		6 1 1 0.14 1 1.00
CUI: C0476217
Disease: Head movements abnormal
Head movements abnormal 		8 0 1 0.11 0 0
CUI: C1836186
Disease: Fibular aplasia
Fibular aplasia 		9 0 1 1.0E-01 0 0
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		9 0 1 1.0E-01 0 0
CUI: C0234853
Disease: Facial grimacing
Facial grimacing 		10 0 1 9.1E-02 0 0
CUI: C0426808
Disease: Long clavicle
Long clavicle 		10 0 1 9.1E-02 0 0