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 1.00 0 0
CUI: C1850040
Disease: Pelviscapular dysplasia
Pelviscapular dysplasia 		1 0 1 1.00 0 0
CUI: C4025491
Disease: Abnormality of the joint spaces of the elbow
Abnormality of the joint spaces of the elbow 		1 0 1 1.00 0 0
CUI: C1850044
Disease: Prominent protruding coccyx
Prominent protruding coccyx 		2 0 1 0.50 0 0
CUI: C1850048
Disease: Absent proximal finger flexion creases
Absent proximal finger flexion creases 		2 0 1 0.50 0 0
CUI: C4025688
Disease: Abnormality of the skull base
Abnormality of the skull base 		2 0 1 0.50 0 0
CUI: C1969178
Disease: Mesomelic leg shortening
Mesomelic leg shortening 		3 0 1 0.33 0 0
CUI: C4021175
Disease: Microtia, first degree
Microtia, first degree 		3 0 1 0.33 0 0
CUI: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly 		4 0 1 0.25 0 0
CUI: C1850041
Disease: Facial hirsutism
Facial hirsutism 		4 0 1 0.25 0 0
CUI: C1865598
Disease: Alveolar ridge overgrowth
Alveolar ridge overgrowth 		5 0 1 0.20 0 0
CUI: C1836186
Disease: Fibular aplasia
Fibular aplasia 		9 0 1 0.11 0 0
CUI: C0426808
Disease: Long clavicle
Long clavicle 		10 0 1 1.0E-01 0 0
CUI: C1865030
Disease: Hypoplastic pubic bone
Hypoplastic pubic bone 		10 0 1 1.0E-01 0 0
CUI: C2930865
Disease: Ramer Ladda syndrome
Ramer Ladda syndrome 		10 0 1 1.0E-01 0 0
CUI: C4025891
Disease: Ambiguous genitalia, female
Ambiguous genitalia, female 		10 0 1 1.0E-01 0 0
CUI: C4021823
Disease: Ambiguous genitalia, male
Ambiguous genitalia, male 		13 0 1 7.7E-02 0 0
CUI: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia 		14 0 1 7.1E-02 0 0
CUI: C0020225
Disease: Hydranencephaly
Hydranencephaly 		15 0 1 6.7E-02 0 0
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist 		15 0 1 6.7E-02 0 0
CUI: C0425782
Disease: Breast size
Breast size 		16 0 1 6.2E-02 0 0
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin 		16 0 1 6.2E-02 0 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		16 0 1 6.2E-02 0 0
CUI: C1846434
Disease: Hypoplastic scapulae
Hypoplastic scapulae 		18 0 1 5.6E-02 0 0
CUI: C0025988
Disease: Microglossia
Microglossia 		19 0 1 5.3E-02 0 0