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: C1968942
Disease: Abnormal sacral segmentation
Abnormal sacral segmentation 		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: C4225418
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 		1 0 1 0.50 0 0
CUI: C1850048
Disease: Absent proximal finger flexion creases
Absent proximal finger flexion creases 		2 0 1 0.33 0 0
CUI: C4023172
Disease: Broad chin
Broad chin 		2 0 1 0.33 0 0
CUI: C4025688
Disease: Abnormality of the skull base
Abnormality of the skull base 		2 0 1 0.33 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: C4021580
Disease: Progressive extrapyramidal muscular rigidity
Progressive extrapyramidal muscular rigidity 		4 0 1 0.20 0 0
CUI: C1865598
Disease: Alveolar ridge overgrowth
Alveolar ridge overgrowth 		5 0 1 0.17 0 0
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile 		5 0 1 0.17 0 0
CUI: C4022490
Disease: Prominent coccyx
Prominent coccyx 		6 0 1 0.14 0 0
CUI: C4477013
Disease: Impaired oropharyngeal swallow response
Impaired oropharyngeal swallow response 		6 0 1 0.14 0 0
CUI: C4024168
Disease: Thickened ears
Thickened ears 		7 0 1 0.12 0 0
CUI: C4551676
Disease: Laryngismus stridulus
Laryngismus stridulus 		7 0 1 0.12 0 0
CUI: C1836186
Disease: Fibular aplasia
Fibular aplasia 		9 0 1 1.0E-01 0 0
CUI: C0426808
Disease: Long clavicle
Long clavicle 		10 0 1 9.1E-02 0 0
CUI: C1865030
Disease: Hypoplastic pubic bone
Hypoplastic pubic bone 		10 0 1 9.1E-02 0 0
CUI: C2930865
Disease: Ramer Ladda syndrome
Ramer Ladda syndrome 		10 0 1 9.1E-02 0 0
CUI: C4025891
Disease: Ambiguous genitalia, female
Ambiguous genitalia, female 		10 0 1 9.1E-02 0 0