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: C4021601
Disease: Premature eruption of permanent teeth
Premature eruption of permanent teeth 		1 1 1 1.00 1 0.20
CUI: C4024855
Disease: Lack of subcutaneous fatty tissue
Lack of subcutaneous fatty tissue 		1 0 1 1.00 0 0
CUI: C1837733
Disease: Broad lateral eyebrow
Broad lateral eyebrow 		2 2 1 0.50 1 0.17
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
Abnormal aggressive, impulsive or violent behavior 		2 3 1 0.50 1 0.14
CUI: C4025139
Disease: Fifth finger distal phalanx clinodactyly
Fifth finger distal phalanx clinodactyly 		2 1 1 0.50 1 0.20
CUI: C1335411
Disease: Cyst of pineal gland
Cyst of pineal gland 		3 0 1 0.33 0 0
CUI: C1844734
Disease: Hemihypotrophy of lower limb
Hemihypotrophy of lower limb 		3 0 1 0.33 0 0
CUI: C1861325
Disease: Progressive conductive hearing impairment
Progressive conductive hearing impairment 		3 0 1 0.33 0 0
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size 		3 2 1 0.33 1 0.17
CUI: C0344541
Disease: Persistent pupillary membranes
Persistent pupillary membranes 		4 2 1 0.25 1 0.17
CUI: C1851883
Disease: Small, conical teeth
Small, conical teeth 		4 0 1 0.25 0 0
CUI: C4023249
Disease: Patent ductus arteriosus after birth at term
Patent ductus arteriosus after birth at term 		4 0 1 0.25 0 0
CUI: C4021168
Disease: Slender toe
Slender toe 		6 0 1 0.17 0 0
CUI: C4023691
Disease: Abnormality of pain sensation
Abnormality of pain sensation 		6 0 1 0.17 0 0
CUI: C4022873
Disease: Small pituitary gland
Small pituitary gland 		7 4 1 0.14 1 0.12
CUI: C1335729
Disease: Refractory Neoplasm
Refractory Neoplasm 		9 0 1 0.11 0 0
CUI: C1837406
Disease: Hypoplasia involving bones of the upper limbs
Hypoplasia involving bones of the upper limbs 		9 0 1 0.11 0 0
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		10 0 1 1.0E-01 0 0
CUI: C4024956
Disease: Grammar-specific speech disorder
Grammar-specific speech disorder 		10 1 1 1.0E-01 1 0.20
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		11 7 1 9.1E-02 1 9.1E-02
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		13 20 1 7.7E-02 5 0.25
CUI: C4023701
Disease: Impaired visuospatial constructive cognition
Impaired visuospatial constructive cognition 		15 0 1 6.7E-02 0 0
CUI: C1856119
Disease: Low hanging columella
Low hanging columella 		17 0 1 5.9E-02 0 0
CUI: C4025660
Disease: Abnormality of the ankles
Abnormality of the ankles 		17 0 1 5.9E-02 0 0
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		20 0 1 5.0E-02 0 0