Source: CLINVAR ×
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: C0006157
Disease: Breech Presentation
Breech Presentation 		10 11 5 0.23 5 0.18
CUI: C0008489
Disease: Chorea
Chorea 		11 14 4 0.17 3 9.1E-02
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		4 4 3 0.17 2 8.3E-02
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		6 6 3 0.15 2 7.7E-02
CUI: C0020490
Disease: Hyperopia
Hyperopia 		16 17 4 0.14 3 8.3E-02
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		10 9 3 0.12 1 3.3E-02
CUI: C1836038
Disease: Poor head control
Poor head control 		10 13 3 0.12 2 6.1E-02
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		11 11 3 0.12 2 6.5E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 51 6 0.12 5 7.4E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 4 0.12 1 2.3E-02
CUI: C1846868
Disease: Parkinsonism with favorable response to dopaminergic medication
Parkinsonism with favorable response to dopaminergic medication 		2 2 2 0.12 2 9.1E-02
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		2 2 2 0.12 1 4.3E-02
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		2 2 2 0.12 1 4.3E-02
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		2 7 2 0.12 4 0.16
CUI: C4021227
Disease: Underdeveloped nasolabial fold
Underdeveloped nasolabial fold 		2 2 2 0.12 1 4.3E-02
CUI: C4310699
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 		2 2 2 0.12 2 9.1E-02
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		2 13 2 0.12 2 6.1E-02
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		2 17 2 0.12 4 0.11
CUI: C0019572
Disease: Hirsutism
Hirsutism 		12 13 3 0.12 2 6.1E-02
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		13 18 3 0.11 5 0.14
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		23 27 4 0.11 4 8.9E-02
CUI: C1456852
Disease: Ventouse delivery (finding)
Ventouse delivery (finding) 		3 3 2 0.11 2 8.7E-02
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		3 4 2 0.11 1 4.0E-02
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		14 22 3 0.11 3 7.3E-02
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		14 14 3 0.11 3 9.1E-02