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: C1968811
Disease: Prominent antitragus
Prominent antitragus 		1 0 1 1.00 0 0
CUI: C1968814
Disease: Slender ulna
Slender ulna 		1 0 1 1.00 0 0
CUI: C1855513
Disease: Prominent nipples
Prominent nipples 		2 0 1 0.50 0 0
CUI: C1968816
Disease: Broad fingertip
Broad fingertip 		3 0 1 0.33 0 0
CUI: C1168239
Disease: Asymmetry of the ears
Asymmetry of the ears 		4 0 1 0.25 0 0
CUI: C0796037
Disease: Martsolf syndrome
Martsolf syndrome 		6 3 1 0.17 1 0.11
CUI: C1850069
Disease: Undetectable visual evoked potentials
Undetectable visual evoked potentials 		6 0 1 0.17 0 0
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		16 0 1 6.2E-02 0 0
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix 		17 0 1 5.9E-02 0 0
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		22 0 1 4.5E-02 0 0
CUI: C1852504
Disease: Misalignment of teeth
Misalignment of teeth 		22 0 1 4.5E-02 0 0
CUI: C3839753
Disease: Abnormality of nail of toe
Abnormality of nail of toe 		26 0 1 3.8E-02 0 0
CUI: C0454596
Disease: Dysarthria, Spastic
Dysarthria, Spastic 		30 0 1 3.3E-02 0 0
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia 		30 0 1 3.3E-02 0 0
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia 		30 0 1 3.3E-02 0 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora 		30 0 1 3.3E-02 0 0
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		30 0 1 3.3E-02 0 0
CUI: C0231679
Disease: Ulnar deviation of the fingers
Ulnar deviation of the fingers 		31 0 1 3.2E-02 0 0
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		31 0 1 3.2E-02 0 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 0 1 2.9E-02 0 0
CUI: C0040412
Disease: Fissured tongue
Fissured tongue 		36 0 1 2.8E-02 0 0
CUI: C0023882
Disease: Little's Disease
Little's Disease 		37 0 1 2.7E-02 0 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		40 0 1 2.5E-02 0 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		40 0 1 2.5E-02 0 0
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		41 0 1 2.4E-02 0 0