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: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 1.0E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 1 1.7E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 1.1E-02 0 0
CUI: C1838099
Disease: ABCD syndrome
ABCD syndrome 		1 0 1 2.2E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 3 8.7E-03 0 0
CUI: C1969516
Disease: Aberrant melanosome maturation
Aberrant melanosome maturation 		1 0 1 2.2E-02 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		11 0 1 1.8E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 15 1.6E-02 0 0
CUI: C4073008
Disease: Abnormal best corrected visual acuity test
Abnormal best corrected visual acuity test 		2 0 1 2.1E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 1 8.3E-03 0 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level 		14 0 1 1.7E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 1 9.6E-03 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		29 0 1 1.4E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		39 0 1 1.2E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		42 0 1 1.1E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		6 0 1 2.0E-02 0 0
CUI: C3151111
Disease: Abnormal light- and dark-adapted electroretinogram
Abnormal light- and dark-adapted electroretinogram 		9 0 1 1.9E-02 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		30 0 5 7.0E-02 0 0
CUI: C1847425
Disease: Abnormal oral glucose tolerance
Abnormal oral glucose tolerance 		15 0 1 1.7E-02 0 0
CUI: C4025880
Disease: Abnormal parotid gland morphology
Abnormal parotid gland morphology 		1 0 1 2.2E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		58 5 1 9.7E-03 1 3.2E-02
CUI: C4023146
Disease: Abnormal platelet granules
Abnormal platelet granules 		4 0 3 6.4E-02 0 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		13 0 1 1.7E-02 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		13 8 1 1.7E-02 2 6.1E-02
CUI: C1856023
Disease: Abnormal vagina morphology
Abnormal vagina morphology 		12 0 1 1.8E-02 0 0