Source: CURATED ×
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: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome 		1 0 1 3.6E-03 0 0
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		14 0 3 1.0E-02 0 0
CUI: C4304539
Disease: 20p12.3 microdeletion syndrome
20p12.3 microdeletion syndrome 		1 0 1 3.6E-03 0 0
CUI: C4706258
Disease: 2q33.1 microdeletion syndrome
2q33.1 microdeletion syndrome 		1 0 1 3.6E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 1 3.5E-03 0 0
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism 		8 0 1 3.5E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		1 0 1 3.6E-03 0 0
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci 		3 0 2 7.2E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 1 3.4E-03 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		0 2 0 0 1 1.7E-03
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		6 0 1 3.5E-03 0 0
CUI: C4021817
Disease: Abnormality of head or neck
Abnormality of head or neck 		5 0 1 3.6E-03 0 0
CUI: C4022810
Disease: Abnormality of nervous system morphology
Abnormality of nervous system morphology 		10 0 2 7.0E-03 0 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		7 0 1 3.5E-03 0 0
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		9 0 1 3.5E-03 0 0
CUI: C4024297
Disease: Abnormality of the hairline
Abnormality of the hairline 		0 1 0 0 1 1.7E-03
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		8 0 3 1.1E-02 0 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		0 2 0 0 1 1.7E-03
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system 		2 0 1 3.6E-03 0 0
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal 		109 0 10 2.7E-02 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		102 0 3 8.0E-03 0 0
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow 		0 1 0 0 1 1.7E-03
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		0 1 0 0 1 1.7E-03
CUI: C0234238
Disease: Ache
Ache 		49 0 5 1.6E-02 0 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1 0 1 3.6E-03 0 0