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: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated 		1 0 1 9.3E-04 0 0
CUI: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome 		1 0 1 9.3E-04 0 0
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis 		1 0 1 9.3E-04 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 2 1.8E-03 0 0
CUI: C4304539
Disease: 20p12.3 microdeletion syndrome
20p12.3 microdeletion syndrome 		1 0 1 9.3E-04 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		10 0 1 9.2E-04 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		9 0 1 9.2E-04 0 0
CUI: C0580190
Disease: 3-Phosphoglycerate dehydrogenase deficiency
3-Phosphoglycerate dehydrogenase deficiency 		1 0 1 9.3E-04 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		3 0 1 9.3E-04 0 0
CUI: C3714042
Disease: 46,XY Disorder of Sex Development Due To LH Defects
46,XY Disorder of Sex Development Due To LH Defects 		1 0 1 9.3E-04 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 3 2.8E-03 0 0
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		3 0 1 9.3E-04 0 0
CUI: C3151064
Disease: 46,XY SEX REVERSAL 6
46,XY SEX REVERSAL 6 		1 0 1 9.3E-04 0 0
CUI: C4304505
Disease: 8p11.2 deletion syndrome
8p11.2 deletion syndrome 		1 0 1 9.3E-04 0 0
CUI: C1838099
Disease: ABCD syndrome
ABCD syndrome 		1 0 1 9.3E-04 0 0
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism 		8 0 1 9.3E-04 0 0
CUI: C0270858
Disease: Abdominal Migraine
Abdominal Migraine 		9 0 1 9.2E-04 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		1 0 1 9.3E-04 0 0
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci 		3 0 1 9.3E-04 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 2 1.8E-03 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		16 0 2 1.8E-03 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		6 0 1 9.3E-04 0 0
CUI: C0000771
Disease: Abnormalities, Drug-Induced
Abnormalities, Drug-Induced 		5 0 1 9.3E-04 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0 131 0 0 1 6.6E-04
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		0 1 0 0 1 7.2E-04