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: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		10 0 1 2.3E-02 0 0
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		4 0 1 2.7E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 1 8.5E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 1.3E-02 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 10 1 1.4E-02 1 8.3E-02
CUI: C1112209
Disease: Abdominal Infection
Abdominal Infection 		23 1 1 1.8E-02 1 0.33
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms 		13 0 2 4.4E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 4 1.2E-02 0 0
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci 		7 0 1 2.5E-02 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 1 1.6E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 9 9.6E-03 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 1 9.3E-03 0 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		2 0 1 2.9E-02 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 1 1.5E-02 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 1 1.6E-02 0 0
CUI: C4021095
Disease: Abnormal hypothalamus morphology
Abnormal hypothalamus morphology 		4 0 1 2.7E-02 0 0
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		22 0 1 1.8E-02 0 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		40 0 1 1.4E-02 0 0
CUI: C4025758
Disease: Abnormal myocardium morphology
Abnormal myocardium morphology 		19 0 1 1.9E-02 0 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology 		34 0 1 1.5E-02 0 0
CUI: C4023573
Disease: Abnormal number of permanent teeth
Abnormal number of permanent teeth 		9 0 1 2.4E-02 0 0
CUI: C0855742
Disease: Abnormal platelet morphology
Abnormal platelet morphology 		10 0 1 2.3E-02 0 0
CUI: C4477081
Disease: Abnormal serum dehydroepiandrosterone level
Abnormal serum dehydroepiandrosterone level 		1 0 1 2.9E-02 0 0
CUI: C4476625
Disease: Abnormal temper tantrums
Abnormal temper tantrums 		4 0 1 2.7E-02 0 0
CUI: C0854021
Disease: Abnormal visual field test
Abnormal visual field test 		4 0 1 2.7E-02 0 0