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 7.7E-02 0 0
CUI: C0852698
Disease: 17,20-desmolase deficiency
17,20-desmolase deficiency 		1 0 1 0.25 0 0
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		4 0 1 0.14 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 1.7E-02 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 1 8.3E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 1 3.1E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 2.2E-02 0 0
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom 		17 0 1 5.0E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 1 1.1E-03 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 1 1.6E-02 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		40 0 1 2.3E-02 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 1 4.2E-02 0 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		35 0 1 2.6E-02 0 0
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior 		19 0 1 4.5E-02 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		96 0 1 1.0E-02 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 1 5.7E-03 0 0
CUI: C0391870
Disease: Abnormality of red blood cells
Abnormality of red blood cells 		2 0 1 0.20 0 0
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature 		24 0 1 3.7E-02 0 0
CUI: C4025822
Disease: Abnormality of the parathyroid gland
Abnormality of the parathyroid gland 		2 0 1 0.20 0 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		148 0 1 6.6E-03 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 1 7.7E-03 0 0
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		89 0 1 1.1E-02 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		205 0 2 9.7E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 4.3E-03 0 0
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		64 0 1 1.5E-02 0 0