Source: BEFREE ×
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: C4040739
Disease: 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome 		4 0 2 4.7E-04 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		4 0 1 2.3E-04 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		5 0 4 9.4E-04 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 6 1.4E-03 0 0
CUI: C0432481
Disease: 46, XX true hermaphrodite
46, XX true hermaphrodite 		2 0 1 2.3E-04 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 17 4.0E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 16 3.7E-03 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		2 0 1 2.3E-04 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		2 0 1 2.3E-04 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		9 0 6 1.4E-03 0 0
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome 		1 0 1 2.3E-04 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 6 3 7.0E-04 3 3.5E-03
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		8 5 6 1.4E-03 1 1.2E-03
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 1 31 7.2E-03 1 1.2E-03
CUI: C1868355
Disease: 6-Phosphogluconolactonase Deficiency
6-Phosphogluconolactonase Deficiency 		1 0 1 2.3E-04 0 0
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		3 0 2 4.7E-04 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 10 28 6.6E-03 2 2.3E-03
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		33 0 17 4.0E-03 0 0
CUI: C0265265
Disease: Aase syndrome
Aase syndrome 		1 0 1 2.3E-04 0 0
CUI: C1838099
Disease: ABCD syndrome
ABCD syndrome 		1 0 1 2.3E-04 0 0
CUI: C0000727
Disease: Abdomen, Acute
Abdomen, Acute 		2 0 1 2.3E-04 0 0
CUI: C0243001
Disease: Abdominal Abscess
Abdominal Abscess 		4 0 2 4.7E-04 0 0
CUI: C0549357
Disease: Abdominal adhesions
Abdominal adhesions 		6 0 6 1.4E-03 0 0
CUI: C0398356
Disease: Abdominal aortic atherosclerosis
Abdominal aortic atherosclerosis 		2 0 1 2.3E-04 0 0
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating 		10 0 6 1.4E-03 0 0