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: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		3 0 3 0.60 0 0
CUI: C3281160
Disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 		7 0 4 0.50 0 0
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
Kohlschutter Tonz syndrome 		8 0 4 0.44 0 0
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		8 0 4 0.44 0 0
CUI: C0267430
Disease: Noninfectious colitis
Noninfectious colitis 		1 0 1 0.20 0 0
CUI: C0282643
Disease: Smith-Lemli-Opitz Syndrome, Type I
Smith-Lemli-Opitz Syndrome, Type I 		1 0 1 0.20 0 0
CUI: C0282644
Disease: Smith-Lemli-Opitz Syndrome, Type II
Smith-Lemli-Opitz Syndrome, Type II 		1 0 1 0.20 0 0
CUI: C0342728
Disease: 3-Methylglutaconic aciduria type 1
3-Methylglutaconic aciduria type 1 		1 0 1 0.20 0 0
CUI: C0342970
Disease: Increased oxygen demand
Increased oxygen demand 		1 0 1 0.20 0 0
CUI: C0345903
Disease: Anal skin tag
Anal skin tag 		1 0 1 0.20 0 0
CUI: C1321275
Disease: Non-specific colitis
Non-specific colitis 		1 0 1 0.20 0 0
CUI: C1332259
Disease: Adenocarcinoma of anal canal
Adenocarcinoma of anal canal 		1 0 1 0.20 0 0
CUI: C1333110
Disease: Colorectal High Grade Intraepithelial Neoplasia
Colorectal High Grade Intraepithelial Neoplasia 		1 0 1 0.20 0 0
CUI: C1849185
Disease: Elevated 7-dehydrocholesterol
Elevated 7-dehydrocholesterol 		1 0 1 0.20 0 0
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		1 0 1 0.20 0 0
CUI: C2198591
Disease: 2-methylbutyrylglycinuria
2-methylbutyrylglycinuria 		1 0 1 0.20 0 0
CUI: C2713347
Disease: 7-Dehydrocholesterol Reductase Deficiency
7-Dehydrocholesterol Reductase Deficiency 		1 0 1 0.20 0 0
CUI: C2931867
Disease: Dandy Walker cyst
Dandy Walker cyst 		1 0 1 0.20 0 0
CUI: C4025158
Disease: Rudimentary postaxial polydactyly of hands
Rudimentary postaxial polydactyly of hands 		1 0 1 0.20 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 4 0.19 0 0
CUI: C0342727
Disease: 3-@METHYLGLUTACONIC ACIDURIA, TYPE I
3-@METHYLGLUTACONIC ACIDURIA, TYPE I 		2 0 1 0.17 0 0
CUI: C0849888
Disease: psychological disturbance
psychological disturbance 		2 0 1 0.17 0 0
CUI: C1332262
Disease: Anal canal squamous cell carcinoma
Anal canal squamous cell carcinoma 		2 0 1 0.17 0 0
CUI: C1844731
Disease: Hypoplastic nasal tip
Hypoplastic nasal tip 		2 0 1 0.17 0 0
CUI: C1858545
Disease: Facial capillary hemangioma
Facial capillary hemangioma 		2 0 1 0.17 0 0