Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
5 0 3 0.60 0 0
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
7 0 3 0.43 0 0
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
Kohlschutter Tonz syndrome
8 0 3 0.38 0 0
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
8 0 3 0.38 0 0
CUI: C0267430
Disease: Noninfectious colitis
Noninfectious colitis
1 0 1 0.33 0 0
CUI: C0342728
Disease: 3-Methylglutaconic aciduria type 1
3-Methylglutaconic aciduria type 1
1 0 1 0.33 0 0
CUI: C0342970
Disease: Increased oxygen demand
Increased oxygen demand
1 0 1 0.33 0 0
CUI: C0345903
Disease: Anal skin tag
Anal skin tag
1 0 1 0.33 0 0
CUI: C1321275
Disease: Non-specific colitis
Non-specific colitis
1 0 1 0.33 0 0
CUI: C1332259
Disease: Adenocarcinoma of anal canal
Adenocarcinoma of anal canal
1 0 1 0.33 0 0
Colorectal High Grade Intraepithelial Neoplasia
1 0 1 0.33 0 0
2-Methylbutyryl-CoA Dehydrogenase Deficiency
1 0 1 0.33 0 0
CUI: C2198591
Disease: 2-methylbutyrylglycinuria
2-methylbutyrylglycinuria
1 0 1 0.33 0 0
3-@METHYLGLUTACONIC ACIDURIA, TYPE I
2 0 1 0.25 0 0
CUI: C0849888
Disease: psychological disturbance
psychological disturbance
2 0 1 0.25 0 0
CUI: C1332262
Disease: Anal canal squamous cell carcinoma
Anal canal squamous cell carcinoma
2 0 1 0.25 0 0
CUI: C0263888
Disease: Back disorder
Back disorder
3 0 1 0.20 0 0
CUI: C1112574
Disease: Granulomatous ileocolitis
Granulomatous ileocolitis
3 0 1 0.20 0 0
CUI: C1257843
Disease: pseudomembranous colitis
pseudomembranous colitis
3 0 1 0.20 0 0
CUI: C0156173
Disease: Functional diarrhea
Functional diarrhea
4 0 1 0.17 0 0
CUI: C0238106
Disease: Clostridium difficile colitis
Clostridium difficile colitis
4 0 1 0.17 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria
20 0 3 0.15 0 0
CUI: C0031019
Disease: Perianal abscess
Perianal abscess
5 0 1 0.14 0 0
Deficiency of butyryl-CoA dehydrogenase
21 0 3 0.14 0 0
Elevated plasma acylcarnitine levels
5 0 1 0.14 0 0