Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
7 0 6 0.67 0 0
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
Kohlschutter Tonz syndrome
8 0 6 0.60 0 0
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
5 0 4 0.44 0 0
Isobutyryl-CoA dehydrogenase deficiency
3 0 3 0.38 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria
20 0 4 0.17 0 0
CUI: C0001752
Disease: African swine fever
African swine fever
1 0 1 0.12 0 0
CUI: C0267430
Disease: Noninfectious colitis
Noninfectious colitis
1 0 1 0.12 0 0
CUI: C0282643
Disease: Smith-Lemli-Opitz Syndrome, Type I
Smith-Lemli-Opitz Syndrome, Type I
1 0 1 0.12 0 0
CUI: C0282644
Disease: Smith-Lemli-Opitz Syndrome, Type II
Smith-Lemli-Opitz Syndrome, Type II
1 0 1 0.12 0 0
CUI: C0342728
Disease: 3-Methylglutaconic aciduria type 1
3-Methylglutaconic aciduria type 1
1 0 1 0.12 0 0
CUI: C0342970
Disease: Increased oxygen demand
Increased oxygen demand
1 0 1 0.12 0 0
CUI: C0345903
Disease: Anal skin tag
Anal skin tag
1 0 1 0.12 0 0
CUI: C0796238
Disease: MENTAL RETARDATION, X-LINKED 31
MENTAL RETARDATION, X-LINKED 31
1 0 1 0.12 0 0
CUI: C1321275
Disease: Non-specific colitis
Non-specific colitis
1 0 1 0.12 0 0
CUI: C1332259
Disease: Adenocarcinoma of anal canal
Adenocarcinoma of anal canal
1 0 1 0.12 0 0
Colorectal High Grade Intraepithelial Neoplasia
1 0 1 0.12 0 0
CUI: C1849185
Disease: Elevated 7-dehydrocholesterol
Elevated 7-dehydrocholesterol
1 0 1 0.12 0 0
Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
1 0 1 0.12 0 0
2-Methylbutyryl-CoA Dehydrogenase Deficiency
1 0 1 0.12 0 0
CUI: C2198591
Disease: 2-methylbutyrylglycinuria
2-methylbutyrylglycinuria
1 0 1 0.12 0 0
7-Dehydrocholesterol Reductase Deficiency
1 0 1 0.12 0 0
CUI: C2931867
Disease: Dandy Walker cyst
Dandy Walker cyst
1 0 1 0.12 0 0
CUI: C4024270
Disease: Distally placed thumb
Distally placed thumb
1 0 1 0.12 0 0
Rudimentary postaxial polydactyly of hands
1 0 1 0.12 0 0
Cutaneous syndactyly between fingers 2 and 5
1 0 1 0.12 0 0