Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Carbohydrate Metabolism, Inborn Errors
1 0 1 0.12 0 0
CUI: C0858906
Disease: Infection pyogenic
Infection pyogenic
1 0 1 0.12 0 0
CUI: C1389273
Disease: Lesions in the basal ganglia
Lesions in the basal ganglia
1 0 1 0.12 0 0
Opacification of the corneal epithelium
1 0 1 0.12 0 0
CUI: C2827432
Disease: Bile Acid Synthesis Defect
Bile Acid Synthesis Defect
1 0 1 0.12 0 0
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
1 0 1 0.12 0 0
GLYCOGEN CONTENT IN SKELETAL MUSCLE, INCREASED
1 0 1 0.12 0 0
Congenital bile acid synthesis defect type 3
1 0 1 0.12 0 0
CUI: C0015938
Disease: Fetal Macrosomia
Fetal Macrosomia
2 0 1 0.11 0 0
CUI: C0235840
Disease: Neonatal diarrhea
Neonatal diarrhea
2 0 1 0.11 0 0
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
2 0 1 0.11 0 0
2,4-Dienoyl-CoA Reductase Deficiency
2 0 1 0.11 0 0
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12
2 0 1 0.11 0 0
Macrothrombocytopenia-Stomatocytosis, Mediterranean
2 0 1 0.11 0 0
Bile Acid Synthesis Defect, Congenital, 3
2 0 1 0.11 0 0
DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE
2 0 1 0.11 0 0
DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE
2 0 1 0.11 0 0
CUI: C0858959
Disease: Finger spasticity
Finger spasticity
3 0 1 1.0E-01 0 0
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
3 0 1 1.0E-01 0 0
CUI: C1859162
Disease: Neonatal cholestatic liver disease
Neonatal cholestatic liver disease
3 0 1 1.0E-01 0 0
CUI: C3151952
Disease: 3-Methylglutaric aciduria
3-Methylglutaric aciduria
3 0 1 1.0E-01 0 0
Increased HDL cholesterol concentration
3 0 1 1.0E-01 0 0
CUI: C0221252
Disease: Eruptive xanthoma
Eruptive xanthoma
4 0 1 9.1E-02 0 0
CUI: C0302164
Disease: Tuberous xanthoma
Tuberous xanthoma
4 0 1 9.1E-02 0 0
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency
4 0 1 9.1E-02 0 0