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: C0038940
Disease: Surgical Wound Dehiscence
Surgical Wound Dehiscence
1 0 1 0.33 0 0
CUI: C0234918
Disease: Morbilliform rash
Morbilliform rash
1 0 1 0.33 0 0
Hyper-IgD periodic fever syndrome (HIDS)
1 0 1 0.33 0 0
CUI: C1442958
Disease: Actinic porokeratosis
Actinic porokeratosis
1 0 1 0.33 0 0
CUI: C1835875
Disease: Normocytic hypoplastic anemia
Normocytic hypoplastic anemia
1 0 1 0.33 0 0
CUI: C1835881
Disease: Fluctuating hepatomegaly
Fluctuating hepatomegaly
1 0 1 0.33 0 0
CUI: C1835882
Disease: Fluctuating splenomegaly
Fluctuating splenomegaly
1 0 1 0.33 0 0
Porokeratosis, Disseminated Superficial Actinic, 3
1 6 1 0.33 2 6.1E-02
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3
1 0 1 0.33 0 0
CUI: C4748427
Disease: SQUALENE SYNTHASE DEFICIENCY
SQUALENE SYNTHASE DEFICIENCY
1 0 1 0.33 0 0
CUI: C0276871
Disease: Infection by Trypanosoma evansi
Infection by Trypanosoma evansi
2 0 1 0.25 0 0
CUI: C0278026
Disease: Aciduria
Aciduria
2 0 1 0.25 0 0
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D
12 33 3 0.25 14 0.29
CUI: C0406756
Disease: Keratolytic winter erythema
Keratolytic winter erythema
2 0 1 0.25 0 0
CUI: C0524912
Disease: Hepatitis, Chronic, Drug-Induced
Hepatitis, Chronic, Drug-Induced
2 0 1 0.25 0 0
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type
2 0 1 0.25 0 0
CUI: C0302319
Disease: Porokeratosis, Linear
Porokeratosis, Linear
3 0 1 0.20 0 0
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1
3 16 1 0.20 11 0.32
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia
3 0 1 0.20 0 0
CUI: C0009438
Disease: Common Bile Duct Calculi
Common Bile Duct Calculi
4 0 1 0.17 0 0
Late onset congenital adrenal hyperplasia
4 0 1 0.17 0 0
CUI: C3715147
Disease: Necrotising myositis
Necrotising myositis
4 0 1 0.17 0 0
CUI: C4302167
Disease: Autoimmune myopathy
Autoimmune myopathy
4 0 1 0.17 0 0
CUI: C0342731
Disease: Deficiency of mevalonate kinase
Deficiency of mevalonate kinase
20 23 3 0.15 15 0.41
CUI: C0270970
Disease: Reducing-body myopathy
Reducing-body myopathy
5 0 1 0.14 0 0