Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Reduced activity of N-acetylglucosaminyltransferase II
2 0 2 1.00 0 0
CUI: C3805255
Disease: Residual pain
Residual pain
1 0 1 0.50 0 0
CUI: C4225179
Disease: COWDEN SYNDROME 7
COWDEN SYNDROME 7
1 0 1 0.50 0 0
CUI: C0238158
Disease: Secondary hemochromatosis
Secondary hemochromatosis
6 0 2 0.33 0 0
Congenital dyserythropoietic anemia, type III
6 0 2 0.33 0 0
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3
2 0 1 0.33 0 0
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
2 0 1 0.33 0 0
CUI: C4025183
Disease: Macrocytic dyserythropoietic anemia
Macrocytic dyserythropoietic anemia
2 0 1 0.33 0 0
Congenital dyserythropoietic anemia, type I
8 0 2 0.25 0 0
Unilateral Multicystic Dysplastic Kidney
3 0 1 0.25 0 0
CUI: C1869116
Disease: ASTHMA, SUSCEPTIBILITY TO (finding)
ASTHMA, SUSCEPTIBILITY TO (finding)
4 0 1 0.20 0 0
CUI: C0002891
Disease: Anemia, Neonatal
Anemia, Neonatal
6 0 1 0.14 0 0
CUI: C1835580
Disease: Mild postnatal growth retardation
Mild postnatal growth retardation
6 0 1 0.14 0 0
CUI: C3666003
Disease: Transfusion dependent anaemia
Transfusion dependent anaemia
6 0 1 0.14 0 0
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
7 0 1 0.12 0 0
CUI: C0334263
Disease: Trichilemmoma
Trichilemmoma
8 0 1 0.11 0 0
CUI: C1832845
Disease: USHER SYNDROME, TYPE ID
USHER SYNDROME, TYPE ID
8 0 1 0.11 0 0
CUI: C4025896
Disease: Abnormality of the penis
Abnormality of the penis
8 0 1 0.11 0 0
Congenital dyserythropoietic anemia, type II
21 0 2 9.5E-02 0 0
CUI: C0678199
Disease: Anemia of inadequate production
Anemia of inadequate production
10 0 1 9.1E-02 0 0
CUI: C4021849
Disease: Conjunctival hamartoma
Conjunctival hamartoma
10 0 1 9.1E-02 0 0
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia
24 0 2 8.3E-02 0 0
CUI: C2051831
Disease: Pectus excavatum
Pectus excavatum
12 0 1 7.7E-02 0 0
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
13 0 1 7.1E-02 0 0
Congenital musculoskeletal anomalies
14 0 1 6.7E-02 0 0