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: C4023771
Disease: Anterior pituitary dysgenesis
Anterior pituitary dysgenesis
1 1 1 1.00 1 0.14
Abnormal shape of the frontal region
2 2 1 0.50 1 0.12
Aplasia/Hypoplasia of the distal phalanx of the 5th toe
10 0 1 1.0E-01 0 0
Aplasia/Hypoplasia of the distal phalanx of the 5th finger
10 0 1 1.0E-01 0 0
CUI: C4024682
Disease: Hypoplastic fifth fingernail
Hypoplastic fifth fingernail
11 0 1 9.1E-02 0 0
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail
12 0 1 8.3E-02 0 0
CUI: C1839783
Disease: Large forehead
Large forehead
14 0 1 7.1E-02 0 0
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia
18 1 1 5.6E-02 1 0.14
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
20 0 1 5.0E-02 0 0
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G
20 0 1 5.0E-02 0 0
CUI: C1868577
Disease: Patella aplasia-hypoplasia
Patella aplasia-hypoplasia
20 0 1 5.0E-02 0 0
CUI: C4021801
Disease: Lacrimation abnormality
Lacrimation abnormality
29 0 1 3.4E-02 0 0
Abnormality of the intervertebral disk
30 0 1 3.3E-02 0 0
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts
31 0 1 3.2E-02 0 0
CUI: C0278076
Disease: Behavioral tic
Behavioral tic
31 0 1 3.2E-02 0 0
CUI: C0278803
Disease: Adenocarcinoma of small intestine
Adenocarcinoma of small intestine
34 0 1 2.9E-02 0 0
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure
34 3 1 2.9E-02 1 0.11
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair
35 0 1 2.9E-02 0 0
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum
38 0 1 2.6E-02 0 0
CUI: C0234518
Disease: Slurred speech
Slurred speech
39 10 1 2.6E-02 1 6.2E-02
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone
40 0 1 2.5E-02 0 0
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney
41 0 1 2.4E-02 0 0
CUI: C1839797
Disease: Deep philtrum
Deep philtrum
42 0 1 2.4E-02 0 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle
42 0 1 2.4E-02 0 0
Extramedullary Hematopoiesis (disorder)
52 0 1 1.9E-02 0 0