Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
3 15 3 1.00 7 0.15
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4
2 2 2 0.67 2 5.0E-02
CUI: C1335667
Disease: Reactive Lymphocytosis
Reactive Lymphocytosis
1 0 1 0.33 0 0
CUI: C1335779
Disease: Retroperitoneal Lymphoma
Retroperitoneal Lymphoma
1 0 1 0.33 0 0
AIDS-related immunoblastic large cell lymphoma
1 0 1 0.33 0 0
CUI: C1848840
Disease: Bilateral radial aplasia
Bilateral radial aplasia
1 0 1 0.33 0 0
CUI: C1864153
Disease: SCHIZOPHRENIA 5
SCHIZOPHRENIA 5
1 0 1 0.33 0 0
CUI: C1969001
Disease: Shoulder muscle hypoplasia
Shoulder muscle hypoplasia
1 0 1 0.33 0 0
CUI: C4025300
Disease: Axial malrotation of the kidney
Axial malrotation of the kidney
1 0 1 0.33 0 0
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 2
2 0 1 0.25 0 0
CUI: C4025031
Disease: Aplasia/hypoplasia of the humerus
Aplasia/hypoplasia of the humerus
2 0 1 0.25 0 0
CUI: C1848850
Disease: Nevus flammeus of the forehead
Nevus flammeus of the forehead
4 0 1 0.17 0 0
CUI: C0340992
Disease: Cryoglobulinemic vasculitis
Cryoglobulinemic vasculitis
5 0 1 0.14 0 0
CUI: C1865571
Disease: Aplasia/Hypoplasia of the ulna
Aplasia/Hypoplasia of the ulna
6 0 1 0.12 0 0
Generalized hypopigmentation of hair
6 0 1 0.12 0 0
CUI: C4553088
Disease: Neurolymphomatosis
Neurolymphomatosis
6 0 1 0.12 0 0
CUI: C0016038
Disease: Fibroelastosis
Fibroelastosis
7 0 1 0.11 0 0
Squamous cell carcinoma of conjunctiva
7 0 1 0.11 0 0
CUI: C0152009
Disease: White blood cell abnormality
White blood cell abnormality
8 0 1 1.0E-01 0 0
CUI: C0031575
Disease: Phocomelia
Phocomelia
9 0 1 9.1E-02 0 0
CUI: C1836186
Disease: Fibular aplasia
Fibular aplasia
9 0 1 9.1E-02 0 0
CUI: C3267126
Disease: Trichodysplasia spinulosa
Trichodysplasia spinulosa
9 0 1 9.1E-02 0 0
CUI: C0206617
Disease: Cardiovirus Infections
Cardiovirus Infections
10 0 1 8.3E-02 0 0
CUI: C0425913
Disease: Uterus absent (finding)
Uterus absent (finding)
10 0 1 8.3E-02 0 0
CUI: C2698750
Disease: Pediatric follicular lymphoma
Pediatric follicular lymphoma
10 0 1 8.3E-02 0 0