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: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita
13 3 10 0.18 1 7.1E-02
Inherited bone marrow failure syndrome
10 0 7 0.12 0 0
CUI: C2931245
Disease: Bone Marrow failure syndromes
Bone Marrow failure syndromes
38 0 10 0.12 0 0
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME
13 1 7 0.12 1 8.3E-02
CUI: C4531138
Disease: Short telomere length
Short telomere length
12 0 6 1.0E-01 0 0
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
182 6 20 9.3E-02 1 5.9E-02
CUI: C4727832
Disease: Telomere Syndrome
Telomere Syndrome
5 0 5 9.3E-02 0 0
CUI: C0004277
Disease: Tooth Attrition
Tooth Attrition
66 0 10 9.1E-02 0 0
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
47 0 7 7.4E-02 0 0
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
4 1 4 7.4E-02 1 8.3E-02
CUI: C0034902
Disease: Pure Red-Cell Aplasia
Pure Red-Cell Aplasia
48 0 7 7.4E-02 0 0
acute myeloid leukemia with multilineage dysplasia following myelodysplastic syndrome
49 0 7 7.3E-02 0 0
CUI: C0238644
Disease: Anemia, severe
Anemia, severe
65 0 8 7.2E-02 0 0
CUI: C0016038
Disease: Fibroelastosis
Fibroelastosis
7 0 4 7.0E-02 0 0
Refractory anemia, without ringed sideroblasts, without excess blasts
38 0 6 7.0E-02 0 0
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome
94 0 9 6.5E-02 0 0
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
45 0 6 6.5E-02 0 0
CUI: C0034535
Disease: Radiation Syndrome
Radiation Syndrome
13 0 4 6.3E-02 0 0
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
215 0 16 6.3E-02 0 0
Refractory anaemia with excess blasts
47 0 6 6.3E-02 0 0
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
135 0 11 6.2E-02 0 0
CUI: C0085090
Disease: Lymphoma, AIDS-Related
Lymphoma, AIDS-Related
35 0 5 6.0E-02 0 0
CUI: C0334660
Disease: Angioendotheliomatosis
Angioendotheliomatosis
18 0 4 5.9E-02 0 0
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
72 0 7 5.9E-02 0 0
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia
91 0 8 5.8E-02 0 0