Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
3 0 2 0.25 0 0
CUI: C0280745
Disease: secondary myelodysplastic syndromes
secondary myelodysplastic syndromes
11 0 3 0.20 0 0
Oculodigitoesophagoduodenal syndrome
6 0 2 0.18 0 0
CUI: C4744720
Disease: High Risk Acute Myeloid Leukemia
High Risk Acute Myeloid Leukemia
6 0 2 0.18 0 0
Acute panmyelosis with myelofibrosis
8 0 2 0.15 0 0
CUI: C0410652
Disease: Cervical spine instability
Cervical spine instability
1 0 1 0.14 0 0
Undifferentiated type acute leukemia
1 0 1 0.14 0 0
Precursor B-lymphoblastic lymphoma stage II
1 0 1 0.14 0 0
CUI: C1320638
Disease: Bone marrow myeloid dysplasia
Bone marrow myeloid dysplasia
9 0 2 0.14 0 0
CUI: C1336727
Disease: Testicular Sarcoma
Testicular Sarcoma
1 0 1 0.14 0 0
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency
9 0 2 0.14 0 0
CUI: C3280489
Disease: FEINGOLD SYNDROME 2
FEINGOLD SYNDROME 2
1 0 1 0.14 0 0
CUI: C4025295
Disease: Elbow hypertrichosis
Elbow hypertrichosis
1 0 1 0.14 0 0
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
1 0 1 0.14 0 0
CUI: C4280757
Disease: Fast-growing nails
Fast-growing nails
1 0 1 0.14 0 0
CUI: C4546640
Disease: Hypertrichosis cubiti short stature
Hypertrichosis cubiti short stature
1 0 1 0.14 0 0
Refractory anemia with excess blasts in transformation (clinical)
10 0 2 0.13 0 0
CUI: C0158621
Disease: Congenital subaortic stenosis
Congenital subaortic stenosis
2 0 1 0.12 0 0
CUI: C0267532
Disease: Diversion colitis
Diversion colitis
3 0 1 0.11 0 0
CUI: C0406587
Disease: Wrinkly skin syndrome
Wrinkly skin syndrome
3 0 1 0.11 0 0
CUI: C1269700
Disease: Caliectasis
Caliectasis
3 0 1 0.11 0 0
CUI: C1847363
Disease: Aplasia/Hypoplasia of the ribs
Aplasia/Hypoplasia of the ribs
3 0 1 0.11 0 0
Growth Deficiency and Mental Retardation with Facial Dysmorphism
4 0 1 1.0E-01 0 0
CUI: C0795816
Disease: Chromosome 6, monosomy 6q
Chromosome 6, monosomy 6q
5 0 1 9.1E-02 0 0
Acute myeloid leukemia with recurrent genetic abnormality
5 0 1 9.1E-02 0 0