Source: ALL
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: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		36 0 21 0.32 0 0
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		16 0 15 0.29 0 0
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system 		50 0 21 0.26 0 0
CUI: C0018564
Disease: Hand deformities
Hand deformities 		60 0 21 0.23 0 0
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		86 0 24 0.21 0 0
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		34 0 13 0.18 0 0
CUI: C0030232
Disease: Pallor
Pallor 		124 0 25 0.17 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 22 0.15 0 0
CUI: C0542035
Disease: Erythroid hypoplasia
Erythroid hypoplasia 		14 0 8 0.14 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 21 0.12 0 0
CUI: C0858867
Disease: Reticulocytopenia
Reticulocytopenia 		17 0 7 0.11 0 0
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1 		12 0 6 0.11 0 0
CUI: C0001824
Disease: Agranulocytosis
Agranulocytosis 		55 0 10 0.10 0 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 0 23 0.10 0 0
CUI: C2931245
Disease: Bone Marrow failure syndromes
Bone Marrow failure syndromes 		41 0 7 8.2E-02 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 22 7.5E-02 0 0
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia 		38 0 6 7.2E-02 0 0
CUI: C2981142
Disease: Refractory anemia, without ringed sideroblasts, without excess blasts
Refractory anemia, without ringed sideroblasts, without excess blasts 		38 0 6 7.2E-02 0 0
CUI: C0302845
Disease: MCV - raised
MCV - raised 		12 0 4 6.8E-02 0 0
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		93 0 9 6.7E-02 0 0
CUI: C0238644
Disease: Anemia, severe
Anemia, severe 		65 0 7 6.4E-02 0 0
CUI: C0034902
Disease: Pure Red-Cell Aplasia
Pure Red-Cell Aplasia 		49 0 6 6.4E-02 0 0
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		49 0 6 6.4E-02 0 0
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		36 0 5 6.1E-02 0 0
CUI: C4022547
Disease: Elevated red cell adenosine deaminase activity
Elevated red cell adenosine deaminase activity 		3 0 3 5.9E-02 0 0