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: C1850083
Disease: Irregular ossification at anterior rib ends
Irregular ossification at anterior rib ends 		3 0 3 0.33 0 0
CUI: C4025630
Disease: Abnormal bone structure
Abnormal bone structure 		7 0 4 0.33 0 0
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		4 0 3 0.30 0 0
CUI: C0221016
Disease: Red blood cell disorder
Red blood cell disorder 		6 0 3 0.25 0 0
CUI: C1836320
Disease: Proximal femoral metaphyseal irregularity
Proximal femoral metaphyseal irregularity 		7 0 3 0.23 0 0
CUI: C1850087
Disease: Narrow sacroiliac notch
Narrow sacroiliac notch 		7 0 3 0.23 0 0
CUI: C3552526
Disease: Metaphyseal sclerosis
Metaphyseal sclerosis 		7 0 3 0.23 0 0
CUI: C0472772
Disease: Gamma thalassemia
Gamma thalassemia 		2 0 2 0.22 0 0
CUI: C1857180
Disease: Enlargement of the costochondral junction
Enlargement of the costochondral junction 		8 0 3 0.21 0 0
CUI: C0271995
Disease: HPFH deletion type
HPFH deletion type 		3 0 2 0.20 0 0
CUI: C2873756
Disease: Severe beta thalassemia
Severe beta thalassemia 		9 0 3 0.20 0 0
CUI: C0271986
Disease: delta beta^0^ Thalassemia
delta beta^0^ Thalassemia 		10 0 3 0.19 0 0
CUI: C1846154
Disease: Anterior rib cupping
Anterior rib cupping 		10 0 3 0.19 0 0
CUI: C0271985
Disease: Delta-Beta Thalassemia
Delta-Beta Thalassemia 		12 0 3 0.17 0 0
CUI: C0302845
Disease: MCV - raised
MCV - raised 		12 0 3 0.17 0 0
CUI: C4274391
Disease: Dominant beta-thalassemia
Dominant beta-thalassemia 		5 0 2 0.17 0 0
CUI: C0272087
Disease: Congenital Methemoglobinemia
Congenital Methemoglobinemia 		6 0 2 0.15 0 0
CUI: C0149887
Disease: Slipped Capital Femoral Epiphyses
Slipped Capital Femoral Epiphyses 		15 0 3 0.14 0 0
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		7 0 2 0.14 0 0
CUI: C0238159
Disease: Hemoglobin E disease
Hemoglobin E disease 		8 0 2 0.13 0 0
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		27 0 4 0.12 0 0
CUI: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding 		9 0 2 0.12 0 0
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia 		20 0 3 0.12 0 0
CUI: C0154089
Disease: Carcinoma in situ of penis
Carcinoma in situ of penis 		1 0 1 0.11 0 0
CUI: C0272080
Disease: Hemoglobin D disease
Hemoglobin D disease 		1 0 1 0.11 0 0