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: C4024678
Disease: Punctate vertebral calcifications
Punctate vertebral calcifications 		2 0 1 0.20 0 0
CUI: C4024689
Disease: Abnormality of the calcaneus
Abnormality of the calcaneus 		2 0 1 0.20 0 0
CUI: C4025309
Disease: Supernumerary vertebral ossification centers
Supernumerary vertebral ossification centers 		2 0 1 0.20 0 0
CUI: C4479548
Disease: SPECIFIC GRANULE DEFICIENCY 2
SPECIFIC GRANULE DEFICIENCY 2 		2 0 1 0.20 0 0
CUI: C4551556
Disease: SPECIFIC GRANULE DEFICIENCY 1
SPECIFIC GRANULE DEFICIENCY 1 		2 0 1 0.20 0 0
CUI: C0235983
Disease: Normochromic anemia
Normochromic anemia 		9 0 2 0.18 0 0
CUI: C0158698
Disease: Congenital malformation of the urinary system
Congenital malformation of the urinary system 		3 0 1 0.17 0 0
CUI: C0264324
Disease: Calcification of trachea
Calcification of trachea 		3 0 1 0.17 0 0
CUI: C1318550
Disease: Refractory anemia with excess blasts I
Refractory anemia with excess blasts I 		3 0 1 0.17 0 0
CUI: C1333043
Disease: Chronic Myelomonocytic Leukemia-1
Chronic Myelomonocytic Leukemia-1 		3 0 1 0.17 0 0
CUI: C1850558
Disease: Horizontal sacrum
Horizontal sacrum 		3 0 1 0.17 0 0
CUI: C1850968
Disease: Median cleft palate
Median cleft palate 		3 0 1 0.17 0 0
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		3 0 1 0.17 0 0
CUI: C4021241
Disease: Abnormal foot bone ossification
Abnormal foot bone ossification 		3 0 1 0.17 0 0
CUI: C4023039
Disease: Rhizomelic leg shortening
Rhizomelic leg shortening 		3 1 1 0.17 1 1.00
CUI: C4024595
Disease: Abnormal ossification involving the femoral head and neck
Abnormal ossification involving the femoral head and neck 		3 0 1 0.17 0 0
CUI: C4025828
Disease: Abnormality of the scapula
Abnormality of the scapula 		3 0 1 0.17 0 0
CUI: C0085577
Disease: Normocytic anemia
Normocytic anemia 		12 0 2 0.14 0 0
CUI: C1301365
Disease: Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease
Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease 		4 0 1 0.14 0 0
CUI: C1857697
Disease: Lip telangiectasia
Lip telangiectasia 		4 0 1 0.14 0 0
CUI: C2363280
Disease: Cervical auricle (disorder)
Cervical auricle (disorder) 		4 0 1 0.14 0 0
CUI: C0392678
Disease: Swallowing problem
Swallowing problem 		13 0 2 0.13 0 0
CUI: C0239574
Disease: Low grade fever
Low grade fever 		5 0 1 0.12 0 0
CUI: C1292773
Disease: Acute myeloid leukemia with multilineage dysplasia
Acute myeloid leukemia with multilineage dysplasia 		5 0 1 0.12 0 0
CUI: C1860105
Disease: Severe short-limb dwarfism
Severe short-limb dwarfism 		5 0 1 0.12 0 0