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: C4023371
Disease: Proportionate tall stature
Proportionate tall stature 		1 0 1 1.00 0 0
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		2 0 1 0.50 0 0
CUI: C0740409
Disease: Psychotic behaviour
Psychotic behaviour 		3 0 1 0.33 0 0
CUI: C1969238
Disease: Widely spaced toes
Widely spaced toes 		3 0 1 0.33 0 0
CUI: C1835762
Disease: Widely-spaced maxillary central incisors
Widely-spaced maxillary central incisors 		7 0 1 0.14 0 0
CUI: C3809874
Disease: LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3 		7 0 1 0.14 0 0
CUI: C0014068
Disease: Encephalomalacia
Encephalomalacia 		8 0 1 0.12 0 0
CUI: C2826177
Disease: Acute myeloid leukemia with mutated NPM1
Acute myeloid leukemia with mutated NPM1 		8 0 1 0.12 0 0
CUI: C0282631
Disease: Facies
Facies 		10 0 1 1.0E-01 0 0
CUI: C0280745
Disease: secondary myelodysplastic syndromes
secondary myelodysplastic syndromes 		11 0 1 9.1E-02 0 0
CUI: C2960725
Disease: Invasive pituitary adenoma
Invasive pituitary adenoma 		15 0 1 6.7E-02 0 0
CUI: C4324477
Disease: Transformation to acute myeloid leukaemia
Transformation to acute myeloid leukaemia 		16 0 1 6.2E-02 0 0
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		19 0 1 5.3E-02 0 0
CUI: C1857479
Disease: Short columella
Short columella 		20 0 1 5.0E-02 0 0
CUI: C0376407
Disease: Granulomatous Slack Skin
Granulomatous Slack Skin 		22 0 1 4.5E-02 0 0
CUI: C0278882
Disease: Stage III Cutaneous Melanoma AJCC v6
Stage III Cutaneous Melanoma AJCC v6 		24 0 1 4.2E-02 0 0
CUI: C2938905
Disease: Central Nervous System Sensitization
Central Nervous System Sensitization 		32 0 1 3.1E-02 0 0
CUI: C0522631
Disease: Acute myeloid leukemia, minimal differentiation
Acute myeloid leukemia, minimal differentiation 		33 0 1 3.0E-02 0 0
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure 		34 0 1 2.9E-02 0 0
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		35 0 1 2.9E-02 0 0
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		36 0 1 2.8E-02 0 0
CUI: C2986703
Disease: Overgrowth Syndrome
Overgrowth Syndrome 		36 0 1 2.8E-02 0 0
CUI: C2826025
Disease: Mixed phenotype acute leukemia
Mixed phenotype acute leukemia 		37 0 1 2.7E-02 0 0
CUI: C0018273
Disease: Growth Disorders
Growth Disorders 		39 0 1 2.6E-02 0 0
CUI: C0024140
Disease: Lupus Erythematosus, Subacute Cutaneous
Lupus Erythematosus, Subacute Cutaneous 		39 0 1 2.6E-02 0 0