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: C0042111
Disease: Urticaria Pigmentosa
Urticaria Pigmentosa 		0 2 0 0 2 0.11
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0 114 0 0 2 1.5E-02
CUI: C0343115
Disease: Skin Mastocytoma
Skin Mastocytoma 		0 2 0 0 2 0.11
CUI: C0391970
Disease: Carcinoid tumor, malignant
Carcinoid tumor, malignant 		0 2 0 0 2 0.11
CUI: C0413235
Disease: Idiopathic anaphylaxis
Idiopathic anaphylaxis 		0 2 0 0 2 0.11
CUI: C0432562
Disease: Malignant lymphoma of spleen
Malignant lymphoma of spleen 		0 2 0 0 2 0.11
CUI: C3853548
Disease: Pdgfra-Associated Chronic Eosinophilic Leukemia
Pdgfra-Associated Chronic Eosinophilic Leukemia 		0 2 0 0 2 0.11
CUI: C4267893
Disease: Monoclonal mast cell activation syndrome
Monoclonal mast cell activation syndrome 		0 2 0 0 2 0.11
CUI: C4749053
Disease: MASTOCYTOSIS, SYSTEMIC, SOMATIC
MASTOCYTOSIS, SYSTEMIC, SOMATIC 		0 1 0 0 1 5.3E-02
CUI: C4749271
Disease: Aleukemic mast cell leukemia
Aleukemic mast cell leukemia 		0 2 0 0 2 0.11
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 1 1.5E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 1 1.5E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 1.6E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 1 1.6E-03 0 0
CUI: C0005938
Disease: Bone Density
Bone Density 		138 0 1 1.7E-03 0 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		127 0 1 1.7E-03 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 1 1.7E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 1.7E-03 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 1 1.7E-03 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 1 1.8E-03 0 0
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		104 0 1 1.8E-03 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 1 1.8E-03 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 1 1.8E-03 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 1 1.8E-03 0 0
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		91 0 1 1.8E-03 0 0