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: C2047886
Disease: (Idiopathic) normal pressure hydrocephalus
(Idiopathic) normal pressure hydrocephalus 		14 0 8 0.26 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 1 9.2E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 1.3E-02 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 1 1.9E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 1.4E-02 0 0
CUI: C1142214
Disease: Abdominal cocoon
Abdominal cocoon 		1 0 1 4.0E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 2 6.2E-03 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 2 2.3E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 12 1.3E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 1 1.0E-02 0 0
CUI: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		18 0 2 4.9E-02 0 0
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		9 0 1 3.0E-02 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 1 1.5E-02 0 0
CUI: C1865412
Disease: Abnormal lower motor neuron morphology
Abnormal lower motor neuron morphology 		23 0 2 4.3E-02 0 0
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		24 0 3 6.5E-02 0 0
CUI: C4014650
Disease: Abnormal mitochondrial morphology
Abnormal mitochondrial morphology 		13 0 1 2.7E-02 0 0
CUI: C4022648
Disease: Abnormal muscle fiber dystrophin expression
Abnormal muscle fiber dystrophin expression 		1 0 1 4.0E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		58 0 1 1.2E-02 0 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		35 0 1 1.7E-02 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		17 0 1 2.4E-02 0 0
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior 		19 0 1 2.3E-02 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 1 2.6E-02 0 0
CUI: C4025723
Disease: Abnormal upper motor neuron morphology
Abnormal upper motor neuron morphology 		20 0 1 2.3E-02 0 0
CUI: C4025650
Disease: Abnormality of lipid metabolism
Abnormality of lipid metabolism 		1 0 1 4.0E-02 0 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		56 0 1 1.3E-02 0 0