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: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 2 1.0E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		42 0 3 1.5E-02 0 0
CUI: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding 		9 0 1 5.8E-03 0 0
CUI: C4021095
Disease: Abnormal hypothalamus morphology
Abnormal hypothalamus morphology 		4 0 1 6.0E-03 0 0
CUI: C1855755
Disease: Abnormal immunoglobulin level
Abnormal immunoglobulin level 		6 0 1 5.9E-03 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		6 0 1 5.9E-03 0 0
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		22 0 3 1.6E-02 0 0
CUI: C0240083
Disease: Abnormal joint morphology
Abnormal joint morphology 		6 0 1 5.9E-03 0 0
CUI: C4073168
Disease: Abnormal lactate dehydrogenase activity
Abnormal lactate dehydrogenase activity 		19 0 1 5.5E-03 0 0
CUI: C3875179
Disease: Abnormal lipid deposits
Abnormal lipid deposits 		1 0 1 6.1E-03 0 0
CUI: C1865412
Disease: Abnormal lower motor neuron morphology
Abnormal lower motor neuron morphology 		23 0 15 8.7E-02 0 0
CUI: C0278097
Disease: Abnormal male sexual function
Abnormal male sexual function 		12 0 5 2.9E-02 0 0
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		24 0 3 1.6E-02 0 0
CUI: C4014650
Disease: Abnormal mitochondrial morphology
Abnormal mitochondrial morphology 		13 0 7 4.1E-02 0 0
CUI: C4021031
Disease: Abnormal motor nerve conduction velocity
Abnormal motor nerve conduction velocity 		3 0 1 6.0E-03 0 0
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		14 0 1 5.6E-03 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 5 2.4E-02 0 0
CUI: C1866772
Disease: Abnormal nerve conduction velocity
Abnormal nerve conduction velocity 		5 0 2 1.2E-02 0 0
CUI: C4022739
Disease: Abnormal neuron morphology
Abnormal neuron morphology 		8 0 1 5.8E-03 0 0
CUI: C4023573
Disease: Abnormal number of permanent teeth
Abnormal number of permanent teeth 		9 0 1 5.8E-03 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 6 2.9E-02 0 0
CUI: C4025887
Disease: Abnormal oral cavity morphology
Abnormal oral cavity morphology 		12 0 1 5.7E-03 0 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		19 0 1 5.5E-03 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		40 0 1 4.9E-03 0 0
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		5 0 1 5.9E-03 0 0