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: C0162296
Disease: Polyarthralgia
Polyarthralgia 		0 1 0 0 1 1.7E-02
CUI: C0878520
Disease: beta Thalassemia, heterozygous
beta Thalassemia, heterozygous 		0 2 0 0 2 3.3E-02
CUI: C1262483
Disease: Hereditary stomatocytosis
Hereditary stomatocytosis 		0 2 0 0 1 1.6E-02
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 1.7E-03 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 1 1.7E-03 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 1 1.7E-03 0 0
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		104 0 1 1.7E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 1.7E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 1 1.7E-03 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 0 1 1.7E-03 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 1 1.8E-03 0 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 0 1 1.8E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 1.8E-03 0 0
CUI: C0085632
Disease: Apathy
Apathy 		83 0 1 1.8E-03 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 1 1.8E-03 0 0
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		82 0 1 1.8E-03 0 0
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		82 0 1 1.8E-03 0 0
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		82 0 1 1.8E-03 0 0
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		80 0 1 1.8E-03 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 0 1 1.8E-03 0 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		77 0 1 1.8E-03 0 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		77 0 1 1.8E-03 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 1 1.8E-03 0 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		75 0 1 1.8E-03 0 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		74 0 1 1.8E-03 0 0