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: C0221727
Disease: Pain in esophagus (finding)
Pain in esophagus (finding) 		1 0 1 0.14 0 0
CUI: C0234174
Disease: Sucking reflex
Sucking reflex 		1 0 1 0.14 0 0
CUI: C0234966
Disease: Astasia
Astasia 		1 0 1 0.14 0 0
CUI: C0580550
Disease: Lymphocyte count abnormal
Lymphocyte count abnormal 		1 1 1 0.14 1 0.50
CUI: C3806688
Disease: Solute carrier family 35 member A2 congenital disorder of glycosylation
Solute carrier family 35 member A2 congenital disorder of glycosylation 		1 12 1 0.14 1 7.7E-02
CUI: C4020941
Disease: Sclerosis of finger phalanx
Sclerosis of finger phalanx 		1 0 1 0.14 0 0
CUI: C4022589
Disease: Fatigable weakness of speech muscles
Fatigable weakness of speech muscles 		1 0 1 0.14 0 0
CUI: C4022943
Disease: Decreased galactosylation of N-linked protein glycosylation
Decreased galactosylation of N-linked protein glycosylation 		1 0 1 0.14 0 0
CUI: C4024638
Disease: Transient nephrotic syndrome
Transient nephrotic syndrome 		1 0 1 0.14 0 0
CUI: C4073157
Disease: Decreased CSF biopterin level
Decreased CSF biopterin level 		1 0 1 0.14 0 0
CUI: C4476572
Disease: Elevated brain N-acetyl aspartate level by MRS
Elevated brain N-acetyl aspartate level by MRS 		1 0 1 0.14 0 0
CUI: C4476790
Disease: Decreased CSF protein
Decreased CSF protein 		1 0 1 0.14 0 0
CUI: C4476805
Disease: Increased circulating thyroglobulin level
Increased circulating thyroglobulin level 		1 0 1 0.14 0 0
CUI: C4476891
Disease: Decreased CSF/serum albumin ratio
Decreased CSF/serum albumin ratio 		1 0 1 0.14 0 0
CUI: C4476893
Disease: Reduced brain glutamine level by MRS
Reduced brain glutamine level by MRS 		1 0 1 0.14 0 0
CUI: C4476932
Disease: Tarsal sclerosis
Tarsal sclerosis 		1 0 1 0.14 0 0
CUI: C4477005
Disease: Impaired oral bolus formation
Impaired oral bolus formation 		1 0 1 0.14 0 0
CUI: C0234650
Disease: Ocular flutter
Ocular flutter 		2 0 1 0.12 0 0
CUI: C0431928
Disease: Congenital overgrowth of lower limb
Congenital overgrowth of lower limb 		2 2 1 0.12 1 0.33
CUI: C0549400
Disease: Low APGAR score
Low APGAR score 		2 0 1 0.12 0 0
CUI: C0580316
Disease: Neutrophil count abnormal
Neutrophil count abnormal 		2 1 1 0.12 1 0.50
CUI: C1839972
Disease: Increased IgM level
Increased IgM level 		2 2 1 0.12 1 0.33
CUI: C3827733
Disease: Umbilical cord occlusion
Umbilical cord occlusion 		2 0 1 0.12 0 0
CUI: C4021199
Disease: EEG with focal epileptiform discharges
EEG with focal epileptiform discharges 		2 0 1 0.12 0 0
CUI: C4021755
Disease: Abnormality of midbrain morphology
Abnormality of midbrain morphology 		2 0 1 0.12 0 0