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: C1843108
Disease: Short palm
Short palm 		110 0 1 2.3E-03 0 0
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		109 0 1 2.3E-03 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 1 2.3E-03 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 1 2.3E-03 0 0
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		104 0 1 2.3E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 2.3E-03 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 1 2.3E-03 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 1 2.3E-03 0 0
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 0 1 2.3E-03 0 0
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		92 0 1 2.4E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 2.4E-03 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 1 2.4E-03 0 0
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		85 0 1 2.4E-03 0 0
CUI: C0015310
Disease: Exotropia
Exotropia 		78 0 1 2.4E-03 0 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		77 0 1 2.4E-03 0 0
CUI: C0202202
Disease: Protein measurement
Protein measurement 		75 422 1 2.5E-03 1 1.9E-03
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		75 0 1 2.5E-03 0 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		74 0 1 2.5E-03 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 2.5E-03 0 0
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		71 0 1 2.5E-03 0 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		71 0 1 2.5E-03 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 2.5E-03 0 0
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis 		69 0 1 2.5E-03 0 0
CUI: C0423867
Disease: Fine hair
Fine hair 		69 0 1 2.5E-03 0 0
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		69 0 1 2.5E-03 0 0