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: C1837463
Disease: Narrow face
Narrow face 		87 0 1 2.1E-03 0 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 0 1 2.1E-03 0 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		86 0 1 2.1E-03 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 1 2.1E-03 0 0
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		83 0 1 2.1E-03 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 1 2.1E-03 0 0
CUI: C0009421
Disease: Comatose
Comatose 		78 0 1 2.2E-03 0 0
CUI: C0015310
Disease: Exotropia
Exotropia 		78 0 1 2.2E-03 0 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		77 0 1 2.2E-03 0 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		77 0 1 2.2E-03 0 0
CUI: C0202202
Disease: Protein measurement
Protein measurement 		75 0 1 2.2E-03 0 0
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		74 0 1 2.2E-03 0 0
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		74 0 1 2.2E-03 0 0
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		74 0 1 2.2E-03 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 2.2E-03 0 0
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia 		72 0 1 2.2E-03 0 0
CUI: C0426415
Disease: Large nose
Large nose 		70 0 1 2.2E-03 0 0
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		70 0 1 2.2E-03 0 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		70 0 1 2.2E-03 0 0
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		69 0 1 2.2E-03 0 0
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		69 0 1 2.2E-03 0 0
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		69 0 1 2.2E-03 0 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		68 0 1 2.2E-03 0 0
CUI: C0562350
Disease: Hip circumference
Hip circumference 		68 0 1 2.2E-03 0 0
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		67 0 1 2.2E-03 0 0