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: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		113 0 1 1.6E-03 0 0
CUI: C0575802
Disease: Small hand
Small hand 		108 0 1 1.6E-03 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 1 1.7E-03 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 1 1.7E-03 0 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 0 1 1.7E-03 0 0
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 0 1 1.7E-03 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 1 1.7E-03 0 0
CUI: C0239479
Disease: Round face
Round face 		88 0 1 1.7E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 1.7E-03 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 1 1.7E-03 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 0 1 1.7E-03 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 1 1.7E-03 0 0
CUI: C0231835
Disease: Tachypnea
Tachypnea 		82 0 1 1.7E-03 0 0
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		80 0 1 1.7E-03 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 0 1 1.7E-03 0 0
CUI: C0015310
Disease: Exotropia
Exotropia 		78 0 1 1.7E-03 0 0
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		78 0 1 1.7E-03 0 0
CUI: C1527344
Disease: Dysphonia
Dysphonia 		77 0 1 1.7E-03 0 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		77 0 1 1.7E-03 0 0
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		76 0 1 1.7E-03 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 1 1.7E-03 0 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 0 1 1.7E-03 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 1 1.7E-03 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 1.7E-03 0 0
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		71 0 1 1.7E-03 0 0