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: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 1 2.1E-03 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 1 2.1E-03 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 1 2.2E-03 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 1 2.2E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 0 1 2.3E-03 0 0
CUI: C0003578
Disease: Apnea
Apnea 		262 0 1 2.3E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 1 2.4E-03 0 0
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		250 0 1 2.4E-03 0 0
CUI: C0489786
Disease: Height
Height 		249 0 1 2.4E-03 0 0
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		247 0 1 2.4E-03 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 1 2.6E-03 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 1 2.6E-03 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 1 2.6E-03 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 1 2.6E-03 0 0
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		210 0 1 2.7E-03 0 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		210 0 1 2.7E-03 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 1 2.7E-03 0 0
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		208 0 1 2.7E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 2.7E-03 0 0
CUI: C0150055
Disease: Chronic pain
Chronic pain 		207 0 1 2.7E-03 0 0
CUI: C0040420
Disease: Tonometry
Tonometry 		206 0 1 2.7E-03 0 0
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		196 0 1 2.8E-03 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 0 1 2.8E-03 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 1 2.9E-03 0 0
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		179 0 1 2.9E-03 0 0