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: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 3.4E-03 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 1 3.4E-03 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 1 3.4E-03 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 1 3.4E-03 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 1 3.4E-03 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 1 3.5E-03 0 0
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell 		218 0 1 3.5E-03 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 3.6E-03 0 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 0 1 3.6E-03 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 1 3.6E-03 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 0 1 3.6E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 3.6E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 2 3.7E-03 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 0 1 3.8E-03 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 1 3.8E-03 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 1 3.9E-03 0 0
CUI: C0205699
Disease: Carcinomatosis
Carcinomatosis 		186 0 1 4.0E-03 0 0
CUI: C0271183
Disease: Severe myopia
Severe myopia 		184 0 1 4.0E-03 0 0
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		182 0 1 4.0E-03 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 0 1 4.0E-03 0 0
CUI: C0042834
Disease: Vital capacity
Vital capacity 		430 0 2 4.0E-03 0 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		181 0 1 4.0E-03 0 0
CUI: C0005890
Disease: Body Height
Body Height 		1903 0 8 4.1E-03 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 1 4.1E-03 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 1 4.1E-03 0 0