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: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 67 166 0.16 10 8.0E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 217 0.16 3 1.9E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 34 153 0.16 3 3.0E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 248 0.15 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 262 0.15 3 8.4E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 182 0.15 1 6.5E-03
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 152 0.15 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 165 0.15 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 267 0.14 0 0
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		977 0 227 0.14 0 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 307 0.14 2 4.8E-03
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		508 121 169 0.14 1 5.3E-03
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		549 69 170 0.14 3 2.2E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 158 0.14 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 124 208 0.14 1 5.2E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 188 0.13 1 2.5E-03
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 152 0.13 1 7.8E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 139 0.13 5 1.6E-02
CUI: C0497327
Disease: Dementia
Dementia 		816 176 188 0.13 2 8.3E-03
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 140 0.13 1 8.5E-03
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		1515 85 261 0.12 2 1.3E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 135 0.12 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 144 0.12 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 215 0.12 8 2.0E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 177 0.11 0 0