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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 43 2.0E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 38 2.1E-02 0 0
CUI: C0028754
Disease: Obesity
Obesity 		2821 0 37 1.3E-02 0 0
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		141 0 37 0.25 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 36 0.14 1 8.2E-03
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 36 0.13 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 35 8.0E-02 1 9.8E-03
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 35 9.3E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 35 6.1E-02 1 4.5E-03
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 0 35 4.1E-02 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 34 0.11 0 0
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		151 0 33 0.20 0 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 0 33 0.11 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 33 7.5E-02 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 33 0.15 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 0 32 0.30 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 32 0.16 0 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		63 0 32 0.42 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 0 32 6.2E-02 0 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		121 0 32 0.24 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 32 0.14 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 32 0.16 0 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 32 0.21 0 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		156 0 32 0.19 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 32 7.9E-02 0 0