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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 29 6.0E-02 0 0
CUI: C1836767
Disease: Proximal lower limb amyotrophy
Proximal lower limb amyotrophy 		15 0 5 5.9E-02 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 13 5.9E-02 10 3.8E-02
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		74 15 8 5.7E-02 2 5.4E-02
CUI: C0152421
Disease: Macrotia
Macrotia 		188 0 14 5.6E-02 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 8 10 5.6E-02 2 6.7E-02
CUI: C0013132
Disease: Drooling
Drooling 		95 14 9 5.6E-02 2 5.6E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 17 5.5E-02 0 0
CUI: C0241237
Disease: Difficulty standing
Difficulty standing 		21 14 5 5.5E-02 2 5.6E-02
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 10 5.5E-02 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 13 5.5E-02 0 0
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		82 0 8 5.4E-02 0 0
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity 		43 0 6 5.4E-02 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 10 5.3E-02 0 0
CUI: C0006325
Disease: Bruxism
Bruxism 		24 0 5 5.3E-02 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 30 15 5.3E-02 3 5.9E-02
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 10 5.3E-02 0 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 10 9 5.3E-02 2 6.2E-02
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 7 6 5.3E-02 1 3.3E-02
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		86 0 8 5.2E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 25 5.2E-02 1 1.0E-02
CUI: C1306341
Disease: Mental handicap
Mental handicap 		26 0 5 5.2E-02 0 0
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		67 18 7 5.2E-02 2 5.0E-02
CUI: C0575802
Disease: Small hand
Small hand 		108 0 9 5.2E-02 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 0 10 5.2E-02 0 0