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: C1854301
Disease: Motor delay
Motor delay
384 0 365 0.89 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
955 0 234 0.21 0 0
Delayed speech and language development
560 0 155 0.19 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
340 0 106 0.17 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
429 0 114 0.16 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
967 0 182 0.15 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
497 0 114 0.15 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
385 0 96 0.14 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex
201 0 73 0.14 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
595 0 121 0.14 0 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
169 0 68 0.14 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
169 0 67 0.14 0 0
CUI: C0033377
Disease: Ptosis
Ptosis
607 0 118 0.13 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
199 0 69 0.13 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
850 0 144 0.13 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
251 0 74 0.13 0 0
CUI: C1848207
Disease: Poor speech
Poor speech
208 0 69 0.13 0 0
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis
151 0 62 0.13 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
312 0 80 0.13 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
261 0 74 0.13 0 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine
155 0 62 0.13 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
536 87 105 0.13 1 1.1E-02
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis
149 0 61 0.13 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
271 0 74 0.13 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
1825 553 247 0.13 1 1.8E-03