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: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
393 0 365 0.89 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
955 164 237 0.22 5 2.6E-02
Delayed speech and language development
560 192 157 0.20 12 5.6E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
340 56 108 0.18 2 2.3E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
429 74 112 0.16 4 3.8E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
967 579 185 0.16 6 9.9E-03
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
497 70 118 0.15 1 9.7E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
595 57 128 0.15 5 5.8E-02
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
169 45 70 0.14 2 2.6E-02
CUI: C0234146
Disease: Absent reflex
Absent reflex
201 16 74 0.14 1 2.0E-02
CUI: C0033377
Disease: Ptosis
Ptosis
607 0 124 0.14 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
271 106 80 0.14 1 7.2E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
536 87 112 0.14 2 1.7E-02
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis
151 0 65 0.14 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
385 49 93 0.14 1 1.2E-02
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis
149 0 64 0.14 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
169 0 66 0.14 0 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine
155 0 64 0.13 0 0
CUI: C1848207
Disease: Poor speech
Poor speech
208 0 70 0.13 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
251 0 75 0.13 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
850 135 145 0.13 1 6.0E-03
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
199 29 68 0.13 1 1.6E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
261 0 75 0.13 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking
224 0 70 0.13 0 0
CUI: C0239234
Disease: Low set ears
Low set ears
489 64 100 0.13 2 2.1E-02