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: C1836047
Disease: Long face
Long face
182 12 15 5.9E-02 1 7.8E-03
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy
38 19 7 5.8E-02 4 3.0E-02
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
75 24 9 5.8E-02 4 2.9E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
351 49 24 5.8E-02 9 5.7E-02
CUI: C0086437
Disease: Joint laxity
Joint laxity
223 0 17 5.8E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
334 62 23 5.8E-02 4 2.3E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
942 164 56 5.7E-02 24 9.3E-02
Delayed speech and language development
556 192 35 5.7E-02 16 5.4E-02
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk
77 0 9 5.7E-02 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
133 27 12 5.7E-02 12 9.0E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
228 76 17 5.7E-02 4 2.1E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
284 39 20 5.7E-02 4 2.6E-02
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
98 38 10 5.6E-02 5 3.3E-02
CUI: C0521525
Disease: Short neck
Short neck
288 29 20 5.6E-02 1 6.8E-03
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
159 25 13 5.5E-02 5 3.6E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
141 14 12 5.5E-02 2 1.5E-02
CUI: C0240543
Disease: Bulbous nose
Bulbous nose
123 13 11 5.5E-02 2 1.6E-02
CUI: C0038379
Disease: Strabismus
Strabismus
682 85 40 5.5E-02 15 8.0E-02
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea
48 9 7 5.4E-02 3 2.4E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
954 579 53 5.4E-02 24 3.6E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
426 39 26 5.3E-02 11 7.5E-02
CUI: C0426415
Disease: Large nose
Large nose
70 7 8 5.3E-02 2 1.6E-02
CUI: C0008489
Disease: Chorea
Chorea
131 14 11 5.3E-02 4 3.1E-02
CUI: C0239676
Disease: High forehead
High forehead
211 17 15 5.3E-02 2 1.5E-02
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline
71 17 8 5.3E-02 2 1.5E-02