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: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis
237 0 49 0.13 0 0
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism
113 0 34 0.13 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney
121 0 34 0.13 0 0
CUI: C1844562
Disease: Medial flaring of the eyebrow
Medial flaring of the eyebrow
28 0 23 0.12 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
391 0 62 0.12 0 0
CUI: C0521525
Disease: Short neck
Short neck
288 0 50 0.12 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers
171 0 37 0.12 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers
92 0 28 0.11 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
223 0 41 0.11 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
180 0 36 0.11 0 0
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary
44 0 22 0.11 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
211 411 37 0.10 2 4.8E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
429 0 56 0.10 0 0
Aplasia/Hypoplasia of the cerebellum
116 0 27 9.9E-02 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
86 0 24 9.8E-02 0 0
Delayed speech and language development
560 192 65 9.6E-02 1 5.1E-03
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
186 0 32 9.5E-02 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
227 0 35 9.3E-02 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
306 0 41 9.2E-02 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
427 0 49 8.7E-02 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
410 0 47 8.6E-02 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal
158 0 27 8.6E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus
716 0 71 8.6E-02 0 0
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder)
20 0 16 8.6E-02 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
505 0 54 8.5E-02 0 0