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: C0456909
Disease: Blindness
Blindness 		393 0 104 0.10 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 88 0.10 0 0
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		253 18 90 1.0E-01 1 2.8E-03
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 96 9.9E-02 2 5.3E-03
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 104 9.8E-02 1 2.7E-03
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 98 9.7E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 104 9.7E-02 1 1.0E-03
CUI: C0017601
Disease: Glaucoma
Glaucoma 		770 198 133 9.7E-02 2 3.8E-03
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 80 9.6E-02 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 0 114 9.6E-02 0 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		549 69 113 9.6E-02 2 5.0E-03
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 100 9.5E-02 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 105 9.5E-02 2 5.0E-03
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		510 56 107 9.4E-02 2 5.1E-03
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 107 9.3E-02 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 90 9.1E-02 0 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 197 9.1E-02 3 4.4E-03
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 12 79 9.0E-02 2 5.8E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 109 9.0E-02 1 2.5E-03
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 79 8.9E-02 1 2.8E-03
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 86 8.9E-02 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 92 8.9E-02 1 2.6E-03
CUI: C0027092
Disease: Myopia
Myopia 		490 167 100 8.8E-02 4 8.0E-03
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 83 8.8E-02 0 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		615 42 110 8.8E-02 1 2.6E-03