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: C0349588
Disease: Short stature
Short stature 		1127 292 229 0.17 4 1.3E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 117 0.17 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 107 0.17 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 85 0.17 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 90 0.17 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 94 0.17 3 6.7E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 19 137 0.16 1 2.1E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 181 0.16 4 2.5E-02
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 91 0.16 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 106 0.16 5 7.5E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 143 0.16 7 8.9E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 236 0.16 1 9.5E-03
CUI: C0017601
Disease: Glaucoma
Glaucoma 		770 198 167 0.16 1 4.4E-03
CUI: C1854114
Disease: Short nose
Short nose 		265 23 96 0.16 2 4.0E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 89 0.16 2 4.7E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 192 0.16 3 5.0E-03
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 141 0.16 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 21 89 0.16 1 2.0E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 203 0.16 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 89 0.16 0 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 83 0.16 2 4.3E-02
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		253 18 92 0.16 1 2.2E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 95 0.15 6 9.7E-02
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 14 75 0.15 2 4.9E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 0 112 0.15 0 0