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: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 0 22 8.7E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 46 8.6E-02 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 105 17 8.6E-02 6 4.2E-02
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 24 8.5E-02 0 0
CUI: C1836047
Disease: Long face
Long face 		182 0 29 8.5E-02 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 27 8.5E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 93 8.4E-02 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 9 17 8.3E-02 3 6.1E-02
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		85 0 21 8.3E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 47 8.3E-02 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 25 8.3E-02 0 0
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		113 0 23 8.3E-02 0 0
CUI: C0302142
Disease: Deformity
Deformity 		350 0 41 8.2E-02 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 47 8.2E-02 0 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		183 0 28 8.2E-02 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 24 37 8.1E-02 1 1.5E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 37 8.1E-02 0 0
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		26 0 16 8.1E-02 0 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		67 0 19 8.1E-02 0 0
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		175 0 27 8.0E-02 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 41 8.0E-02 0 0
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		42 0 17 8.0E-02 0 0
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		29 116 16 8.0E-02 1 6.3E-03
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		16 0 15 7.9E-02 0 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 43 7.9E-02 0 0