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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 135 0.13 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 334 0.13 11 1.3E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 133 0.13 2 4.7E-03
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 21 200 0.13 1 2.8E-03
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 127 0.13 5 1.3E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 190 0.13 4 8.0E-03
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 131 0.13 2 5.5E-03
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 137 0.12 2 4.9E-03
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 109 0.12 3 8.0E-03
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 122 0.12 2 5.4E-03
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 136 0.12 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 541 136 0.12 3 3.4E-03
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 112 0.12 0 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 73 193 0.12 2 4.9E-03
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 129 0.12 3 7.5E-03
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 122 0.12 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 116 0.12 2 4.6E-03
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 24 106 0.11 1 2.8E-03
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 80 112 0.11 1 2.4E-03
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 37 122 0.11 2 5.4E-03
CUI: C0002871
Disease: Anemia
Anemia 		847 94 155 0.11 2 4.7E-03
CUI: C0521525
Disease: Short neck
Short neck 		288 29 97 0.10 1 2.7E-03
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		424 28 109 0.10 1 2.7E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 109 0.10 3 7.4E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		1075 276 167 0.10 1 1.6E-03