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: C0268275
Disease: Tay-Sachs Disease, AB Variant
Tay-Sachs Disease, AB Variant 		0 7 0 0 1 2.2E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 1.7E-03 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 1 1.7E-03 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 1 1.8E-03 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 1 1.9E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 1 2.0E-03 0 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		148 0 1 2.0E-03 0 0
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries 		144 0 1 2.0E-03 0 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		142 0 1 2.0E-03 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 1 2.0E-03 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 0 1 2.0E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 2.0E-03 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 0 1 2.0E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 2.0E-03 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 1 2.1E-03 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 1 2.1E-03 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 1 2.1E-03 0 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		110 0 1 2.1E-03 0 0
CUI: C1843108
Disease: Short palm
Short palm 		110 0 1 2.1E-03 0 0
CUI: C0575802
Disease: Small hand
Small hand 		108 0 1 2.1E-03 0 0
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		104 0 1 2.2E-03 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 1 2.2E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 2.2E-03 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 1 2.2E-03 0 0
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		102 0 1 2.2E-03 0 0