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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 1 2.0E-03 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 1 2.1E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 2.4E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 1 2.4E-03 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 1 2.4E-03 0 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		146 0 1 2.5E-03 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		144 0 1 2.5E-03 0 0
CUI: C0005938
Disease: Bone Density
Bone Density 		138 0 1 2.6E-03 0 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		137 0 1 2.6E-03 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 0 1 2.6E-03 0 0
CUI: C0018498
Disease: Hair Color
Hair Color 		130 0 1 2.6E-03 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 1 2.6E-03 0 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		123 0 1 2.7E-03 0 0
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		120 0 1 2.7E-03 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 1 2.7E-03 0 0
CUI: C0576226
Disease: Short foot
Short foot 		116 0 1 2.7E-03 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 1 2.7E-03 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 1 2.7E-03 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 0 1 2.8E-03 0 0
CUI: C1835884
Disease: Triangular face
Triangular face 		111 0 1 2.8E-03 0 0
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 1 2.8E-03 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		103 0 1 2.8E-03 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 1 2.8E-03 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 1 2.8E-03 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 1 2.9E-03 0 0