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: C1836038
Disease: Poor head control
Poor head control 		162 0 1 2.8E-03 0 0
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		160 0 1 2.8E-03 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 1 2.8E-03 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 0 1 2.8E-03 0 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		155 0 1 2.9E-03 0 0
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		151 0 1 2.9E-03 0 0
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 0 1 2.9E-03 0 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		149 0 1 2.9E-03 0 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		148 0 1 2.9E-03 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 1 2.9E-03 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		144 0 1 2.9E-03 0 0
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries 		144 0 1 2.9E-03 0 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		142 0 1 3.0E-03 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 1 3.0E-03 0 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		137 0 1 3.0E-03 0 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		137 0 1 3.0E-03 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 1 3.0E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 3.1E-03 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 1 3.1E-03 0 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		123 0 1 3.1E-03 0 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		123 0 1 3.1E-03 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 1 3.2E-03 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 1 3.2E-03 0 0
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		120 0 1 3.2E-03 0 0
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		118 0 1 3.2E-03 0 0