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: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior
135 0 1 3.6E-03 0 0
CUI: C0018498
Disease: Hair Color
Hair Color
130 0 1 3.7E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria
129 0 1 3.7E-03 0 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria
127 0 1 3.7E-03 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
127 0 1 3.7E-03 0 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
126 0 1 3.7E-03 0 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
123 0 1 3.8E-03 0 0
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media
120 0 1 3.8E-03 0 0
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
119 0 1 3.8E-03 0 0
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle
118 0 1 3.9E-03 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
118 0 1 3.9E-03 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE
117 0 1 3.9E-03 0 0
CUI: C0576226
Disease: Short foot
Short foot
116 0 1 3.9E-03 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities
115 0 1 3.9E-03 0 0
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder
114 0 1 3.9E-03 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness
112 0 1 4.0E-03 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination
112 0 1 4.0E-03 0 0
Congenital absence of kidneys syndrome
110 0 1 4.0E-03 0 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
109 0 1 4.0E-03 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures
105 0 1 4.1E-03 0 0
CUI: C0025995
Disease: Micromelia
Micromelia
104 0 1 4.1E-03 0 0
CUI: C1837142
Disease: Poor suck
Poor suck
103 0 1 4.1E-03 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin
101 0 1 4.1E-03 0 0
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
578 0 3 4.2E-03 0 0
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement
96 0 1 4.2E-03 0 0