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: C0272292
Disease: Acute idiopathic thrombocytopenic purpura
Acute idiopathic thrombocytopenic purpura 		0 1 0 0 1 1.8E-02
CUI: C0741585
Disease: BODY ACHE
BODY ACHE 		0 1 0 0 1 1.8E-02
CUI: C1282365
Disease: Mixed type cataract
Mixed type cataract 		0 1 0 0 1 1.8E-02
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		197 0 1 2.0E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 1 2.2E-03 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 1 2.3E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 2.3E-03 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 1 2.3E-03 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 1 2.4E-03 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 0 1 2.4E-03 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 1 2.4E-03 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 1 2.4E-03 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 1 2.4E-03 0 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		112 0 1 2.4E-03 0 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		110 0 1 2.4E-03 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 1 2.5E-03 0 0
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		96 0 1 2.5E-03 0 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 0 1 2.5E-03 0 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 0 1 2.5E-03 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 1 2.5E-03 0 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 0 1 2.5E-03 0 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 0 1 2.6E-03 0 0
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		86 0 1 2.6E-03 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 0 1 2.6E-03 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 1 2.6E-03 0 0