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: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 1 2.9E-03 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 1 2.9E-03 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 30 3.0E-03 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 1 3.1E-03 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 1 3.1E-03 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 0 1 3.1E-03 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 1 3.2E-03 0 0
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		283 0 1 3.2E-03 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 7 3.2E-03 0 0
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		272 0 1 3.3E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 3 3.3E-03 0 0
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		265 0 1 3.4E-03 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 1 3.4E-03 0 0
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		563 0 2 3.4E-03 0 0
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		1156 0 4 3.4E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 2 3.4E-03 0 0
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
Malignant Peripheral Nerve Sheath Tumor 		261 0 1 3.4E-03 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 1 3.4E-03 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 3 3.4E-03 0 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		255 0 1 3.5E-03 0 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 30 3.5E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 1 3.5E-03 0 0
CUI: C0456070
Disease: Growth delay
Growth delay 		244 0 1 3.6E-03 0 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 30 3.6E-03 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 1 3.6E-03 0 0