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: C0154038
Disease: Benign neoplasm of thyroid gland
Benign neoplasm of thyroid gland 		0 4 0 0 1 2.5E-02
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		0 16 0 0 1 1.9E-02
CUI: C0346398
Disease: Mixed follicular and papillary thyroid carcinoma
Mixed follicular and papillary thyroid carcinoma 		0 8 0 0 1 2.3E-02
CUI: C1444844
Disease: Juvenile idiopathic arthritis, enthesitis related arthritis
Juvenile idiopathic arthritis, enthesitis related arthritis 		0 1 0 0 1 2.7E-02
CUI: C1861537
Disease: OROFACIAL CLEFT 1
OROFACIAL CLEFT 1 		0 11 0 0 1 2.1E-02
CUI: C0005890
Disease: Body Height
Body Height 		1903 0 1 5.1E-04 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 1 9.7E-04 0 0
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		717 0 1 1.3E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 1 1.3E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.5E-03 0 0
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		578 0 1 1.6E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.6E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 1 1.7E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 1 1.8E-03 0 0
CUI: C1305855
Disease: Body mass index
Body mass index 		1014 0 2 1.9E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 2 2.0E-03 0 0
CUI: C0042834
Disease: Vital capacity
Vital capacity 		430 746 1 2.0E-03 1 1.3E-03
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		401 0 1 2.2E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.2E-03 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 1 2.2E-03 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 1 2.5E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 1 2.6E-03 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 1 2.6E-03 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 1 2.7E-03 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 1 2.7E-03 0 0