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: C1854988
Disease: Molybdenum Cofactor Deficiency, Complementation Group A
Molybdenum Cofactor Deficiency, Complementation Group A 		2 0 2 0.20 0 0
CUI: C3281192
Disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		2 7 2 0.20 2 0.29
CUI: C3810487
Disease: Increased urinary hypoxanthine
Increased urinary hypoxanthine 		2 0 2 0.20 0 0
CUI: C4025151
Disease: Increased bone density with cystic changes
Increased bone density with cystic changes 		2 0 2 0.20 0 0
CUI: C4025515
Disease: Cortical subperiosteal resorption of humeral metaphyses
Cortical subperiosteal resorption of humeral metaphyses 		2 0 2 0.20 0 0
CUI: C4225384
Disease: OPTIC ATROPHY 9
OPTIC ATROPHY 9 		2 0 2 0.20 0 0
CUI: C0220988
Disease: Xanthinuria
Xanthinuria 		3 0 2 0.18 0 0
CUI: C1848431
Disease: Xanthine nephrolithiasis
Xanthine nephrolithiasis 		3 0 2 0.18 0 0
CUI: C1864105
Disease: Low urinary cyclic AMP response to PTH administration
Low urinary cyclic AMP response to PTH administration 		3 0 2 0.18 0 0
CUI: C3806447
Disease: Increased urinary taurine
Increased urinary taurine 		3 0 2 0.18 0 0
CUI: C0151940
Disease: Hypocalcemic tetany
Hypocalcemic tetany 		4 0 2 0.17 0 0
CUI: C0342198
Disease: Thyrotoxicosis due to pituitary thyroid hormone resistance
Thyrotoxicosis due to pituitary thyroid hormone resistance 		4 0 2 0.17 0 0
CUI: C4551853
Disease: Diaphyseal sclerosis
Diaphyseal sclerosis 		6 0 2 0.14 0 0
CUI: C1827700
Disease: Luxation of lens
Luxation of lens 		7 0 2 0.13 0 0
CUI: C2932715
Disease: Pseudohypoparathyroidism Type 1B
Pseudohypoparathyroidism Type 1B 		8 0 2 0.12 0 0
CUI: C4022919
Disease: Appendicular hypotonia
Appendicular hypotonia 		8 8 2 0.12 2 0.25
CUI: C1449843
Disease: Pseudohypoaldosteronism, Type I, Autosomal Recessive
Pseudohypoaldosteronism, Type I, Autosomal Recessive 		10 0 2 0.11 0 0
CUI: C2713447
Disease: Hyperpotassemia and Hypertension, Familial
Hyperpotassemia and Hypertension, Familial 		10 0 2 0.11 0 0
CUI: C1855841
Disease: Hypocalcemic seizures
Hypocalcemic seizures 		11 0 2 0.11 0 0
CUI: C0016064
Disease: Fibrous Dysplasia, Monostotic
Fibrous Dysplasia, Monostotic 		1 0 1 1.0E-01 0 0
CUI: C0265593
Disease: Brachymetacarpia
Brachymetacarpia 		1 0 1 1.0E-01 0 0
CUI: C0281952
Disease: Pseudohypothyroidism
Pseudohypothyroidism 		1 0 1 1.0E-01 0 0
CUI: C1291266
Disease: Deficiency of aldehyde oxidase
Deficiency of aldehyde oxidase 		1 0 1 1.0E-01 0 0
CUI: C1707332
Disease: Cellular Myxoma
Cellular Myxoma 		1 0 1 1.0E-01 0 0
CUI: C1838868
Disease: Corticospinal tract atrophy
Corticospinal tract atrophy 		1 0 1 1.0E-01 0 0