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: 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
CUI: C1838916
Disease: ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET 		1 0 1 1.0E-01 0 0
CUI: C1839022
Disease: Striatonigral Degeneration, Infantile, Mitochondrial
Striatonigral Degeneration, Infantile, Mitochondrial 		1 0 1 1.0E-01 0 0
CUI: C1854989
Disease: Molybdenum Cofactor Deficiency, Complementation Group B
Molybdenum Cofactor Deficiency, Complementation Group B 		1 0 1 1.0E-01 0 0
CUI: C2675383
Disease: POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC
POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC 		1 0 1 1.0E-01 0 0
CUI: C3148695
Disease: Increased urinary thiosulfate
Increased urinary thiosulfate 		1 0 1 1.0E-01 0 0
CUI: C3275684
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 		1 0 1 1.0E-01 0 0
CUI: C4016140
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS 		1 0 1 1.0E-01 0 0
CUI: C4016603
Disease: SEIZURES AND LACTIC ACIDOSIS
SEIZURES AND LACTIC ACIDOSIS 		1 0 1 1.0E-01 0 0
CUI: C4023118
Disease: Decreased urinary urate
Decreased urinary urate 		1 0 1 1.0E-01 0 0
CUI: C4024097
Disease: Broad 1st metacarpal
Broad 1st metacarpal 		1 0 1 1.0E-01 0 0
CUI: C4025591
Disease: Absent urinary urothione
Absent urinary urothione 		1 0 1 1.0E-01 0 0
CUI: C4225200
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 		1 0 1 1.0E-01 0 0
CUI: C4225415
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 		1 0 1 1.0E-01 0 0
CUI: C4280681
Disease: Gastrojejunal tube feeding in infancy
Gastrojejunal tube feeding in infancy 		1 0 1 1.0E-01 0 0
CUI: C4540135
Disease: PITUITARY ADENOMA 3, MULTIPLE TYPES
PITUITARY ADENOMA 3, MULTIPLE TYPES 		1 0 1 1.0E-01 0 0
CUI: C4540536
Disease: PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC
PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC 		1 0 1 1.0E-01 0 0
CUI: C4748032
Disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES 		1 0 1 1.0E-01 0 0
CUI: C4755299
Disease: MT-ATP6-related mitochondrial spastic paraplegia
MT-ATP6-related mitochondrial spastic paraplegia 		1 0 1 1.0E-01 0 0
CUI: C0271197
Disease: Scotoma, Paracentral
Scotoma, Paracentral 		2 0 1 9.1E-02 0 0