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: C3888209
Disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE 		3 0 2 0.50 0 0
CUI: C0037932
Disease: Curvature of spine
Curvature of spine 		1 0 1 0.33 0 0
CUI: C0221727
Disease: Pain in esophagus (finding)
Pain in esophagus (finding) 		1 0 1 0.33 0 0
CUI: C1846046
Disease: SPASTIC PARAPLEGIA 16, X-LINKED (disorder)
SPASTIC PARAPLEGIA 16, X-LINKED (disorder) 		1 0 1 0.33 0 0
CUI: C1857519
Disease: Malformation of the hepatic ductal plate
Malformation of the hepatic ductal plate 		1 0 1 0.33 0 0
CUI: C3711371
Disease: Spastic Paraplegia Type 4
Spastic Paraplegia Type 4 		7 0 2 0.25 0 0
CUI: C4524082
Disease: Segawa syndrome
Segawa syndrome 		2 0 1 0.25 0 0
CUI: C0013608
Disease: Edema, Cardiac
Edema, Cardiac 		3 0 1 0.20 0 0
CUI: C0026858
Disease: Musculoskeletal Pain
Musculoskeletal Pain 		3 0 1 0.20 0 0
CUI: C0242684
Disease: Hypodynamia
Hypodynamia 		3 0 1 0.20 0 0
CUI: C0751701
Disease: Hypokinesia, Antiorthostatic
Hypokinesia, Antiorthostatic 		3 0 1 0.20 0 0
CUI: C4022403
Disease: Abnormality of the substantia nigra
Abnormality of the substantia nigra 		3 0 1 0.20 0 0
CUI: C4024174
Disease: Broad distal phalanges of all fingers
Broad distal phalanges of all fingers 		3 0 1 0.20 0 0
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		10 0 2 0.18 0 0
CUI: C0268467
Disease: Hyperphenylalaninemia, BH4-Deficient, B
Hyperphenylalaninemia, BH4-Deficient, B 		4 0 1 0.17 0 0
CUI: C1263855
Disease: Lumbar radiculopathy
Lumbar radiculopathy 		4 0 1 0.17 0 0
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		4 0 1 0.17 0 0
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		4 0 1 0.17 0 0
CUI: C4025696
Disease: Paresis of extensor muscles of the big toe
Paresis of extensor muscles of the big toe 		4 0 1 0.17 0 0
CUI: C0231519
Disease: Gegenhalten
Gegenhalten 		5 0 1 0.14 0 0
CUI: C0233608
Disease: Catatonic Rigidity
Catatonic Rigidity 		5 0 1 0.14 0 0
CUI: C0239325
Disease: Extensor Rigidity
Extensor Rigidity 		5 0 1 0.14 0 0
CUI: C0277821
Disease: Extrapyramidal Rigidity
Extrapyramidal Rigidity 		5 0 1 0.14 0 0
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 0 1 0.14 0 0
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		5 0 1 0.14 0 0