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: C0270804
Disease: Spastic Diplegia Cerebral Palsy
Spastic Diplegia Cerebral Palsy 		1 0 1 0.33 0 0
CUI: C1300202
Disease: Diaphyseal medullary stenosis with bone malignancy
Diaphyseal medullary stenosis with bone malignancy 		1 0 1 0.33 0 0
CUI: C1850407
Disease: Navajo Familial Neurogenic Arthropathy
Navajo Familial Neurogenic Arthropathy 		1 0 1 0.33 0 0
CUI: C3150972
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY, TYPE ID 		1 3 1 0.33 1 0.33
CUI: C4025809
Disease: Penetrating foot ulcers
Penetrating foot ulcers 		1 1 1 0.33 1 1.00
CUI: C1833222
Disease: Autoamputation
Autoamputation 		2 0 1 0.25 0 0
CUI: C1833739
Disease: Diaphyseal cortical sclerosis
Diaphyseal cortical sclerosis 		2 0 1 0.25 0 0
CUI: C1849081
Disease: Metaphyseal striations
Metaphyseal striations 		2 0 1 0.25 0 0
CUI: C1862177
Disease: Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Diaphyseal medullary stenosis with malignant fibrous histiocytoma 		2 0 1 0.25 0 0
CUI: C1970009
Disease: SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE 		2 0 1 0.25 0 0
CUI: C4024920
Disease: Decreased distal sensory nerve action potential
Decreased distal sensory nerve action potential 		2 0 1 0.25 0 0
CUI: C1855845
Disease: Patchy osteosclerosis
Patchy osteosclerosis 		3 0 1 0.20 0 0
CUI: C2931254
Disease: Alport syndrome, recessive type
Alport syndrome, recessive type 		3 0 1 0.20 0 0
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		3 0 1 0.20 0 0
CUI: C4022179
Disease: Stenosis of the medullary cavity of the long bones
Stenosis of the medullary cavity of the long bones 		3 0 1 0.20 0 0
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		4 0 1 0.17 0 0
CUI: C1850413
Disease: Reye syndrome-like episodes
Reye syndrome-like episodes 		4 0 1 0.17 0 0
CUI: C1861385
Disease: SYMPHALANGISM, PROXIMAL
SYMPHALANGISM, PROXIMAL 		4 0 1 0.17 0 0
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency 		4 0 1 0.17 0 0
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		4 0 1 0.17 0 0
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		5 0 1 0.14 0 0
CUI: C1456276
Disease: Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome)
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome) 		5 0 1 0.14 0 0
CUI: C4021583
Disease: Impaired distal tactile sensation
Impaired distal tactile sensation 		5 0 1 0.14 0 0
CUI: C0009197
Disease: Cochlear Diseases
Cochlear Diseases 		6 0 1 0.12 0 0
CUI: C0020453
Disease: Hyperesthesia
Hyperesthesia 		6 0 1 0.12 0 0