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: C1835896
Disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder) 		1 23 1 1.00 22 0.58
CUI: C1848735
Disease: Developmental delay, mild
Developmental delay, mild 		1 1 1 1.00 1 2.7E-02
CUI: C1864929
Disease: Cerebellar atrophy, progressive
Cerebellar atrophy, progressive 		1 1 1 1.00 1 2.7E-02
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 		1 19 1 1.00 19 0.51
CUI: C0085649
Disease: Peripheral edema
Peripheral edema 		3 0 1 0.33 0 0
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		5 28 1 0.20 1 1.6E-02
CUI: C0151934
Disease: Hypogeusia
Hypogeusia 		6 0 1 0.17 0 0
CUI: C4025744
Disease: Foot acroosteolysis
Foot acroosteolysis 		6 0 1 0.17 0 0
CUI: C4025884
Disease: Abnormality of upper lip
Abnormality of upper lip 		6 0 1 0.17 0 0
CUI: C1835265
Disease: Lymphedema, microcephaly and chorioretinopathy syndrome
Lymphedema, microcephaly and chorioretinopathy syndrome 		7 0 1 0.14 0 0
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		7 6 1 0.14 3 7.5E-02
CUI: C0020072
Disease: Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Sensory Autonomic Neuropathy, Type 2 		8 9 1 0.12 1 2.2E-02
CUI: C1837602
Disease: Painless fractures due to injury
Painless fractures due to injury 		8 0 1 0.12 0 0
CUI: C1852289
Disease: Autoamputation of digits
Autoamputation of digits 		8 0 1 0.12 0 0
CUI: C4732740
Disease: Acral ulceration
Acral ulceration 		8 0 1 0.12 0 0
CUI: C4025676
Disease: Abnormality of the knee
Abnormality of the knee 		10 0 1 1.0E-01 0 0
CUI: C0030578
Disease: Paronychia Inflammation
Paronychia Inflammation 		11 0 1 9.1E-02 0 0
CUI: C0231698
Disease: Gait, Scissors
Gait, Scissors 		12 0 1 8.3E-02 0 0
CUI: C0268119
Disease: Combined molybdoflavoprotein enzyme deficiency
Combined molybdoflavoprotein enzyme deficiency 		13 0 1 7.7E-02 0 0
CUI: C4024610
Disease: Leg muscle stiffness
Leg muscle stiffness 		13 0 1 7.7E-02 0 0
CUI: C0151572
Disease: Reflex, Corneal, Decreased
Reflex, Corneal, Decreased 		14 0 1 7.1E-02 0 0
CUI: C1849148
Disease: Decreased sensory nerve conduction velocity
Decreased sensory nerve conduction velocity 		15 0 1 6.7E-02 0 0
CUI: C0393556
Disease: Complicated hereditary spastic paraplegia
Complicated hereditary spastic paraplegia 		16 0 1 6.2E-02 0 0
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		16 0 1 6.2E-02 0 0
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		16 0 1 6.2E-02 0 0