VPS54, VPS54 subunit of GARP complex, 51542

N. diseases: 14; N. variants: 2
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.200 Biomarker disease MGD Abnormal astrocyte differentiation and defective cellular interactions in wobbler mouse spinal cord. 8006678 1994
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.200 Biomarker disease MGD Transforming growth factor alpha (TGF alpha) expression in degenerating motoneurons of the murine mutant wobbler: a neuronal signal for astrogliosis? 8027772 1994
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.200 Biomarker disease MGD Retardation of fast axonal transport in wobbler mice. 8390608 1993
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.200 Biomarker disease MGD Thyrotropin-releasing hormone (TRH) neurons sprout in cervical spinal cord of Wobbler mouse. 8281455 1993
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.200 Biomarker disease MGD Alteration in the levels of thyrotropin releasing hormone, substance P and enkephalins in the spinal cord, brainstem, hypothalamus and midbrain of the Wobbler mouse at different stages of the motoneuron disease. 1383870 1992
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.200 Biomarker disease MGD Defect of sperm assembly in a neurological mutant of the mouse, wobbler (WR). 1955109 1991
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.200 Biomarker disease MGD Astrocyte overgrowth in the brain stem and spinal cord of mice affected by spinal atrophy, wobbler. 3142758 1988
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.200 Biomarker disease MGD Impaired slow axonal transport in wobbler mouse motor neuron disease. 3947038 1986
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.200 Biomarker disease MGD Substance P neurons sprout in the cervical spinal cord of the wobbler mouse: a model for motoneuron disease. 2432278 1986
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.200 Biomarker disease MGD Animal model of human disease: Werdnig-Hoffmann disease (infantile spinal muscular atrophy). 7416238 1980
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.200 Biomarker disease MGD Reduced protein synthesis in spinal anterior horn neurons in wobbler mouse mutant. 7349996 1980
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.200 Biomarker disease MGD Decreased spinal cord cGMP in murine (wobbler) spontaneous lower motor neuron degeneration. 210748 1978
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.200 Biomarker disease MGD The fine structure of the cervical spinal cord, ventral root and brachial nerves in the wobbler (wr) mouse. 1117319 1975
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.200 Biomarker disease MGD Abnormalities of peripheral nerves in murine muscular dystrophy. 4120487 1973
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.200 Biomarker disease MGD An hereditary motor neurone disease with progressive denervation of muscle in the mouse: the mutant 'wobbler'. 5709840 1968