AGTPBP1, ATP/GTP binding protein 1, 23287

N. diseases: 63; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 CausalMutation group CLINVAR
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 Biomarker group BEFREE A dissociation between place and cued learning in the Morris water maze has been observed in several models, including cerebellar mutant mice (Rora(sg), Nna1(pcd-1J), nervous), rats with lesions of either the lateral cerebellar cortex or the dentate nucleus, and rats with selective Purkinje cell loss caused by intracerebroventricular injections of OX-7-saporin, confirming the hypothesis that cerebellar damage may cause a cognitive deficit independently of fine motor control. 14964689 2003
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 Biomarker group BEFREE The ATP/GTP-Binding Protein 1 (AGTPBP1) gene (OMIM *606830) catalyzes deglutamylation of polyglutamylated proteins, and its deficiency manifests by cerebellar ataxia and peripheral neuropathy in mice and lower motor neuron-like disease in sheep. 30976113 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 Biomarker group BEFREE Ablation of CCP1 interferes with mitochondrial transport and causes human neurodegenerative disease, which may be amenable to pharmacological therapies. 30620913 2019
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.010 Biomarker group BEFREE The ATP/GTP-Binding Protein 1 (AGTPBP1) gene (OMIM *606830) catalyzes deglutamylation of polyglutamylated proteins, and its deficiency manifests by cerebellar ataxia and peripheral neuropathy in mice and lower motor neuron-like disease in sheep. 30976113 2019
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.300 Biomarker phenotype CTD_human The Purkinje cell degeneration (pcd) phenotype is characterized by adult onset neurodegeneration resulting from mutations in Nna1, a gene encoding an intracellular protein with a putative metallocarboxypeptidase domain. 16952463 2006
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.100 CausalMutation phenotype CLINVAR
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		0.100 CausalMutation phenotype CLINVAR
CUI: C0270790
Disease: Quadriparesis
Quadriparesis 		0.100 Biomarker phenotype HPO
CUI: C0423082
Disease: Hypometric saccades
Hypometric saccades 		0.100 CausalMutation phenotype CLINVAR
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		0.100 CausalMutation phenotype CLINVAR
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0575802
Disease: Small hand
Small hand 		0.100 CausalMutation phenotype CLINVAR
CUI: C1321329
Disease: Slowed saccades
Slowed saccades 		0.100 Biomarker phenotype HPO
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		0.100 Biomarker phenotype HPO
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		0.100 CausalMutation phenotype CLINVAR
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 CausalMutation phenotype CLINVAR
CUI: C1854301
Disease: Motor delay
Motor delay 		0.100 Biomarker phenotype HPO
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs 		0.100 CausalMutation phenotype CLINVAR
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 CausalMutation phenotype CLINVAR
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		0.100 CausalMutation phenotype CLINVAR
CUI: C1865304
Disease: Overfolding of the superior helices
Overfolding of the superior helices 		0.100 CausalMutation phenotype CLINVAR
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO