AGTPBP1, ATP/GTP binding protein 1, 23287

N. diseases: 3; N. variants: 10
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748934
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY 		0.610 GeneticVariation disease UNIPROT Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. 30420557 2018
CUI: C4748934
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY 		0.610 Biomarker disease GENOMICS_ENGLAND Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. 30420557 2018
CUI: C4748934
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY 		0.610 Biomarker disease GENOMICS_ENGLAND Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. 30420557 2018