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: 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 GeneticVariation disease BEFREE This report is the second in the literature that delineates the pathogenic effects of biallelic AGTPBP1 variants presenting the recently described CONDCA disease. 31102495 2019
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
CUI: C4748934
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY 		0.610 CausalMutation disease CLINVAR
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 Biomarker disease MGD
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1 		0.200 Biomarker disease MGD
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 GeneticVariation disease BEFREE Likewise, a novel phenotype, childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) has been described recently in individuals with lower motor neuron disorder and cerebellar atrophy due to biallelic loss-of-function variants in AGTPBP1 that encodes cytosolic carboxypeptidase 1 (CCP1). 31102495 2019
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 CausalMutation disease CLINVAR
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 GeneticVariation disease BEFREE Monogenic biallelic damaging variants in the Agtpbp1 gene cause infantile-onset neurodegeneration and cerebellar atrophy, linking loss of functional CCP1 with human neurodegeneration. 30905767 2019
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 CausalMutation disease CLINVAR
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		0.100 CausalMutation disease CLINVAR
CUI: C0271683
Disease: Polyneuropathy, Motor
Polyneuropathy, Motor 		0.100 CausalMutation disease CLINVAR
CUI: C0271683
Disease: Polyneuropathy, Motor
Polyneuropathy, Motor 		0.100 GeneticVariation disease CLINVAR
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		0.100 CausalMutation disease CLINVAR
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.100 CausalMutation disease CLINVAR
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO