AMPD2, adenosine monophosphate deaminase 2, 271

N. diseases: 60; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.730 GeneticVariation disease BEFREE Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. 31833174 2020
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.730 GeneticVariation disease BEFREE 1.NAME OF DISEASE (SYNONYMS): Pontocerebellar hypoplasia type 9 (PCH9) and spastic paraplegia-63 (SPG63).2. 30089829 2019
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.730 Biomarker disease BEFREE Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. 29463858 2018
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.730 Biomarker disease GENOMICS_ENGLAND Whole exome sequencing in patients with white matter abnormalities. 27159321 2016
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.730 Biomarker disease GENOMICS_ENGLAND Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.730 Biomarker disease GENOMICS_ENGLAND Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.730 GermlineCausalMutation disease ORPHANET AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. 23911318 2013
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.730 GeneticVariation disease UNIPROT AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. 23911318 2013
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.730 Biomarker disease GENOMICS_ENGLAND AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. 23911318 2013
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.730 CausalMutation disease CLINVAR
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.730 Biomarker disease CTD_human
CUI: C3810295
Disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE 		0.600 Biomarker disease GENOMICS_ENGLAND Whole exome sequencing in patients with white matter abnormalities. 27159321 2016
CUI: C3810295
Disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE 		0.600 GermlineCausalMutation disease ORPHANET Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
CUI: C3810295
Disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE 		0.600 Biomarker disease CTD_human
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		0.320 GeneticVariation disease BEFREE We identified homozygous or compound heterozygous AMPD2 variants in eight PCH-affected individuals from six families. 29463858 2018
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		0.320 Biomarker disease BEFREE These data suggest AMPD2-related PCH as a potentially treatable early-onset neurodegenerative disease. 23911318 2013
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		0.320 Biomarker disease GENOMICS_ENGLAND These data suggest AMPD2-related PCH as a potentially treatable early-onset neurodegenerative disease. 23911318 2013
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.120 GeneticVariation disease BEFREE 1.NAME OF DISEASE (SYNONYMS): Pontocerebellar hypoplasia type 9 (PCH9) and spastic paraplegia-63 (SPG63).2. 30089829 2019
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.120 Biomarker disease BEFREE PCH9 is caused by biallelic variants in AMPD2 encoding adenosine monophosphate deaminase 2; however, a homozygous AMPD2 frameshift variant has recently been reported in two family members with spastic paraplegia type 63 (SPG63). 29463858 2018
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.120 Biomarker disease HPO
CUI: C0009024
Disease: Clonus
Clonus 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation disease CLINVAR
CUI: C0024421
Disease: Macroglossia
Macroglossia 		0.100 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO