AMPD2, adenosine monophosphate deaminase 2, 271

N. diseases: 60; N. variants: 10
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 ×
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