AMPD2, adenosine monophosphate deaminase 2, 271

N. diseases: 60; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777392
rs587777392
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C4014354
Disease:
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.800 GeneticVariation UNIPROT AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. 23911318 2013
dbSNP: rs587777394
rs587777394
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C4014354
Disease:
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.800 GeneticVariation UNIPROT AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. 23911318 2013
dbSNP: rs587777395
rs587777395
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C4014354
Disease:
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.800 GeneticVariation UNIPROT AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. 23911318 2013
dbSNP: rs587777392
rs587777392
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C4014354
Disease:
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		C 0.800 CausalMutation CLINVAR
dbSNP: rs587777394
rs587777394
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C4014354
Disease:
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587777395
rs587777395
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C4014354
Disease:
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1553230375
rs1553230375
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C4014354
Disease:
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		G 0.700 CausalMutation CLINVAR
dbSNP: rs192669225
rs192669225
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0557874
Disease:
Global developmental delay 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs192669225
rs192669225
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0014544
Disease:
Epilepsy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs192669225
rs192669225
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0266449
Disease:
Congenital anomaly of brain 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs587777391
rs587777391
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C4014354
Disease:
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587777393
rs587777393
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C4014354
Disease:
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		A 0.700 CausalMutation CLINVAR
dbSNP: rs875989844
rs875989844
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C4014354
Disease:
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		G 0.700 CausalMutation CLINVAR
dbSNP: rs567798234
rs567798234
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0151744
Disease:
Myocardial Ischemia 		0.010 GeneticVariation BEFREE Several studies identified that polymorphism of AMP deaminase 1 gene (AMPD1), in particular the common C34T variant of this gene was found to benefit patients with heart failure and ischemic heart disease. 24431031 2014
dbSNP: rs567798234
rs567798234
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0018802
Disease:
Congestive heart failure 		0.010 GeneticVariation BEFREE Several studies identified that polymorphism of AMP deaminase 1 gene (AMPD1), in particular the common C34T variant of this gene was found to benefit patients with heart failure and ischemic heart disease. 24431031 2014
dbSNP: rs567798234
rs567798234
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0018801
Disease:
Heart failure 		0.010 GeneticVariation BEFREE Several studies identified that polymorphism of AMP deaminase 1 gene (AMPD1), in particular the common C34T variant of this gene was found to benefit patients with heart failure and ischemic heart disease. 24431031 2014
dbSNP: rs567798234
rs567798234
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C4086945
Disease:
Ventilatory Threshold 		0.010 GeneticVariation BEFREE The purpose of this study was to assess if there exists an association between C34T muscle adenosine monophosphate deaminase ( AMPD1) genotypes (i.e., normal homyzygotes [CC] vs. heterozygotes [ CT]) and directly measured indices of exercise capacity (peak oxygen uptake [VO(2peak)], ventilatory threshold [VT], gross mechanical efficiency [GE], etc.) in 44 Caucasian McArdle patients (23 males, 21 females). 17687759 2008
dbSNP: rs567798234
rs567798234
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0017924
Disease:
Glycogen Storage Disease Type V 		0.010 GeneticVariation BEFREE In summary, heterozigosity for the C34T allele of the AMPD gene is associated with reduced submaximal aerobic capacity in female patients with McArdle disease and might partly account, in this gender, for the variability that exists in the phenotypic manifestation of the disease. 17687759 2008
dbSNP: rs867317000
rs867317000
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0026848
Disease:
Myopathy 		0.010 GeneticVariation BEFREE First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient. 11102975 2000