DBNL, drebrin like, 28988

N. diseases: 28; N. variants: 1
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77938727
rs77938727
Entrez Id: 5224;28988
Gene Symbol: PGAM2;DBNL
PGAM2;DBNL
CUI: C0268149
Disease:
Glycogen storage disease type X 		0.810 GeneticVariation BEFREE We found a new PGAM-M mutation in a Japanese family with partial PGAM deficiency: a G-to-A transition at nucleotide position 209, resulting in the substitution of a highly conserved glycine at codon 97 with aspartic acid (G97D). 10545043 1999
dbSNP: rs77938727
rs77938727
Entrez Id: 5224;28988
Gene Symbol: PGAM2;DBNL
PGAM2;DBNL
CUI: C0026821
Disease:
Muscle Cramp 		0.010 GeneticVariation BEFREE Two heterozygous family members for the G97D mutation presented with exercise intolerance and muscle cramps. 10545043 1999