rs28937900, FKRP

N. diseases: 37
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Difficulty standing
CUI: C0241237
Disease: Difficulty standing
0.700 CausalMutation CLINVAR
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
0.700 CausalMutation CLINVAR
Vertigo
CUI: C0042571
Disease: Vertigo
0.700 CausalMutation CLINVAR
Pain
CUI: C0030193
Disease: Pain
0.700 CausalMutation CLINVAR
Rhabdomyolysis
CUI: C0035410
Disease: Rhabdomyolysis
0.700 CausalMutation CLINVAR
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
0.730 GeneticVariation BEFREE A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans. 26574668 2015
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
0.730 CausalMutation CLINVAR A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans. 26574668 2015
Walker-Warburg congenital muscular dystrophy
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
0.710 CausalMutation CLINVAR A population-based study of autosomal-recessive disease-causing mutations in a founder population. 22981120 2012
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
0.730 CausalMutation CLINVAR A second LGMD locus, LGMD2I, was identified in chromosome region 19q13.3, and the causative mutation was identified as c.826C>A (L276I), a missense mutation in the FKRP gene. 15580560 2005
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
0.730 CausalMutation CLINVAR An irish case of limb-girdle muscular dystrophy 2I with structural eye involvement. 26833294 2016
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
0.830 GeneticVariation UNIPROT Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. 14647208 2003
Walker-Warburg congenital muscular dystrophy
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
0.710 CausalMutation CLINVAR Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. 14647208 2003
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
0.730 CausalMutation CLINVAR Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. 19835634 2009
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
0.830 CausalMutation CLINVAR Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study. 18639457 2008
Walker-Warburg congenital muscular dystrophy
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
0.710 CausalMutation CLINVAR Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study. 18639457 2008
Walker-Warburg congenital muscular dystrophy
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
0.710 CausalMutation CLINVAR Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance. 16786213 2006
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
0.730 CausalMutation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
0.730 CausalMutation CLINVAR Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I. 24447024 2014
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
0.730 CausalMutation CLINVAR Cortical heterotopia in LGMD2I. 22264518 2012
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
0.730 CausalMutation CLINVAR Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy. 25560911 2015
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
0.730 CausalMutation CLINVAR Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation. 15833432 2005
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
0.730 CausalMutation CLINVAR FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients. 15060126 2004
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
0.730 CausalMutation CLINVAR Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients. 19820980 2010
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
0.730 CausalMutation CLINVAR Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo. 17554798 2007
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
0.830 CausalMutation CLINVAR Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. 15574464 2005