rs28937900, FKRP

N. diseases: 37
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MUSCULAR DYSTROPHY, CONGENITAL, 1C
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
0.710 CausalMutation CLINVAR
Myopia
CUI: C0027092
Disease: Myopia
0.700 CausalMutation CLINVAR
Tinnitus
CUI: C0040264
Disease: Tinnitus
0.700 CausalMutation CLINVAR
Winged scapula
CUI: C0240953
Disease: Winged scapula
0.700 CausalMutation CLINVAR
Difficulty walking up stairs
CUI: C0239067
Disease: Difficulty walking up stairs
0.700 CausalMutation CLINVAR
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
0.700 CausalMutation CLINVAR
Electrocardiogram abnormal
CUI: C0522055
Disease: Electrocardiogram abnormal
0.700 CausalMutation CLINVAR
Headache
CUI: C0018681
Disease: Headache
0.700 CausalMutation CLINVAR
Elevated aldolase level
CUI: C4022858
Disease: Elevated aldolase level
0.700 CausalMutation CLINVAR
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
0.700 CausalMutation CLINVAR
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
0.700 CausalMutation CLINVAR
Paresthesia
CUI: C0030554
Disease: Paresthesia
0.700 CausalMutation CLINVAR
Creatine phosphokinase serum increased
CUI: C0241005
Disease: Creatine phosphokinase serum increased
0.700 CausalMutation CLINVAR
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
0.700 CausalMutation CLINVAR
Hyperextensible skin of face
CUI: C4024883
Disease: Hyperextensible skin of face
0.700 CausalMutation CLINVAR
Palpitations
CUI: C0030252
Disease: Palpitations
0.700 CausalMutation CLINVAR
Chronic fatigue
CUI: C0518656
Disease: Chronic fatigue
0.700 CausalMutation CLINVAR
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
0.700 CausalMutation CLINVAR
Intolerant of heat
CUI: C0231274
Disease: Intolerant of heat
0.700 CausalMutation CLINVAR
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
CUI: C3150413
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
0.700 CausalMutation CLINVAR
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
0.700 CausalMutation CLINVAR
Exercise-induced myoglobinuria
CUI: C1845155
Disease: Exercise-induced myoglobinuria
0.700 CausalMutation CLINVAR
Dyspnea
CUI: C0013404
Disease: Dyspnea
0.700 CausalMutation CLINVAR
Postural hypotension with compensatory tachycardia
CUI: C1850438
Disease: Postural hypotension with compensatory tachycardia
0.700 CausalMutation CLINVAR
Memory impairment
CUI: C0233794
Disease: Memory impairment
0.700 CausalMutation CLINVAR