Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs372949028
rs372949028
TANGO2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs372949028
rs372949028
TANGO2
CUI: C3807306
Disease: Acute rhabdomyolysis
Acute rhabdomyolysis 		A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs372949028
rs372949028
TANGO2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs372949028
rs372949028
TANGO2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs372949028
rs372949028
TANGO2
CUI: C4025572
Disease: Episodic flaccid weakness
Episodic flaccid weakness 		A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs372949028
rs372949028
TANGO2
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs372949028
rs372949028
TANGO2
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs372949028
rs372949028
TANGO2
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs372949028
rs372949028
TANGO2
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs372949028
rs372949028
TANGO2
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs372949028
rs372949028
TANGO2
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs372949028
rs372949028
TANGO2
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs372949028
rs372949028
TANGO2
CUI: C4225171
Disease: METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION 		A 0.700 CausalMutation CLINVAR