Disease: Hyperreflexia in upper limbs ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556424691
rs1556424691
Entrez Id: 4519;4541;4576
Gene Symbol: CYTB;ND6;TRNT
CYTB;ND6;TRNT
CUI: C1843175
Disease:
Hyperreflexia in upper limbs 		G 0.700 CausalMutation CLINVAR Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype. 30236074 2018
dbSNP: rs1556424691
rs1556424691
Entrez Id: 4519;4541;4576
Gene Symbol: CYTB;ND6;TRNT
CYTB;ND6;TRNT
CUI: C1843175
Disease:
Hyperreflexia in upper limbs 		G 0.700 CausalMutation CLINVAR CO2-sensitive tRNA modification associated with human mitochondrial disease. 29760464 2018
dbSNP: rs1556424691
rs1556424691
Entrez Id: 4519;4541;4576
Gene Symbol: CYTB;ND6;TRNT
CYTB;ND6;TRNT
CUI: C1843175
Disease:
Hyperreflexia in upper limbs 		G 0.700 CausalMutation CLINVAR New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. 22638997 2012
dbSNP: rs1556424691
rs1556424691
Entrez Id: 4519;4541;4576
Gene Symbol: CYTB;ND6;TRNT
CYTB;ND6;TRNT
CUI: C1843175
Disease:
Hyperreflexia in upper limbs 		G 0.700 CausalMutation CLINVAR Mitochondrial disorder associated with newborn cardiopulmonary arrest. 8511015 1993