Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554340243
rs1554340243
Entrez Id: 55005
Gene Symbol: RMND1
RMND1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 27412952 2016
dbSNP: rs1554340243
rs1554340243
Entrez Id: 55005
Gene Symbol: RMND1
RMND1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Hearing impairment and renal failure associated with RMND1 mutations. 26395190 2016
dbSNP: rs1554340243
rs1554340243
Entrez Id: 55005
Gene Symbol: RMND1
RMND1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1? 26238252 2016
dbSNP: rs1554340243
rs1554340243
Entrez Id: 55005
Gene Symbol: RMND1
RMND1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement. 25604853 2015
dbSNP: rs1554340243
rs1554340243
Entrez Id: 55005
Gene Symbol: RMND1
RMND1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
dbSNP: rs1554340243
rs1554340243
Entrez Id: 55005
Gene Symbol: RMND1
RMND1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. 23022099 2012
dbSNP: rs1554340243
rs1554340243
Entrez Id: 55005
Gene Symbol: RMND1
RMND1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. 23022098 2012
dbSNP: rs1554340243
rs1554340243
Entrez Id: 55005
Gene Symbol: RMND1
RMND1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis. 18835491 2008