Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
0.100 CausalMutation phenotype CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907 2014
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
0.100 CausalMutation phenotype CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147 2011
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
0.100 Biomarker phenotype HPO
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
0.100 Biomarker phenotype HPO
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
0.100 Biomarker phenotype HPO
Entrez Id: 11232
Gene Symbol: POLG2
POLG2
0.100 Biomarker phenotype HPO
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41
0.100 Biomarker phenotype HPO
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
0.100 Biomarker phenotype HPO
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1
0.100 Biomarker phenotype HPO
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
0.100 Biomarker phenotype HPO
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.100 Biomarker phenotype HPO
Entrez Id: 5224
Gene Symbol: PGAM2
PGAM2
0.100 Biomarker phenotype HPO
Entrez Id: 55750
Gene Symbol: AGK
AGK
0.100 Biomarker phenotype HPO
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
0.100 Biomarker phenotype HPO
Entrez Id: 10056
Gene Symbol: FARSB
FARSB
0.100 Biomarker phenotype HPO
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.100 Biomarker phenotype HPO
Entrez Id: 1340
Gene Symbol: COX6B1
COX6B1
0.100 Biomarker phenotype HPO
Entrez Id: 22868
Gene Symbol: FASTKD2
FASTKD2
0.100 Biomarker phenotype HPO
Entrez Id: 246243
Gene Symbol: RNASEH1
RNASEH1
0.100 Biomarker phenotype HPO
Entrez Id: 100131801
Gene Symbol: PET100
PET100
0.100 Biomarker phenotype HPO
Entrez Id: 80324
Gene Symbol: PUS1
PUS1
0.100 Biomarker phenotype HPO
Entrez Id: 4563
Gene Symbol: TRNG
TRNG
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4570
Gene Symbol: TRNN
TRNN
0.100 Biomarker phenotype HPO
Entrez Id: 81034
Gene Symbol: SLC25A32
SLC25A32
0.100 Biomarker phenotype HPO
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10
0.100 Biomarker phenotype HPO