Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 593
Gene Symbol: BCKDHA
BCKDHA
0.100 Biomarker phenotype HPO
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
0.100 Biomarker phenotype HPO
Entrez Id: 4700
Gene Symbol: NDUFA6
NDUFA6
0.100 Biomarker phenotype HPO
Entrez Id: 29078
Gene Symbol: NDUFAF4
NDUFAF4
0.100 Biomarker phenotype HPO
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
0.100 Biomarker phenotype HPO
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 54820
Gene Symbol: NDE1
NDE1
0.100 Biomarker phenotype HPO
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3
0.100 Biomarker phenotype HPO
Entrez Id: 594
Gene Symbol: BCKDHB
BCKDHB
0.100 Biomarker phenotype HPO
Entrez Id: 2710
Gene Symbol: GK
GK
0.100 Biomarker phenotype HPO
Entrez Id: 388962
Gene Symbol: BOLA3
BOLA3
0.100 Biomarker phenotype HPO
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
0.100 Biomarker phenotype HPO
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.100 Biomarker phenotype HPO
Entrez Id: 148738
Gene Symbol: HJV
HJV
0.100 Biomarker phenotype HPO
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
0.100 Biomarker phenotype HPO
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 Biomarker phenotype HPO
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
0.100 Biomarker phenotype HPO
Entrez Id: 8260
Gene Symbol: NAA10
NAA10
0.100 Biomarker phenotype HPO
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
0.100 Biomarker phenotype HPO
Entrez Id: 54539
Gene Symbol: NDUFB11
NDUFB11
0.100 Biomarker phenotype HPO
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4
0.100 Biomarker phenotype HPO
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
0.100 Biomarker phenotype HPO
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 291
Gene Symbol: SLC25A4
SLC25A4
0.100 Biomarker phenotype HPO
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 Biomarker phenotype HPO