Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
0.300 Biomarker phenotype GENOMICS_ENGLAND Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy. 21935284 2011
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
0.100 GeneticVariation phenotype CLINVAR First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy. 9452087 1998
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
0.100 Biomarker phenotype HPO
Entrez Id: 51601
Gene Symbol: LIPT1
LIPT1
0.100 Biomarker phenotype HPO
Entrez Id: 100131801
Gene Symbol: PET100
PET100
0.100 Biomarker phenotype HPO
Entrez Id: 4697
Gene Symbol: NDUFA4
NDUFA4
0.100 Biomarker phenotype HPO
Entrez Id: 1355
Gene Symbol: COX15
COX15
0.100 Biomarker phenotype HPO
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
0.100 Biomarker phenotype HPO
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1
0.100 Biomarker phenotype HPO
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
0.100 Biomarker phenotype HPO
Entrez Id: 55967
Gene Symbol: NDUFA12
NDUFA12
0.100 Biomarker phenotype HPO
Entrez Id: 9197
Gene Symbol: SLC33A1
SLC33A1
0.100 Biomarker phenotype HPO
Entrez Id: 51079
Gene Symbol: NDUFA13
NDUFA13
0.100 Biomarker phenotype HPO
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
0.100 Biomarker phenotype HPO
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2
0.100 Biomarker phenotype HPO
Entrez Id: 51663
Gene Symbol: ZFR
ZFR
0.100 Biomarker phenotype HPO
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
0.100 Biomarker phenotype HPO
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2
0.100 Biomarker phenotype HPO
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1
0.100 Biomarker phenotype HPO
Entrez Id: 4141
Gene Symbol: MARS1
MARS1
0.100 Biomarker phenotype HPO
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
0.100 Biomarker phenotype HPO
Entrez Id: 57531
Gene Symbol: HACE1
HACE1
0.100 Biomarker phenotype HPO
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
0.100 Biomarker phenotype HPO
Entrez Id: 126129
Gene Symbol: CPT1C
CPT1C
0.100 Biomarker phenotype HPO
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
0.100 Biomarker phenotype HPO