Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
0.100 CausalMutation phenotype CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
0.100 GeneticVariation phenotype CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
0.100 CausalMutation phenotype CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
0.100 Biomarker phenotype HPO
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
0.100 Biomarker phenotype HPO
Entrez Id: 5813
Gene Symbol: PURA
PURA
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
0.100 Biomarker phenotype HPO
Entrez Id: 84706
Gene Symbol: GPT2
GPT2
0.100 Biomarker phenotype HPO
Entrez Id: 91949
Gene Symbol: COG7
COG7
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4556
Gene Symbol: TRNE
TRNE
0.100 Biomarker phenotype HPO
Entrez Id: 91949
Gene Symbol: COG7
COG7
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
0.100 CausalMutation phenotype CLINVAR