Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6748
Gene Symbol: SSR4
SSR4
0.100 Biomarker phenotype HPO
Entrez Id: 7343
Gene Symbol: UBTF
UBTF
0.100 Biomarker phenotype HPO
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
0.100 Biomarker phenotype HPO
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
0.100 Biomarker phenotype HPO
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.100 Biomarker phenotype HPO
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
0.100 CausalMutation phenotype CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
0.100 Biomarker phenotype HPO
Entrez Id: 5718
Gene Symbol: PSMD12
PSMD12
0.100 Biomarker phenotype HPO
Entrez Id: 54931
Gene Symbol: TRMT10C
TRMT10C
0.100 Biomarker phenotype HPO
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
0.100 Biomarker phenotype HPO
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 Biomarker phenotype HPO
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
0.100 Biomarker phenotype HPO
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1
0.100 Biomarker phenotype HPO
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
0.100 Biomarker phenotype HPO
Entrez Id: 5000
Gene Symbol: ORC4
ORC4
0.100 Biomarker phenotype HPO
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
0.100 GeneticVariation phenotype CLINVAR A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. 27182039 2016
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
0.100 Biomarker phenotype HPO
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
0.100 Biomarker phenotype HPO
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A
0.100 Biomarker phenotype HPO
Entrez Id: 3703
Gene Symbol: STT3A
STT3A
0.100 Biomarker phenotype HPO
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1
0.100 Biomarker phenotype HPO
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
0.100 Biomarker phenotype HPO
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
0.100 Biomarker phenotype HPO
Entrez Id: 56160
Gene Symbol: NSMCE3
NSMCE3
0.100 Biomarker phenotype HPO