Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		0.100 GeneticVariation phenotype CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
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: 9927
Gene Symbol: MFN2
MFN2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7486
Gene Symbol: WRN
WRN 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation phenotype CLINVAR