Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.100 GeneticVariation phenotype CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961 2014
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
0.100 Biomarker phenotype HPO
Entrez Id: 23742
Gene Symbol: NPAP1
NPAP1
0.100 Biomarker phenotype HPO
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.100 Biomarker phenotype HPO
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
0.100 Biomarker phenotype HPO
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.100 Biomarker phenotype HPO
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
0.100 Biomarker phenotype HPO
Entrez Id: 6611
Gene Symbol: SMS
SMS
0.100 Biomarker phenotype HPO
Entrez Id: 81887
Gene Symbol: LAS1L
LAS1L
0.100 Biomarker phenotype HPO
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
0.100 Biomarker phenotype HPO
Entrez Id: 10815
Gene Symbol: CPLX1
CPLX1
0.100 Biomarker phenotype HPO
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
0.100 Biomarker phenotype HPO
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
0.100 Biomarker phenotype HPO
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
0.100 Biomarker phenotype HPO
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 207
Gene Symbol: AKT1
AKT1
0.100 Biomarker phenotype HPO
Entrez Id: 7681
Gene Symbol: MKRN3
MKRN3
0.100 Biomarker phenotype HPO
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1
0.100 Biomarker phenotype HPO
Entrez Id: 529
Gene Symbol: ATP6V1E1
ATP6V1E1
0.100 Biomarker phenotype HPO
Entrez Id: 1890
Gene Symbol: TYMP
TYMP
0.100 Biomarker phenotype HPO
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
0.100 Biomarker phenotype HPO
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE
0.100 Biomarker phenotype HPO