Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4055
Gene Symbol: LTBR
LTBR
0.010 AlteredExpression phenotype LHGDN Contribution of the lymphotoxin beta receptor to liver regeneration. 16002734 2005
Entrez Id: 1962
Gene Symbol: EHHADH
EHHADH
0.010 GeneticVariation phenotype LHGDN Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. 9185222 1997
Entrez Id: 2548
Gene Symbol: GAA
GAA
0.100 CausalMutation phenotype CLINVAR c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. 26160551 2015
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
0.100 CausalMutation phenotype CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624 2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
0.100 CausalMutation phenotype CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118 2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
0.100 CausalMutation phenotype CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944 2012
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
0.100 Biomarker phenotype HPO
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
0.100 Biomarker phenotype HPO
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.100 Biomarker phenotype HPO
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
0.100 Biomarker phenotype HPO
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
0.100 Biomarker phenotype HPO
Entrez Id: 34
Gene Symbol: ACADM
ACADM
0.100 Biomarker phenotype HPO
Entrez Id: 8676
Gene Symbol: STX11
STX11
0.100 Biomarker phenotype HPO
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 Biomarker phenotype HPO
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
0.100 Biomarker phenotype HPO
Entrez Id: 51204
Gene Symbol: TACO1
TACO1
0.100 Biomarker phenotype HPO
Entrez Id: 3854
Gene Symbol: KRT6B
KRT6B
0.100 Biomarker phenotype HPO
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
0.100 Biomarker phenotype HPO
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL
0.100 Biomarker phenotype HPO
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
0.100 Biomarker phenotype HPO
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
0.100 Biomarker phenotype HPO
Entrez Id: 930
Gene Symbol: CD19
CD19
0.100 Biomarker phenotype HPO
Entrez Id: 84168
Gene Symbol: ANTXR1
ANTXR1
0.100 Biomarker phenotype HPO
Entrez Id: 5286
Gene Symbol: PIK3C2A
PIK3C2A
0.100 Biomarker phenotype HPO
Entrez Id: 79796
Gene Symbol: ALG9
ALG9
0.100 Biomarker phenotype HPO