Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.200 CausalMutation CLINVAR Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease. 29941560

2018

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.200 Biomarker HPO

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.180 Biomarker HPO

Entrez Id: 6622
Gene Symbol: SNCA
SNCA
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.170 Biomarker HPO

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.120 Biomarker HPO

Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.120 Biomarker HPO

Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.110 Biomarker HPO

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.110 Biomarker HPO

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.110 Biomarker HPO

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.110 Biomarker HPO

Entrez Id: 10345
Gene Symbol: TRDN
TRDN
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.100 Biomarker HPO

Entrez Id: 493856
Gene Symbol: CISD2
CISD2
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.100 Biomarker HPO

Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.100 Biomarker HPO

Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.100 CausalMutation CLINVAR

Entrez Id: 805
Gene Symbol: CALM2
CALM2
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.100 Biomarker HPO

Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.100 Biomarker HPO

Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.100 Biomarker HPO

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.100 Biomarker HPO

Entrez Id: 9992
Gene Symbol: KCNE2
KCNE2
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.100 Biomarker HPO

Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.100 Biomarker HPO

Entrez Id: 429
Gene Symbol: ASCL1
ASCL1
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.100 Biomarker HPO

Entrez Id: 22948
Gene Symbol: CCT5
CCT5
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.100 Biomarker HPO

Entrez Id: 113278
Gene Symbol: SLC52A3
SLC52A3
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.100 Biomarker HPO

Entrez Id: 6663
Gene Symbol: SOX10
SOX10
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.100 Biomarker HPO

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.100 CausalMutation CLINVAR