Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CTD_human

Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CTD_human

Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 Biomarker CTD_human

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		1.000 Biomarker CTD_human

Entrez Id: 5506
Gene Symbol: PPP1R3A
PPP1R3A
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		1.000 Biomarker CTD_human

Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 5506
Gene Symbol: PPP1R3A
PPP1R3A
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 ChromosomalRearrangement ORPHANET

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		1.000 GermlineCausalMutation ORPHANET

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial 		1.000 Biomarker CTD_human