Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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 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: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease: Focal Dermal Hypoplasia
Focal Dermal Hypoplasia 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease: Focal Dermal Hypoplasia
Focal Dermal Hypoplasia 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 5837
Gene Symbol: PYGM
PYGM
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 Biomarker GENOMICS_ENGLAND