Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 1130
Gene Symbol: LYST
LYST
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 6452
Gene Symbol: SH3BP2
SH3BP2
CUI: C0008029
Disease: Cherubism
Cherubism 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		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: 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 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