Source: HPO

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 Biomarker HPO

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 Biomarker HPO

Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 Biomarker HPO

Entrez Id: 4609
Gene Symbol: MYC
MYC
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
1.000 Biomarker HPO

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

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

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

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
1.000 Biomarker HPO

Entrez Id: 5506
Gene Symbol: PPP1R3A
PPP1R3A
Diabetes Mellitus, Non-Insulin-Dependent
1.000 Biomarker HPO

Entrez Id: 5078
Gene Symbol: PAX4
PAX4
Diabetes Mellitus, Non-Insulin-Dependent
1.000 Biomarker HPO

Entrez Id: 2131
Gene Symbol: EXT1
EXT1
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses
1.000 Biomarker HPO

Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 Biomarker HPO

Entrez Id: 2322
Gene Symbol: FLT3
FLT3
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 Biomarker HPO

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0024899
Disease: Mastocytosis
Mastocytosis
1.000 Biomarker HPO

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma
1.000 Biomarker HPO

Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C0028754
Disease: Obesity
Obesity
1.000 Biomarker HPO

Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity
1.000 Biomarker HPO

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
1.000 Biomarker HPO

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 Biomarker HPO

Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
1.000 Biomarker HPO

Entrez Id: 3848
Gene Symbol: KRT1
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
1.000 Biomarker HPO

Entrez Id: 7051
Gene Symbol: TGM1
TGM1
Congenital Nonbullous Ichthyosiform Erythroderma
1.000 Biomarker HPO

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0080024
Disease: Piebaldism
Piebaldism
1.000 Biomarker HPO

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 Biomarker HPO

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma
1.000 Biomarker HPO