Source: INFERRED

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 CausalMutation CLINVAR

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: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation CLINVAR

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 GeneticVariation CLINVAR

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

Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency
1.000 Biomarker HPO

Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease: Focal Dermal Hypoplasia
Focal Dermal Hypoplasia
1.000 GeneticVariation CLINVAR

Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
CUI: C0020725
Disease: Type II Mucolipidosis
Type II Mucolipidosis
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: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 Biomarker HPO

Entrez Id: 4010
Gene Symbol: LMX1B
LMX1B
CUI: C0027341
Disease: Nail-Patella Syndrome
Nail-Patella Syndrome
1.000 GeneticVariation CLINVAR

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: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 CausalMutation CLINVAR

Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
1.000 GeneticVariation CLINVAR

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
1.000 GeneticVariation CLINVAR

Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 Biomarker HPO

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation CLINVAR

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation CLINVAR

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

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

Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1
1.000 Biomarker HPO

Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII
1.000 GeneticVariation CLINVAR