Source: HPO

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 Biomarker HPO

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: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 Biomarker HPO

Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis
1.000 Biomarker HPO

Entrez Id: 175
Gene Symbol: AGA
AGA
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria
1.000 Biomarker HPO

Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 Biomarker HPO

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 Biomarker HPO

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy
1.000 Biomarker HPO

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 Biomarker HPO

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 Biomarker HPO

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 Biomarker HPO

Entrez Id: 551
Gene Symbol: AVP
AVP
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus
1.000 Biomarker HPO

Entrez Id: 4541
Gene Symbol: ND6
ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
1.000 Biomarker HPO